phenylalanine has been researched along with BH4 Deficiency in 2706 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1425 (52.66) | 18.7374 |
| 1990's | 360 (13.30) | 18.2507 |
| 2000's | 373 (13.78) | 29.6817 |
| 2010's | 374 (13.82) | 24.3611 |
| 2020's | 174 (6.43) | 2.80 |
| Authors | Studies |
|---|---|
| Burgerhof, JGM; Feldmann, R; Huijbregts, SCJ; Jahja, R; Liemburg, GB; Och, U; Rutsch, F; van Spronsen, FJ; Weglage, J | 1 |
| Firman, S; O'Keeffe, M; Ramachandran, R; Whelan, K; Witard, OC | 1 |
| Gu, X; Hong, S; Liang, L; Xu, F; Zhan, X; Zheng, S; Zhu, T | 1 |
| Almeida, MF; Bandeira, A; Barbosa, CS; Carmona, C; Guimas, A; Kanufre, V; MacDonald, A; Martins, E; Pinto, A; Ribeiro, R; Rocha, JC; Rocha, S | 1 |
| Kenneson, A; Singh, RH | 1 |
| Dijkstra, AM; Heiner-Fokkema, MR; Hovens, IB; Huijbregts, SCJ; Kema, IP; Romani, C; van der Goot, E; van der Zee, EA; van Spronsen, FJ; van Vliet, D; van Vliet, N | 1 |
| Ahring, K; Calhau, C; Faria, A; Feillet, F; MacDonald, A; Moreira-Rosário, A; Pinto, A; Rocha, JC; Rodrigues, C; Teixeira, D; van Wegberg, AMJ | 1 |
| Abin-Fuentes, A; Adolfsen, KJ; Callihan, I; Castillo, MJ; Fitch, LE; Greisen, PJ; Isabella, VM; Konieczka, JH; Lawrence, AG; Mirabella, T; Momin, M; Monahan, CE; Renaud, L; Spoonamore, J; Weile, CJ; Weng, L | 1 |
| Abend, J; Aryal, M; Boyer, R; Gu, K; Gupta, S; Larimore, K; Lau, K; Olbertz, J; Zhou, H; Zoog, S | 1 |
| Karimi-Shahanjarini, A; Moeini, B; Tapak, L; Zamani, R | 1 |
| Biasucci, G; Burlina, A; Carbone, MT; Cazzorla, C; Leuzzi, V; Paci, S; Pochiero, F; Spada, M; Tummolo, A; Zuvadelli, J | 1 |
| Ascherl, RG; Baerwald, C; Beblo, S; Heller, C; Joerg-Streller, M; Joos, O; Jung, A; Lier, D; Luttat, S; Matzgen, S; Och, U; Rohde, C; Rosenbaum-Fabian, S; Schönherr, K; Thiele, AG; Winkler, T | 1 |
| Anarat-Cappillino, G; Bangari, DS; Berthelette, P; Cornell, CS; Gans, J; Geller, S; Hossain, M; Jackson, R; Kyostio-Moore, SRM; Manek, R; Ryan, S; Singh, K; Xu, EY; Yu, D; Zhang, YV | 1 |
| Amato, G; Arnold, GL; Bilder, DA; Dimmock, D; Grant, ML; Janzen, D; Jurecki, E; Longo, N; Merilainen, M; Nguyen-Driver, M; Waisbren, S | 1 |
| Albano, L; Concolino, D; Crisci, D; Esposito, G; Ferraro, S; Nastasi, A; Parenti, G; Ruoppolo, M; Scala, I; Sestito, S; Strisciuglio, P | 1 |
| Gralén, K; Hoxer, C; Okhuoya, P; Olofsson, S; Persson, U | 1 |
| Barta, AG; Becsei, D; Kiss, E; Reismann, P; Simonová, E; Sumánszki, C | 1 |
| Altman, G; Green, D; Hussain, K; Strauss, BJG; Wilcox, G | 1 |
| Dhillon, J; Hoffman, J; McWhorter, N | 1 |
| Bratkovic, D; Margvelashvili, L; Nisbet, J; Smith, N; Tchan, MC | 1 |
| de Blaauw, P; Heiner-Fokkema, MR; Kema, IP; van der Goot, E; van der Zee, EA; van Faassen, HJR; van Ginkel, WG; van Spronsen, FJ; van Vliet, D | 1 |
| Anjanappa, R; Arunachal, G; Bhat, M; Chandra, SR; Christopher, R; Dhar, D; Gowda, VK; Kamate, M; Mahale, R; Mathuranath, PS; Nagappa, M; Padmanabha, H; Pooja, M; Ray, S; Sreedharan, S | 1 |
| Ahring, KK; Brüel, A; Brøndum-Nielsen, K; Christensen, M; Dagnæs-Hansen, F; Jensen, E; Jensen, TG; Johannsen, M; Johansen, KS; Kjolby, M; Lund, AM; Madsen, JG; Møller, LB; Pedersen, M; Sørensen, LK | 1 |
| Cai, X; Chen, J; Hu, R; Li, Y; Meng, L; Yang, G; Yu, T; Zeng, Y | 1 |
| Appaiah, P; Martin, A; Sunil, L; Vasu, P | 1 |
| Bilgin, H; Erdol, S | 1 |
| Bik-Multanowska, K; Bik-Multanowski, M; Didycz, B | 1 |
| Daly, A; Evans, S; MacDonald, A; Pinto, A | 1 |
| Hara, S; Hara, Y; Horiguchi, M; Ichinose, H; Inoue, KI; Kondo, K; Miyajima, K; Miyakawa, T; Mori-Kojima, M; Sanechika, S; Sudo, Y; Sugimoto, M; Sumi-Ichinose, C; Suzuki, M; Takada, M; Takao, K; Takebayashi, H; Tanda, K; Xu, F; Yoshioka, N | 1 |
| Abgottspon, S; Christ, SE; Everts, R; Hochuli, M; Muri, R; Radojewski, P; Trepp, R | 1 |
| Bernatowicz, K; Giżewska, M; Krzywińska-Zdeb, E; Leśniak, A; Patalan, M; Romanowska, H; Walczak, M | 1 |
| Adam, S; Ellerton, C; Ford, S; Hill, M; MacDonald, A; Randles, G; Robertson, L; Woodall, A; Young, C | 1 |
| Firman, SJ; O'Keeffe, M; Ramachandran, R; Whelan, K; Witard, OC | 1 |
| de Araújo, RLB; de Sousa, RCS; Dias, LTS; Labanca, RA; Minighin, EC; Ramos, ALCC | 1 |
| Battelino, T; Bicek, A; Drole Torkar, A; Groselj, U; Krhin, B; Oblak, A; Perko, D; Remec, ZI; Repic Lampret, B; Zerjav Tansek, M | 1 |
| Boutros, S; Dudley, S; Harding, CO; Krenik, D; Raber, J; Rimann, N; Scherer, T; Thöny, B; Winn, SR | 1 |
| Besada, C; Dmello, A; Hakami, A; Little, T; Pantano, S; Pillai, G; Truong, N; Yetsko, K | 1 |
| Blair, HC; Dobrowolski, SF; Goetzman, E; Phua, YL; Vockley, J | 1 |
| Colaco, JC; Kang, JS; Kim, HJ; Kim, KS; Kim, WJ; Ramakrishna, S; Sarodaya, N; Tyagi, A | 1 |
| Ebrahimi, SA; Jafari-Sabet, M; Najafizadeh, P; Rahimi-Moghaddam, P; Sadegipour, A; Torab, M | 1 |
| Alves, JDS; Carvalho, ASES; de Oliveira Filho, JG; Egea, MB | 1 |
| Kim, J; Kim, KH; Kim, SK; Ko, JM; Lee, J; Lee, JY; Lee, S; Mook-Jung, I; Park, JC; Park, SH | 1 |
| Brito, RMM; Conde-Giménez, M; Díaz-de-Villegas, MD; Galano-Frutos, JJ; Galiana-Cameo, M; Gálvez, JA; Mahía, A; Salillas, S; Sancho, J; Velázquez-Campoy, A; Victor, BL | 1 |
| Ashmore, C; Daly, A; Dhadwar, P; Evans, S; Jackson, R; Lecocq, O; MacDonald, A; Pinto, A; Syed, A | 1 |
| Ahmad, R; Fatma, T; Perveen, G; Sami, N | 1 |
| Chegini, R; Hashemipour, M; Hovsepian, S; Rostampour, N; Zamaneh, F | 1 |
| Guo, Y; Jia, C; Li, X; Liu, S; Wang, M; Zhang, L; Zhao, D; Zhu, D | 1 |
| Abumansour, IS; AlJahdali, IA; Aljohani, F; Alosaimi, W; Alzahrani, A; Dandini, M; Elhawary, EN; Elhawary, NA; Gaboon, N; Kensara, OA; Madkhali, A; Melibary, EM | 1 |
| Çoker, M; Coşkun, T; Mungan, NÖ; Özel, HG; Sivri, HS | 1 |
| Dong, F; Huang, R; Jiang, Y; Qian, F; Sun, B; Xu, C; Yang, S; Zhai, Q; Zhong, W | 1 |
| Hong, SH; Kang, JS; Kim, HJ; Kim, KS; Kim, WJ; Ramakrishna, S; Sarodaya, N; Singh, V; Tyagi, A | 1 |
| Baerwald, CGO; Beblo, S; Burgard, P; Das, A; Dokoupil, K; Fleissner, S; Freisinger, P; Garbade, SF; Gleich, F; Grohmann-Held, K; Heddrich-Ellerbrok, M; Jung, A; Kölker, S; Korpel, V; Krämer, J; Lier, D; Maier, EM; Meyer, U; Mühlhausen, C; Mütze, U; Newger, M; Och, U; Plöckinger, U; Rosenbaum-Fabian, S; Rutsch, F; Santer, R; Schick, P; Schwarz, M; Spiekerkötter, U; Strittmatter, U; Thiele, AG; Vom Dahl, S; Ziagaki, A | 1 |
| Diaz-Trelles, R; Perez-Garcia, CG | 1 |
| Brocca, P; Cantù, L; Colombo, L; Del Favero, E; Di Cola, E; Fragneto, G; Grillo, I; Koutsioubas, A; Rondelli, V; Salmona, M | 1 |
| Baird, S; Clinton Frazee, C; Garg, U | 1 |
| Evers, RAF; Huijbregts, SCJ; Leuzzi, V; MacDonald, A; van Spronsen, FJ; van Wegberg, AMJ | 1 |
| Alvarez, JA; Cui, X; Ramakrishnan, U; Schoen, MS; Singh, RH; Ziegler, TR | 1 |
| Banderali, G; Cefalo, G; Giorgetti, F; Paci, S; Re Dionigi, A; Rovelli, V; Salvatici, E; Zuvadelli, J | 1 |
| Ashmore, C; Daly, A; Evans, S; Hickson, M; Jackson, R; MacDonald, A; Payne, A; Pinto, A; Rocha, JC | 1 |
| Chen, A; Li, H; Li, M; Liang, L; Qian, H; Yang, H; Zhu, H | 1 |
| Ahmadzadeh, M; Alaei, M; Eini-Zinab, H; Mohammadpour-Ahranjani, B; Namkhah, Z; Rastgoo, S; Sohrab, G | 1 |
| Ernst, SL; McWhorter, N; Ndugga-Kabuye, MK; Puurunen, M | 1 |
| Barker-Collo, SL; Murrell, K; Randell, NJS; Wilson, C | 1 |
| Burlina, AP; Caviglia, S; Cazzorla, C; Dicintio, A; Manti, F; Pilotto, A | 1 |
| Olson, A; Romani, C; Thomas, L | 1 |
| Barbosa-Gouveia, S; Cruces-Sande, A; Fernandez-Crespo, S; Hermida-Ameijeiras, A; Marques-Afonso, AT; Martinez-Olmos, MA; Vazquez-Agra, N | 1 |
| Araujo-Vilar, D; Costa-Lathan, C; Cruces-Sande, A; Hermida-Ameijeiras, A; Marques-Afonso, AT; Martinez-Olmos, MA; Vazquez-Agra, N | 1 |
| Ashmore, C; Cochrane, B; Daly, A; Evans, S; MacDonald, A; Pinto, A; Wildgoose, J; Yilmaz, O | 1 |
| Aitkenhead, H; Barski, R; Cantley, NW; Carling, RS; Collingwood, C; Goddard, P; Hamilton, G; Hogg, SL; Kemp, HJ; Moat, SJ | 1 |
| Grünert, SC; Hannibal, L; Klotz, K; Moritz, L; Spiekerkoetter, U | 1 |
| Amayra, I; Ceberio, I; García, M; López-Paz, JF; Luna, PM; Mansilla, N; Martínez, O; Pérez, M; Pérez-Núñez, P; Rodríguez, AA; Soria, C | 1 |
| Ahring, K; Jørgensen, C; Lund, AM; Nielsen, MR; Ørngreen, MC | 1 |
| Azevedo Soares, C; Carmona, C; Ferreira Almeida, M; Fortuna, AM; Soares, G; Tkachenko, N | 1 |
| Liu, Y; Westerhoff, HV | 1 |
| Barrile, GC; Cavioni, A; Gasparri, C; Mansueto, F; Mazzola, G; Patelli, Z; Perna, S; Peroni, G; Pirola, M; Porta, F; Razza, C; Rondanelli, M; Tartara, A | 1 |
| Gao, L; Kaushik, D; Kong, R; Milner, S; Smith, N | 1 |
| Baerwald, C; Heimbold, C; Kamrath, C; Krämer, J; Muntau, AC; Parhofer, KG; Reichert, A; Rutsch, F; Stolz, S; Weinhold, N | 1 |
| Longo, N; Rovelli, V | 1 |
| Balasubramaniam, S; Bandodkar, S; Devanapalli, B; Junek, R; Kim, WT; Mohammad, S; Parayil Sankaran, B; Wong, RSH; Wotton, T | 1 |
| de Moura Coelho, D; Delgado, CA; Deon, M; Faverzani, JL; Guerreiro, G; Hammerschmidt, TG; Lopes, FF; Mescka, CP; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Bilder, DA; Dimmock, D; Grant, ML; Jurecki, ER; McCandless, SE; Sanchez-Valle, A; Stahl, SM | 1 |
| Alili, JM; Goetz, V; Khalil, AE; Labarthe, F; Maillot, F; Maler, V; Meunier, P; Tardieu, M | 1 |
| Canton, M; Feillet, F; Jeannesson, E; Namour, F; Oussalah, A; Theron, M; Wiedemann, A | 1 |
| Hammoodi, HZ; Kareem, AA; Thoalnoon, OA | 1 |
| Ahring, K; Bayat, A; Cannet, C; Frauendienst-Egger, G; Freisinger, P; Godejohann, M; Himmelreich, N; Kockaya, M; MacDonald, A; Spraul, M; Trefz, F | 1 |
| Arias, C; Bunout, D; Cabello, JF; Cornejo, V; Leal-Witt, MJ; Rojas-Agurto, E | 1 |
| Adams, AD; Demarest, OM; Fiesco-Roa, MÓ; Hobert, JA; Jenkins, GP; Malinowski, J; Rothberg, PG; Wong, L | 1 |
| Baykan, A; Kardaş, F; Kendirci, M; Yılmaz, BK | 1 |
| Angeloni, A; Carducci, C; De Leo, S; Leuzzi, V; Manti, F; Nardecchia, F; Palermo, L; Romani, C | 1 |
| Gudex, T; Knerr, I; McNulty, J; O'Shea, M; Rice, J | 1 |
| Daly, A; Evans, S; Hickson, M; Ilgaz, F; Karabulut, E; MacDonald, A; Pinto, A; Rocha, JC; van Dam, E | 1 |
| De Giorgi, A; Leuzzi, V; Nardecchia, F; Romani, C | 1 |
| Bulut, FD; Burgac, E; Cicek, E; Kaplan, İ; Kara, E; Kilavuz, S; Kor, D; Koseci, B; Onenli Mungan, N | 1 |
| Hamazaki, T; Ishige, M; Ito, T; Kuwahara, M; Lee, L; Shintaku, H | 1 |
| Alptekin, IM; Barta, AG; Burlina, AB; Burlina, AP; Carretta, J; Cazzorla, C; Everts, R; Hermida-Ameijeiras, Á; Hochuli, M; Maissen-Abgottspon, S; Muri, R; Reismann, P; Trepp, R | 1 |
| Chadborn, N; Chong, L; Kalvala, J; Ojha, S | 1 |
| Çıkı, K; Coşkun, T; Dursun, A; Kahraman, AB; Özgül, RK; Sivri, S; Tokatlı, A; Yıldız, Y | 1 |
| Coelho, DM; Deon, M; Faverzani, JL; Guerreiro, G; Hammerschmidt, TG; Lopes, FF; Mescka, CP; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Birkeland, E; Haavik, J; Kleppe, R; Patil, S; Szigetvari, PD | 1 |
| Maugeri, L; Messina, MA; Petralia, S; Puccio, R; Ruggieri, M; Spoto, G | 1 |
| Angeloni, A; Bizzarri, M; Ialongo, C; Piombarolo, A | 1 |
| Becker Borin, D; Bolzan, J; Cielo Rech, V; da Silva Fernandes, L; de Almeida Vaucher, R; Diehl de Franceschi, I; Dotto Fontana, B; Duval Wannmacher, CM; Garcez, R; Grings, M; Ianiski, F; Leipnitz, G; Mezzomo, NJ; Parmeggiani, B | 1 |
| Bonham, JR; Carling, RS; Lemonde, H; Mei, JV; Moat, SJ; Schulenburg-Brand, D; Shortland, GS; Weykamp, CW | 1 |
| Bukowska-Posadzy, A; Kałużny, Ł; Musielak, M; Ołtarzewski, M; Staszewski, R; Walkowiak, D; Walkowiak, J | 1 |
| Bukowska-Posadzy, A; Kaluzny, L; Moczko, JA; Musielak, M; Oltarzewski, M; Staszewski, R; Walkowiak, D; Walkowiak, J | 1 |
| Ashmore, C; Covington, JA; Daly, A; Evans, S; Hattersley, J; MacDonald, A; Pinto, A; Tiele, A | 1 |
| Adam, S; Adams, S; Cozens, A; Dawson, C; Dunlop, C; Firman, S; Green, B; Hubbard, G; Jenkinson, F; Nicol, C; Rahman, Y; Robertson, L; Stratton, R | 1 |
| Chiarotti, F; Leuzzi, V; Nardecchia, F; van Spronsen, FJ; van Vliet, D | 1 |
| Amaro, MP; Leandro, J; Leandro, P; Lopes, RR; Mertens, HDT; Sousa, PMF; Tomé, CS; Vicente, JB | 1 |
| de Blaauw, P; Heiner-Fokkema, MR; Kema, IP; Martinez, A; van der Goot, E; van der Zee, EA; van Faassen, MHJR; van Ginkel, WG; van Spronsen, FJ; van Vliet, D | 1 |
| Campistol Plana, J | 1 |
| Andrews, AM; Cheung, KM; Jung, ME; Nakatsuka, N; Stojanović, MN; Weiss, PS; Yang, H; Yang, KA; Ye, M; Zhao, C | 1 |
| Berguig, GY; Bullens, S; Creer, AY; Martin, NT; Murphy, R; Olbertz, J; Pacheco, G; Weng, HH; Xie, L; Zhang, L | 1 |
| Ford, S; Hofman, DL; MacDonald, A; Vardy, ERLC | 1 |
| Charriere, S; Douillard, C; Feillet, F; Fouilhoux, A; Jaulent, P; Thobois, S | 1 |
| Ahring, K; Bik-Multanowski, M; Casas, K; Didycz, B; Djordjevic, M; Hanley, WB; Hertecant, JL; Leuzzi, V; Mathisen, P; Nardecchia, F; Powell, KK; Rutsch, F; Stojiljkovic, M; Trefz, FK; Usurelu, N; van Karnebeek, CD; van Spronsen, FJ; van Vliet, D; van Wegberg, AMJ; Wilson, C | 1 |
| Ashmore, C; Cochrane, B; Daly, A; Evans, S; Kearney, S; MacDonald, A; Wildgoose, J | 1 |
| Carducci, C; De Leo, S; Fallarino, N; Leuzzi, V; MacDonald, A; Manti, F; Nardecchia, F; Palermo, L; Romani, C; Valentini, F | 2 |
| Dokoupil, K; Lotz-Havla, A; Maier, EM; Weiss, K | 1 |
| Anastosoaie, V; Baker, JL; DiBona, K; Hawthorne, S; Kinch, D; Lamppu, D; Levy, H; Lindenberger, J; McIlduff, M; Seymour, A; Vockley, J; Watling, S | 1 |
| de Vries, MC; Evers, RAF; Heiner-Fokkema, MR; Janssen, MCH; van Dam, E; van Spronsen, FJ; van Wegberg, AMJ | 1 |
| Karvaly, GB; Kiss, E; Komka, Z; Kovacs, K; Patocs, A; Reismann, P; Simon, E; Sumanszki, C; Toth, M | 1 |
| Abgottspon, S; Bosanska, L; Everts, R; Hochuli, M; Kreis, R; Muri, R; Rummel, C; Slotboom, J; Trepp, R | 1 |
| de Blaauw, P; Heiner-Fokkema, MR; Kingma, HA; Koehorst, M; van Dam, E; van Ginkel, WG; van Spronsen, FJ; van Vliet, K | 1 |
| Bravaccio, C; Marino, M; Parenti, G; Riccio, MP; Scala, I; Strisciuglio, P | 1 |
| Apetrei, C; Dinu, A | 1 |
| Hennermann, JB; Hopf, S; Nowak, C; Pfeiffer, N; Pitz, S; Schmidtmann, I | 1 |
| Braegelman, AS; Camden, JP; Olson, JE; Webber, MJ; Zou, L | 1 |
| Abeln, D; de Blaauw, P; Heiner-Fokkema, MR; Maatman, RGHJ; Melis, ES; van Dam, E; van Spronsen, FJ; van Vliet, K | 1 |
| Ahring, K; Beblo, S; Bélanger-Quintana, A; Burlina, A; Campistol, J; Coşkun, T; Feillet, F; Giżewska, M; Huijbregts, SC; Leuzzi, V; MacDonald, A; Maillot, F; Muntau, AC; Rocha, JC; Romani, C; Trefz, F; van Spronsen, FJ; van Wegberg, AMJ | 1 |
| Ponzone, A; Porta, F; Spada, M | 3 |
| Anikster, Y; Belanger-Quintana, A; Blau, N; Bonfim-Freitas, PE; Burlina, A; Burton, BK; Carducci, C; Chiesa, AE; Christodoulou, J; Desviat, LR; Eliyahu, A; Evers, RAF; Fajkusova, L; Feillet, F; Garbade, SF; Giżewska, M; Gundorova, P; Hillert, A; Hoffmann, GF; Karall, D; Kneller, K; Kutsev, SI; Leuzzi, V; Levy, HL; Lichter-Konecki, U; Muntau, AC; Namour, F; Oltarzewski, M; Paras, A; Perez, B; Polak, E; Polyakov, AV; Porta, F; Rohrbach, M; Santana-da Silva, LC; Scholl-Bürgi, S; Shen, N; Skouma, A; Spécola, N; Stojiljković, M; Stoppioni, V; Thöny, B; Trefz, FK; van Spronsen, F; Vockley, J; Yu, Y; Zschocke, J; Đorđević, M | 1 |
| Jameson, E; Remmington, T | 1 |
| Burlina, AB; Burlina, AP; Cazzorla, C; Gueraldi, D; Loro, C; Massa, P | 1 |
| Couce, ML; de Castro, MJ; de Lamas, C; González-Lamuño, D; Sánchez-Pintos, P | 1 |
| Adam, S; Adams, S; Allen, H; Ashmore, C; Bailey, S; Banks, J; Churchill, H; Cochrane, B; Cook, J; Dale, C; Daly, A; Dixon, M; Dunlop, C; Ellerton, C; Emm, A; Evans, S; Firman, S; Ford, S; French, M; Gribben, J; Grimsley, A; Herlihy, I; Hill, M; Judd, S; Lang, K; MacDonald, A; Males, J; McDonald, J; McStravick, N; Millington, C; Newby, C; Noble, C; Pereira, R; Pinto, A; Robertson, L; Robotham, A; Ross, K; Singleton, K; Skeath, R; Terry, A; Van Wyk, K; White, F; White, L; Wildgoose, J; Woodall, A | 1 |
| Dashtian, K; Ghaedi, M; Hajati, S | 1 |
| Ashmore, C; Daly, A; Evans, S; Jackson, R; MacDonald, A; Pinto, A; Rocha, JC | 2 |
| Banerjee, P; Ghosh, M; Mishra, S; Nandi, PK; Pal, S; Rajak, K; Sarkar, N | 1 |
| Arnold, G; DeLuca, J; Lowe, TB | 1 |
| Arnold, GL; DeLuca, J; Lowe, TB | 1 |
| Baerwald, C; Heddrich-Ellerbrok, M; Hennermann, JB; Klimek, A; Lang, F; Ott, M; Parhofer, KG; Plöckinger, U; Rutsch, F; Schöne, K; Schwarz, M; Vom Dahl, S | 1 |
| Dudley, S; Fedorov, L; Harding, CO; Richards, DY; Rimann, N; Thöny, B; Winn, SR | 1 |
| Benne, JA; Christ, SE; Dobrowolski, SF; Ghaloul-Gonzalez, L; Gollin, SM; Hansen, SA; Johnson, MA; Koppes, EA; Leshinski, A; Lewis, DW; Lichter-Konecki, U; Murphy, SL; Newsome, JT; Nicholls, RD; Prather, RS; Redel, BK; Samuel, MS; Skvorak, KJ; Spate, LD; Vockley, J; Wagner, RA; Walters, EM; Wells, KD; Wu, YL; Yates, ME; Yerle, M | 1 |
| Berg, D; Brockmann, K; Deuschle, C; Freisinger, P; Gramer, G; Haas, D; Hauser, AK; Hoffmann, GF; Leks, E; Liepelt-Scarfone, I; Maetzler, W; Padovani, A; Pilotto, A; Schaeffer, E; Scheffler, K; Schulte, C; Trefz, F; van Spronsen, FJ; Zipser, CM | 1 |
| Burdock, GA; Cowley, AB; Li, QS | 1 |
| Cao, Z; Kong, Y; Li, T; Liu, W; Ma, Z; Rosenbaum, ER; Song, B; Wan, Z; Yue, X; Zhai, Y | 1 |
| Burlina, A; Carbone, MT; Leuzzi, V; Paci, S; Spada, M; Tummolo, A | 1 |
| Andrews, A; Burlina, A; Longo, N; Manzoni, F; Pasquali, M; Salvatici, E | 1 |
| Firman, S; O'Keeffe, M; Ramachandran, R; Witard, OC | 1 |
| Foska, A; Kasti, A; Kotsali-Peteinelli, V; Lachanis, S; Mylona, V; Palaiodimou, L; Papagiannopoulou, G; Skouma, A; Theodorou, A; Tsivgoulis, G; Zompola, C | 1 |
| Endo, F; Ida, H; Ito, T; Kure, S; Matsubara, Y; Matuo, M; Nakamura, K; Ohura, T; Okano, Y; Okuyama, T; Owada, M; Shintaku, H; Takayanagi, M; Yoshino, M | 1 |
| Remmington, T; Smith, S | 1 |
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| Burton, BK; Feigenbaum, A; Konczal, LL; Lilienstein, J; Longo, N; McCandless, SE; Rowell, R; Sanchez-Valle, A; Waisbren, S; Whitehall, KB | 1 |
| Ashmore, C; Daly, A; Evans, S; MacDonald, A; Pinto, A | 1 |
| Boemer, F; Debray, FG; Kabbaj, SE; Meiouet, F | 1 |
| Blair, HC; Dobrowolski, SF; Goetzman, ES; Phua, YL; Spridik, K; Sudano, C; Tourkova, IL; Vockley, J | 1 |
| Ahring, K; Beblo, S; Bélanger-Quintana, A; Bosch, AM; Burlina, A; Campistol, J; Coskun, T; Evers, RAF; Feillet, F; Giżewska, M; Huijbregts, SCJ; Kearney, S; Langeveld, M; Leuzzi, V; MacDonald, A; Maillot, F; Muntau, AC; Rocha, JC; Romani, C; Trefz, FK; van Spronsen, FJ; van Wegberg, AMJ | 1 |
| Amorim, T; Boa-Sorte, N; Leite, MEQ; Nogueira, ZD; Toralles, MBP | 1 |
| Sun, XM; Wang, LY; Wu, J; Zhu, TT | 1 |
| Remor, E; Schwartz, IVD; Teruya, KI | 1 |
| Burgerhof, J; de Vries, MC; Evers, R; Heiner-Fokkema, MR; Janssen, M; van Dam, E; van Spronsen, FJ; van Wegberg, A | 1 |
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| Diogo, L; Domingues, MR; Domingues, P; Guerra, IMS; Melo, T; Moreira, ASP; Pinho, M | 1 |
| Aubi, O; Grindheim, AK; Jung-Kc, K; Martinez, A; McCann, A; Prestegård, KS; Scherer, T; Shi, TS; Spriet, E; Thöny, B; Ulvik, A; Ying, M | 1 |
| Aldabe, R; Allen, KL; Cao, W; Douar, A; González-Aseguinolaza, G; Hillin, LG; Kaiser, RA; Lillegard, JB; Martinez, M; Trigueros-Motos, L; VanLith, CJ; Weber, ND | 1 |
| Ashmore, C; Crabtree, N; Daly, A; Evans, S; Högler, W; Jackson, R; MacDonald, A; Pinto, A; Rocha, JC; Shaw, N; Strauss, BJ; Wilcox, G | 1 |
| Castillo, MJ; Charbonneau, MR; Coia, HG; Greenwood, ES; Holt, C; Lubkowicz, D; Mauzy, CA; Merrill, EA; Nelson, MT; Robinson, PJ | 1 |
| Blau, N; Bosch, AM; Burlina, A; Harding, C; Longo, N; van Spronsen, FJ | 1 |
| Burton, BK; Gu, Z; Gupta, S; Harding, CO; Henshaw, J; Larimore, K; Li, M; Longo, N; Merilainen, M; Olbertz, J; Patel, G; Qi, Y; Schweighardt, B; Weng, HH; Zoog, SJ; Zori, R | 1 |
| Lah, M; McPheron, M | 1 |
| Alexander, K; Calingaert, B; Foreman, PK; Harding, A; Landis, S; Margulis, AV; Pladevall-Vila, M; Shediac, R | 1 |
| Martell, L; Rohr, F; Sacharow, S; Viau, K; Wessel, A | 1 |
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| Didycz, B; Jaglowska, J; Kałużny, Ł; Kurylak, D; Mikołuć, B; Mozrzymas, R; Walkowiak, D; Walkowiak, J | 1 |
| Brito, VB; de Moura Coelho, D; Deon, M; Faverzani, JL; Ferro, MB; Guerreiro, G; Henn, JG; Lopes, FF; Marchetti, DP; Moura, DJ; Nascimento, LVM; Sitta, A; Steffens, L; Steinmetz, A; Vargas, CR; Wajner, M | 1 |
| Chrastina, P; Jahnova, H; Prochazkova, D; Prochazkova, L; Sanakova, P; Sebron, V; Tesarova, B; Zeman, J; Zemanova, M | 1 |
| Chikada, S; Kakurai, Y; Seki, S; Tamura, M; Wada, K | 1 |
| Blau, N; Calin, GA; Chatterjee, SS; Coarfa, C; Egranov, SD; Feillet, F; Guéant, JL; Gunaratne, PH; Han, L; Hawke, DH; Hsiao, H; Hu, Q; Hung, MC; Jun, Y; Li, C; Li, Y; Li, YC; Liang, K; Liao, L; Lin, C; Muntau, AC; Namour, F; Nguyen, TK; Pan, Y; Putluri, N; Schiff, M; Sutton, VR; Tan, Z; Tsai, KL; Xing, Z; Xu, J; Yang, L; Ye, Y; Zhang, S; Zhang, Y; Zhang, Z | 1 |
| Ghosh, B; Ghosh, M; Layek, S; Nandi, PK; Nandi, S; Sarkar, N | 1 |
| Blair, HC; Dobrowolski, SF; Larrouture, QC; Sudano, CR; Tourkova, IL | 1 |
| Amieva, MV; Castro, G; Chiesa, A; Colmenares, AR; Cornejo, V; Dos Santos, BB; Leal-Witt, MJ; Lemes, A; Mahfoud, A; Morales, M; Naranjo, ARC; Paranza, LO; Peñaloza, F; Pereyra, M; Perez, C; Poloni, S; Porras, RB; Refosco, LF; Rey, LM; Saborío-Rocafort, M; Salazar, MF; Sanabria, MC; Schwartz, IVD; Sotillo-Lindo, JF; Specola, N; Torriente, GMZ; Wong, SP | 1 |
| Bosch, AM; Brouwers, MCGJ; de Sonneville, LMJ; de Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Legemaat, AM; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ | 1 |
| Bisschop, PH; Bosch, AM; Demirdas, S; Hollak, CEM; Rubio-Gozalbo, ME; Ter Horst, NM; van der Lee, JH; van Spronsen, FJ; Vaz, FM | 1 |
| Farhadi, S; Greber-Platzer, S; Item, CB; Schanzer, A | 1 |
| Cesana, G; Giovannini, M; Indovina, S; Madotto, F; Riva, E; Riva, MA; Salvatici, E; Turato, M | 1 |
| Alcalde Martín, C; Conde-Guzon, MJ; Conde-Guzon, P; González García, MB; Velasco Zúñiga, R | 1 |
| Escarpa, A; García-Carmona, L; González, MC; Moreno-Guzmán, M | 1 |
| Cooper, JD; Corado, CR; Goldfinger, M; Laipis, PJ; O'Neill, CA; Tsuruda, LS; Zeile, WL | 1 |
| Allen, MS; Durrer, KE; Hunt von Herbing, I | 1 |
| Angeloni, A; Blau, N; Carducci, C; Chiarotti, F; Leuzzi, V; Nardecchia, F; Santagata, S; Valentini, G | 1 |
| Abeling, NGGM; Bakermans, AJ; Bassett, AS; Booij, J; Boot, E; Bosch, AM; Bour, LJ; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Nederveen, AJ; Nieman, DH; van Amelsvoort, TAMJ; van Spronsen, FJ; van Vliet, D | 1 |
| Baudenbacher, F; Dawson, E; Kazura, E; Lubbers, BR; Phillips, JA | 1 |
| Bulut, FD; Ceylaner, S; Kör, D; Mungan, NÖ; Yılmaz, BŞ | 1 |
| Jaffe, EK | 1 |
| Boneh, A; Evans, M; Truby, H | 1 |
| Bosch, AM; Brouwers, MCGJ; de Sonneville, LMJ; de Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ | 2 |
| Bik-Multanowski, M; Didycz, B | 1 |
| Anand, BG; Dubey, K; Kar, K; Shekhawat, DS | 1 |
| Daly, A; Evans, S; MacDonald, A; MacDonald, J; Pinto, A | 1 |
| Perkins, R; Vaida, V | 1 |
| Ah Mew, N; Ayyub, O; Lyons, K; Rasberry, M; Viall, S | 1 |
| Conoci, S; Meli, C; Messina, MA; Petralia, S | 1 |
| Binkley, N; Hansen, KE; Ney, DM | 1 |
| Barta, AG; Reismann, P; Sumánszki, C | 1 |
| Hu, H; Hu, P; Ji, X; Jiang, T; Liang, D; Sun, Y; Wang, X; Xu, T; Xu, Z; Zhang, J | 1 |
| Bruinenberg, VM; de Blaauw, P; Heiner-Fokkema, MR; Kema, IP; van der Goot, E; van der Zee, EA; van Faassen, M; van Spronsen, FJ; van Vliet, D | 1 |
| Ben, X; Lu, L; Peng, M; Xiao, L; Zhang, Y | 1 |
| Carvalho, LM; Maia, HS; Monteiro, CB; Ribeiro, MG; Schwartz, IVD; Tonon, T; Vanz, AP; Vieira, E | 1 |
| Celik, H; Kaplan, DS; Kumru, B; Oztürk Hismi, B | 1 |
| Harding, CO; Martinez, A; Raber, J; Scherer, T; Thöny, B; Weber, S; Winn, SR; Ying, M | 1 |
| Borsch, J; Büttner, L; Danecka, MK; Eichinger, A; Gersting, SW; Möglich, T; Muntau, AC; Woidy, M | 1 |
| Paul, DB; Ross, LF | 3 |
| Amato, RS; Burton, BK; Gu, Z; Harding, CO; Jiang, J; Longo, N; Merilainen, M; Posner, J; Stuy, M; Vockley, J; Weng, HH | 1 |
| Amato, S; Bilder, DA; Dimmock, D; Gu, Z; Gupta, S; Harding, CO; Jiang, J; Larimore, K; Levy, H; Merilainen, M; Northrup, H; Olbertz, J; Thomas, J; Vockley, J; Weng, HH; Zori, R | 1 |
| Bigini, N; Cabib, S; Carducci, C; Colamartino, M; Gabucci, C; Leuzzi, V; Magnani, M; Pascucci, T; Pierigè, F; Puglisi-Allegra, S; Rossi, L; Sasso, V; Valzania, A; Ventura, R; Viscomi, MT | 1 |
| Baghban, HN; Hasanzadeh, M; Mahboob, S; Mokhtarzadeh, A; Shadjou, N; Zargami, A | 1 |
| Dong, Z; Liu, Y; Yu, S | 1 |
| Levy, HL; Sarkissian, CN; Scriver, CR | 1 |
| Aldámiz-Echevarría, L; Correcher, P; Couce, ML; De Castro, MJ; Fernández-Marmiesse, A; Hermida, A; Leis, R; Martínez-Olmos, M; Roca, I; Sánchez-Pintos, P; Vitoria, I | 1 |
| Reardon, S | 1 |
| Bartus, A; Juhasz, E; Kiss, E; Palasti, F; Reismann, P; Simonova, E; Sumanszki, C | 1 |
| Burton, BK; Decker, C; Jiang, J; Larimore, K; Lau, K; Li, M; Longo, N; Thomas, JA; Vockley, J; Wasserstein, MP; Zori, R | 1 |
| Bertolino, FA; Messina, GA; Moreira, CM; Pereira, SV; Raba, J | 1 |
| Bosch, AM; Brouwers, MCGJ; De Sonneville, LMJ; De Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Rubio-Gozalbo, ME; Simons, QA; Van der Meere, JJ; Van der Ploeg, AT; Van Spronsen, FJ | 1 |
| Belanger, AM; Cheng, SH; Furgerson, M; Gefteas, E; Geller, S; Kloss, A; Przybylska, M; Yew, NS; Zhu, Y | 1 |
| Feldmann, R; Nguyen, T; Och, U; Rutsch, F; Schallert, M; Weglage, J | 1 |
| Awan, FR; Ayesha, H; Khan, HN; Wasim, M | 1 |
| Dogan, M; Ekin, S; Gok, F; Karakus, Y | 1 |
| Decker, C; Larimore, K; Li, M; Longo, N; Rizzo, WB; Rosen, O; Schweighardt, B; Shur, N; Thomas, JA; Zori, R | 1 |
| Ahring, K; Bik-Multanowski, M; Blau, N; Bulut, FD; Casas, K; Didycz, B; Djordjevic, M; Federico, A; Feillet, F; Gizewska, M; Gramer, G; Hanley, WB; Hertecant, JL; Hollak, CEM; Jørgensen, JV; Karall, D; Landau, Y; Leuzzi, V; Mathisen, P; Moseley, K; Mungan, NÖ; Nardecchia, F; Õunap, K; Powell, KK; Ramachandran, R; Rutsch, F; Setoodeh, A; Stojiljkovic, M; Trefz, FK; Usurelu, N; van Karnebeek, CD; van Spronsen, FJ; van Vliet, D; van Wegberg, AMJ; Wilson, C | 1 |
| Champ, CL; Dye, L; Henderson, M; Hofman, DL; Lawton, CL | 1 |
| Binz, PA; Fabritz, S; Griss, R; Haas, D; Hiblot, J; Johnsson, K; Okun, JG; Roux, C; Xue, L; Yu, Q | 1 |
| Alvarez, I; Burton, BK; Cederbaum, S; Irwin, DE; Jones, KB; Jurecki, E; Kim, G; Levy, H; Lilienstein, J; Rohr, F; Waisbren, S | 1 |
| MacDonald, A; Rocha, JC; Singh, RH; van Spronsen, FJ | 1 |
| Cháfer-Pericás, C; Correcher, P; García-Blanco, A; Rausell, D; Vento, M; Vitoria, I | 1 |
| Chen, PS; Chou, YC; Jair, YC; Lin, C; Yeh, YC | 1 |
| Atkinson, JP; Boyer, R; Gu, Z; Gupta, S; Harding, CO; Knight, V; Larimore, K; Lau, K; Li, M; Olbertz, J; Rosen, O; Schweighardt, B; Shepherd, G; Weng, HH; Zoog, SJ | 1 |
| Azevedo, L; Borges, N; Daly, A; MacDonald, A; Pena, MJ; Pinto, A; Rocha, JC | 1 |
| Chen, T; Han, J; Jiang, P; Shu, Q; Tong, F; Wu, D; Xu, W; Yang, R; Zhao, Z; Zhu, L | 1 |
| López, MEI; Martín, CA; Salamanca-Zarzuela, B | 1 |
| Bausell, H; Bilder, DA; Burton, B; Dimmock, D; Gross, C; Harding, CO; Levy, H; Longo, N; Northrup, H; Rohr, F; Sacharow, S; Sanchez-Valle, A; Stuy, M; Thomas, J; Viau, K; Vockley, J; Zori, R | 1 |
| Feldmann, R; Fromm, J; Onon, S; Osterloh, J; Rutsch, F; Weglage, J | 1 |
| Adam, S; Adams, S; Ash, J; Ashmore, C; Caine, G; Carruthers, R; Cawtherley, S; Chahal, S; Clark, A; Cochrane, B; Daly, A; Dines, K; Dixon, M; Dunlop, C; Ellerton, C; Evans, S; Ford, S; French, M; Gaff, L; Gingell, C; Green, D; Gribben, J; Grimsley, A; Hallam, P; Hendroff, U; Hill, M; Hoban, R; Howe, S; Hunjan, I; Kaalund, K; Kelleher, E; Khan, F; Kitchen, S; Lang, K; Lowry, S; MacDonald, A; Males, J; Martin, G; McStravick, N; Micciche, A; Newby, C; Nicol, C; Pereira, R; Robertson, L; Ross, K; Simpson, E; Singleton, K; Skeath, R; Stafford, J; Terry, A; Thom, R; Tooke, A; vanWyk, K; White, F; White, L | 1 |
| Chen, C; Cui, Y; Li, M; Ma, L; Qu, J; Wang, E; Yang, T; Zhou, Y | 1 |
| Chahal, S; Daly, A; Evans, S; Gingell, C; Jackson, R; MacDonald, A; Pinto, A; Rocha, J; Santra, S; Van Spronsen, FJ | 1 |
| Lichter-Konecki, U; Vockley, J | 1 |
| Bruinenberg, VM; Counotte, DS; Kuhn, M; van der Goot, E; van der Zee, EA; van Spronsen, FJ; van Vliet, D | 1 |
| Azevedo, TD; Cândido, LMB; Krüger, CCH; Piltz, MT; Silva, ÁT | 1 |
| Alteri, CJ | 1 |
| Ahring, K; Almeida, MF; Bélanger-Quintana, A; Dokoupil, K; Gökmen-Özel, H; Harbage, E; Heidenborg, C; MacDonald, A; Robert, M; Rocha, JC; van Dam, E | 1 |
| Dayanath, BKTP; Dayasiri, KC; Jasinge, E; Nawarathne, D; Senanayake, UE; Suraweera, N; Weerasekara, K | 1 |
| Bagheri, S; Chalak, V; Eshraghi, P; Noroozi Asl, S | 1 |
| Galgoczi, E; Kiss, E; Kovacs, B; Nagy, EV; Patocs, A; Reismann, P; Simon, E; Soos, A; Sumanszki, C | 1 |
| Bortoluzzi, VT; Brust, L; de Franceschi, ID; Preissler, T; Wannmacher, CMD | 1 |
| Grisch-Chan, HM; Harding, CO; Schwank, G; Thöny, B | 1 |
| Evers, RAF; van Spronsen, FJ; van Vliet, D | 1 |
| Andria, G; Burlina, A; Cerone, R; Giovannini, M; Leuzzi, V; Riva, E | 1 |
| Flydal, MI; Martinez, A | 1 |
| Cheng, B; Giezen, A; Hartnett, C; Horvath, G; Lillquist, Y; Salvarinova-Zivkovic, R; Stockler-Ipsiroglu, S; Vallance, H; Yap-Todos, E | 1 |
| Berry, SA; Brown, C; Cederbaum, S; Grant, M; Greene, CL; Jurecki, E; Koch, J; Moseley, K; Suter, R; van Calcar, SC; Wiles, J | 1 |
| Hamosh, A; Hoover-Fong, J; Koerner, C; Martino, T; Yenokyan, G | 1 |
| Adam, S; Boocock, S; Donald, S; MacDonald, A; McStravick, N; Micciche, A; Ripley, S; Robertson, LV; Weetch, E | 1 |
| Araujo, GC; Christ, SE; Coleman, C; Grange, DK; Steiner, RD; Timmerman, E; White, DA | 1 |
| Antenor-Dorsey, JA; Christ, SE; Grange, DK; Hershey, T; McKinstry, RC; Rutlin, J; Shimony, JS; White, DA | 2 |
| Gao, J; Gu, X; He, Y; Liang, L; Lu, L; Zhang, X | 1 |
| Bókay, J; Kiss, E; Simon, E; Szőnyi, L | 1 |
| Endo, W; Hino-Fukuyo, N; Kobayashi, T; Kure, S; Nakayama, T; Sakamoto, O; Sato, H; Shintaku, H; Uematsu, M | 1 |
| Brichta, CM; Clement, HW; Fleischhaker, C; Grünert, SC; Hennighausen, K; Krebs, A; Rauh, R; Sass, JO; Schwab, KO | 1 |
| Jeong, JS; Kim, SK; Park, SR | 1 |
| Anjema, K; Bélanger-Quintana, A; Billette de Villemeur, T; Blau, N; Bosch, AM; Burlina, A; Cerone, R; Couce, ML; Damaj, L; Feillet, F; Giovannini, M; Keil, S; Kern, I; Lambruschini, N; Leuzzi, V; Lotz-Havla, AS; Meli, CA; Muntau, AC; Riva, E; van Spronsen, FJ | 1 |
| de Sain-van der Velden, MG; Holwerda-Loof, NE; Prinsen, HC; Verhoeven-Duif, NM; Visser, G | 1 |
| Webster, D; Wildgoose, J | 2 |
| Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Llarena, M; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I | 1 |
| Anwar, MS; O'Riordan, J; Waddell, B | 1 |
| Cheng, SH; Crawley, C; Dufour, E; Foster, M; Gentry, S; Godfrin, Y; Horand, F; Kloss, A; Meyzaud, A; Przybylska, M; Putelat, J; Reczek, D; Yew, NS | 1 |
| Marcason, W | 1 |
| Gu, X; Han, L; Liang, L; Qiu, W; Ye, J; Zhang, H; Zhu, T | 1 |
| Ding, Y; Fu, D; Fu, Q; Huang, X; Lu, Z; Lv, Z; Shen, Y; Yang, P; Yu, T; Yu, Y; Zhang, X | 1 |
| Soloway, AH; Soloway, PD; Warner, VD | 1 |
| Arning, E; Bottiglieri, T; Gibson, KM; Vogel, KR; Wasek, BL | 2 |
| Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Feillet, F; Goyens, P; Lammardo, AM; MacDonald, A; Ozel, HG; Robert, M; Rocha, JC; van Rijn, M | 1 |
| Blessing, H; Chaudhri, MA; Knerr, I; Seyferth, S; Watling, RJ | 1 |
| Ingenito, L; Parenti, G; Pecce, R; Ruoppolo, M; Scolamiero, E | 1 |
| Andrade, VM; Cararo, JH; Damiani, AP; Dos Santos, RM; Ferreira, GC; Furlanetto, CB; Leffa, DD; Macan, TP; Machado, JL; Scaini, G; Schuck, PF; Simon, KR; Streck, EL | 1 |
| Christ, SE; Peck, D; Peng, H; White, DA | 1 |
| MacDonald, A; Rocha, JC; Trefz, F | 1 |
| Feldmann, R; Fromm, J; Koletzko, B; Marquardt, T; Möller, HE; Rutsch, F; van Teeffelen-Heithoff, A; Weglage, J | 1 |
| Hanley, WB | 2 |
| Bélanger-Quintana, A; Bettiol, E; Blau, N; Burlina, A; Cleary, M; Feillet, F; Gasteyger, C; Giżewska, M; MacDonald, A; Muntau, AC; Trefz, F; van Spronsen, FJ | 1 |
| Nagasaka, H; Okano, Y | 1 |
| Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Peña-Quintana, L; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I | 1 |
| Blank, RD; Hansen, KE; Ney, DM | 1 |
| Almeida, MF; Borges, N; Guimarães, JT; Ramos, E; Rocha, JC; van Spronsen, FJ | 1 |
| Bosch, AM; Brouwers, MC; de Sonneville, LM; de Vries, MC; Hofstede, FC; Hollak, CE; Huijbregts, SC; Jahja, R; Janssen, MC; Langendonk, JG; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ | 1 |
| Abraham, S; Anikster, Y; Brenner, O; Harmelin, A; Pode-Shakked, B; Schwartz, G; Shemer-Meiri, L; Stettner, N | 1 |
| Campistol, J; Gassió, R; Huijbregts, SC | 1 |
| Arelin, M; Baerwald, C; Beblo, S; Gerloff, J; Heller, C; Kiener, C; Kiess, W; Müller, AS; Mütze, U; Rohde, C; Schultz, S; Thiele, AG; von Teeffelen-Heithoff, A | 1 |
| Almeida, MF; Alves, RC; Costa, AS; Oliveira, MB; Pimentel, FB; Torres, D | 1 |
| Bik-Multanowski, M; Chrobot, A; Cichy, W; Didycz, B; Gizewska, M; Kaluzny, L; Lange, A; Mikoluc, B; Mozrzymas, R; Oltarzewski, M; Pietrzyk, JJ; Starostecka, E; Szymczakiewicz-Multanowska, A; Ulewicz-Filipowicz, J | 1 |
| Banta-Wright, SA; Houck, GM; Knafl, KA; Press, N; Steiner, RD | 1 |
| Andersson, HC; Antshel, KM; Berry, SA; Braverman, NE; Burton, BK; Frazier, DM; Mitchell, J; Smith, WE; Thompson, BH; Vockley, J | 1 |
| Acosta, PB; Cunningham, A; Frazier, D; Huntington, K; Mofidi, S; Moseley, K; Ogata, B; Rohr, F; Singh, RH; Splett, PL; Van Calcar, SC; Vockley, J | 1 |
| Cochrane, B; Galloway, P; Gerasimidis, K; Robinson, P; Schwahn, B | 1 |
| Beblo, S; Ceglarek, U; Kiess, W; Mueller, AS; Mütze, U; Rohde, C; Schulz, S; Thiele, AG; Thiery, J | 1 |
| Gu, Q; Gu, XF; Jiang, JH; Lu, J; Shen, M; Zhao, ZY; Zhou, XL; Zou, H | 1 |
| Arora, A; Rai, RK; Singh, V; Sinha, N; Thakur, AK | 1 |
| de Sonneville, LM; Huijbregts, SC; Jahja, R; van der Meere, JJ; van Spronsen, FJ | 1 |
| Corbo, C; Daniele, A; Imperlini, E; Orrù, S; Salvatore, F | 1 |
| Murali, SG; Ney, DM; Sawin, EA | 1 |
| Christ, SE; Grange, DK; Hood, A; Steiner, R; White, DA | 1 |
| Chuah, MK; Harbottle, RP; Harding, CO; Schlegel, A; Thöny, B; VandenDriessche, T; Viecelli, HM; Wong, SP | 1 |
| Hirano, K; Hirayama, S; Hui, SP; Miida, T; Nagasaka, H; Ohtake, A; Ohura, T; Okano, Y; Sakurai, T; Tsukahara, H; Usui, H; Yorifuji, T | 1 |
| Aguiar-Oliveira, MH; Magalhães, MM; Matos, DO; Oliveira, AL; Oliveira, CR; Oliveira, MC; Ramalho, AR; Ramalho, RJ; Santos, EG; Sarmento, PM | 1 |
| Derks, TG; van Spronsen, FJ | 1 |
| Burton, BK; Dorenbaum, A; Grange, DK; Gu, Z; Harding, CO; Longo, N; Musson, DG; Neuenburg, JK; Rice, GM; Sile, S; Vockley, J; Wasserstein, M | 1 |
| Donaldson, M; Giacomozzi, C; Lucaccioni, L; Schwahn, BC | 1 |
| Blau, N; Carducci, C; Shen, N | 1 |
| Hansen, KE; Ney, D | 1 |
| Bell, SM; Canonico, B; Carducci, C; Fitzpatrick, PA; Gabucci, C; Leuzzi, V; Magnani, M; Pascucci, T; Pierigè, F; Rossi, L | 1 |
| Gu, X | 1 |
| Yang, Y; Ye, Y | 1 |
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| Chakrapani, A; Daly, A; Evans, S; MacDonald, A; MacDonald, J; Preece, MA; Santra, S; Vijay, S | 1 |
| Burton, BK; Dimmock, D; Feigenbaum, A; Jurecki, E; Lang, W; Longo, N; Prasad, S; Siriwardena, K; Stockler, S; Waisbren, S; Zhang, C | 1 |
| Battelino, T; Groselj, U; Kovac, J; Murko, S; Repic Lampret, B; Trampus Bakija, A; Zerjav Tansek, M | 1 |
| Almeida, MF; Alves, RC; Costa, AS; Delerue-Matos, C; Fernandes, TJ; Oliva-Teles, MT; Oliveira, MB; Pimentel, FB; Torres, D | 1 |
| Horling, K; Rune, GM; Santer, R; Schlegel, G; Schulz, S; Ullrich, K; Vierk, R | 1 |
| Cao, Z; Han, B; Liu, Y; Zhu, W; Zou, H | 1 |
| de Groot, MJ; Paans, AM; Reijngoud, DJ; Sijens, PE; van Spronsen, FJ | 1 |
| Kohno, Y; Matsumoto, A; Nakaya, H; Sanayama, Y; Shimojo, N | 1 |
| De Los Reyes, K; Fu, E; Monnat, RJ; Robinson, R; Thiessen, G | 1 |
| Brown, M; Charette, K; Levy, HL; Rohr, F; Wessel, A | 1 |
| Belanger-Quintana, A; Burlina, A; Demirkol, M; Feillet, F; Gasteyger, C; Giovannini, M; MacDonald, A; Muntau, AC; Trefz, FK; van Spronsen, FJ | 1 |
| Antenor-Dorsey, JA; Christ, SE; Grange, DK; Hershey, T; Hood, A; McKinstry, RC; Rutlin, J; Shimony, JS; Steiner, R; White, DA | 1 |
| Apatean, D; Cheng, B; Giezen, A; Ho, G; Lillquist, Y; Salvarinova, R; Stockler-Ipsiroglu, S; Ueda, K; Yuskiv, N | 1 |
| Burton, B; Feigenbaum, A; Gillis, J; Grant, M; Hendren, R; Lang, W; Merilainen, M; Phillips, J; Prasad, S; Sanchez-Valle, A; Singh, R; Siriwardena, K; Stahl, S; Waisbren, S; Yu, S; Zhang, C | 1 |
| Christ, E; Gautschi, M; Nuoffer, JM; Pers, S; Schwarz, HP | 1 |
| Bosch, AM; Brouwers, MC; de Sonneville, LM; de Vries, MC; Hofstede, FC; Hollak, CE; Huijbregts, SC; Jahja, R; Janssen, MC; Langendonk, JG; Liemburg, GB; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ | 1 |
| Bell, DA; Burnett, JR; Hooper, AJ; Mamotte, CD; Williams, RA | 1 |
| Akhmadeeva, ÉN; Alimova, IL; Bazhenova, IuL; Borovik, TÉ; Bushueva, TV; Filimonova, MN; Garifullina, ÉR; Kostiakova, EA; Kovtun, OP; Kuzenkova, LM; Mardanova, AK; Minaĭcheva, LI; Nazarenko, LP; Pichkur, NA; Rozenson, OL; Saliukova, OA; Samonenko, NV; Seitova, GN; Shkurko, TA; Sivokha, VM | 1 |
| Cliff, MA; Kermode, AR; Law, JR; Lücker, J; Scaman, CH | 1 |
| Deon, M; Lamberty, JF; Landgraf, SS; Moura, DJ; Saffi, J; Vargas, CR; Wajner, M | 1 |
| Bayat, A; Lund, AM; Møller, LB | 1 |
| Singh, RH; Yi, SH | 1 |
| Arnold, GL; Cohen-Pfeffer, JL; Enns, GM; Ficicioglu, C; Longo, N; Parker, S; Pridjian, G | 1 |
| Alonso, E; Contreras, J; Fuentes, LE | 1 |
| Bélanger-Quintana, A; Blau, N; Feillet, F; Lichtenberger, O; Munafo, A; Muntau, AC; Trefz, F; van Spronsen, F | 1 |
| Andria, G; Bonapace, G; Capaldo, B; Concolino, D; Daniele, A; Della Casa, R; Nastasi, A; Paladino, S; Parenti, G; Ruoppolo, M; Scala, I; Strisciuglio, P; Ungaro, C | 1 |
| Merrin, M; Somaraju, UR | 3 |
| Aguiar, A; Ahring, K; Almeida, MF; Assoun, M; Belanger Quintana, A; Bigot, S; Bihet, G; Blom Malmberg, K; Burlina, A; Bushueva, T; Caris, A; Chan, H; Clark, A; Clark, S; Cochrane, B; Corthouts, K; Dalmau, J; Dassy, M; De Meyer, A; Didycz, B; Diels, M; Dokupil, K; Dubois, S; Eftring, K; Ekengren, J; Ellerton, C; Evans, S; Faria, A; Fischer, A; Ford, S; Freisinger, P; Giżewska, M; Gokmen-Ozel, H; Gribben, J; Gunden, F; Heddrich-Ellerbrok, M; Heiber, S; Heidenborg, C; Jankowski, C; Janssen-Regelink, R; Joerg-Streller, M; Jones, I; Jonkers, C; Kaalund-Hansen, K; Kiss, E; Lammardo, AM; Lang, K; Lier, D; Lilje, R; Lowry, S; Luyten, K; MacDonald, A; Meyer, U; Moor, D; Pal, A; Robert, M; Robertson, L; Rocha, JC; Rohde, C; Ross, K; Saruhan, S; Sjöqvist, E; Skeath, R; Stoelen, L; Ter Horst, NM; Terry, A; Timmer, C; Tuncer, N; van der Ploeg, L; van Rijn, M; van Spronsen, FJ; van Teeffelen-Heithoff, A; van Wegberg, A; van Wyk, K; Vande Kerckhove, K; Vasconcelos, C; Vitoria, I; Webster, D; White, FJ; Wildgoose, J; Zweers, H | 1 |
| Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Llarena, M; Peña-Quintana, L; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I | 1 |
| Bannick, AA; Edwards, HL; Feldman, GL; Laufman, JD; Ventimiglia, J | 1 |
| Besson, G; Corne, C; Papassin, J; Pierunek, J | 1 |
| Boutin, M; Kim, J | 1 |
| Bafunno, V; D'Andrea, G; De Girolamo, G; Dimatteo, C; Leccese, A; Lillo, V; Longo, V; Margaglione, M; Papadia, F; Santacroce, R; Trunzo, R | 1 |
| Cruz, NF; Dienel, GA | 1 |
| Adachi, O; Castañeda, MT; Hours, RA | 1 |
| Arslan, N; Çakar, S; Gündüz, M; Kuyum, P; Makay, B | 1 |
| Berillo, L; Caputi, C; Carducci, C; Chiarotti, F; Di Biasi, C; Leuzzi, V; Manti, F; Mastrangelo, M; Nardecchia, F | 1 |
| Bélanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coşkun, T; Feillet, F; Giżewska, M; MacDonald, A; Muntau, AC; Trefz, FK; van Spronsen, FJ | 1 |
| Coitinho, AS; Deon, M; Donida, B; Faverzani, JL; Guerreiro, GB; Marchetti, DP; Mescka, CP; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Ahring, K; Almeida, MF; Belanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coskum, T; Dokoupil, K; Evans, S; Feillet, F; Giżewska, M; Gokmen Ozel, H; Kamieńska, E; Lammardo, AM; Lotz-Havla, AS; MacDonald, A; Maillot, F; Muntau, AC; Puchwein-Schwepcke, A; Robert, M; Rocha, JC; Santra, S; Skeath, R; Strączek, K; Trefz, FK; van Dam, E; van Rijn, M; van Spronsen, F; Vijay, S | 1 |
| Adler-Abramovich, L; Brocca, P; Cantù, L; Colombo, L; De Luigi, A; De Paola, M; Del Favero, E; Gazit, E; Mariani, A; Re Depaolini, A; Rondelli, V; Russo, L; Salmona, M | 1 |
| Bortoluzzi, VT; Bristot, IJ; Costa, BM; de Franceschi, ID; Dutra-Filho, CS; Fernandes, EK; Moreira, JC; Preissler, T; Rieger, E; Wannmacher, CM | 1 |
| Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen Ozel, H; Heidenborg, C; Lammardo, AM; MacDonald, A; Robert, M; Rocha, JC; van Dam, E; van Rijn, M | 1 |
| Bruinenberg, VM; de Blaauw, P; Heiner-Fokkema, MR; Kema, IP; Mazzola, PN; van Anholt, RD; van der Zee, EA; van Faassen, MH; van Spronsen, FJ; van Vliet, D | 1 |
| Harding, CO; Scherer, T; Thöny, B; Winn, SR | 1 |
| Banderali, G; Cefalo, G; Giovannini, M; Lassandro, C; Moretti, F; Radaelli, G; Salvatici, E; Verduci, E | 1 |
| Biery, A; Dobrowolski, SF; Lyons-Weiler, J; Skvorak, K; Spridik, K; Vockley, J | 1 |
| Borovik, TE; Bushueva, TV; Gevorkyan, AK; Kuzenkova, LM; Ladodo, KS; Maslova, OI | 1 |
| Battelino, T; Groselj, U; Kelvisar, M; Kobe, H; Lampret, BR; Tansek, MZ | 1 |
| Bodner, KE; Christ, SE; Moffitt, AJ; Peck, D; Price, MH; Saville, C | 1 |
| Abdi, M; Amini, S; Andalibi, P; Ardalan, A; Fathollahpour, A; Hajir, MS; Hakhamaneshi, MS; Tavana, S | 1 |
| Rune, GM; Santer, R; Schlegel, G; Scholz, R; Ullrich, K | 1 |
| Attali, A; Bruinenberg, VM; de Wilde, MC; Kuhn, M; van der Zee, EA; van Spronsen, FJ; van Vliet, D | 1 |
| Ahring, K; Bélanger-Quintana, A; de Almeida, MF; Dokoupil, K; Gokmen-Ozel, H; Lammardo, AM; MacDonald, A; Pena, MJ; Robert, M; Rocha, JC; van Dam, E | 1 |
| Juhász, E; Kiss, E; Patócs, A; Reismann, P; Simonova, E | 1 |
| Cunningham, AC; Douglas, TD; Frazier, DM; Hook, DG; Jeffers, L; McCune, H; Mofidi, S; Moseley, KD; Ogata, B; Pendyal, S; Rohr, F; Singh, RH; Skrabal, J; Splett, PL; Stembridge, A; Wessel, A | 1 |
| Banerjee, P; Banik, D; Dutta, R; Kundu, S; Sarkar, N | 2 |
| Clayton, MK; Levy, HL; Murali, SG; Ney, DM; Rice, GM; Rohr, F; Stroup, BM | 1 |
| Azen, C; Fu, X; Moseley, K; Yano, S | 1 |
| Bonapace, G; Concolino, D; Ferrara, C; Mascaro, I; Matalon, K; Matalon, R; Moricca, MT; Radhakrishnan, G; Strisciuglio, P; Trapasso, J | 1 |
| Bruinenberg, VM; de Blaauw, P; Heiner-Fokkema, MR; Kema, IP; Mazzola, PN; Pascucci, T; Puglisi-Allegra, S; van der Zee, EA; van Faassen, MH; van Spronsen, FJ; van Vliet, D | 1 |
| Chang, S; Chong, SC; Hui, J; Law, LK; Lee, LK; Yau, P; Yuen, YP | 1 |
| Arning, E; Bottiglieri, T; Gibson, KM; Vogel, KR | 1 |
| Arce, CA; Bisig, CG; Dentesano, YM; Ditamo, Y; Purro, SA | 1 |
| Coşkun, T; Dursun, A; Sivri, HS; Tokatlı, A; Yıldız, Y | 1 |
| Geberhiwot, T; Hall, SK; Limback, E; MacDonald, A; Palermo, L; Romani, C | 2 |
| Banderali, G; Giovannini, M; Moretti, F; Pellegrini, N; Radaelli, G; Rovelli, V; Salvatici, E; Scazzina, F; Verduci, E | 1 |
| Ahring, K; Bélanger-Quintana, A; Blau, N; Bosch, AM; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, SC; Kearney, S; Leuzzi, V; MacDonald, A; Maillot, F; Muntau, AC; Trefz, FK; van Rijn, M; van Spronsen, FJ; van Wegberg, AM; Walter, JH | 1 |
| Chahal, S; Daly, A; Evans, S; MacDonald, A; Santra, S | 1 |
| Anikster, Y; Ben-Zeev, B; Benoist, JF; Berutti, R; Blau, N; Bruggmann, R; Cremer, K; Dorboz, I; Engels, H; Gahl, WA; Gemperle-Britschgi, C; Guarani, V; Haack, TB; Harper, JW; Heimer, G; Hoffmann, GF; Huttlin, EL; Imbard, A; Keller, I; Landau, Y; Malicdan, MCV; Marek-Yagel, D; Martinez, A; Mayatepek, E; Meili, D; Meissner, T; Meitinger, T; Mullikin, JC; Opladen, T; Paulo, JA; Pode-Shakked, B; Prokisch, H; Schiff, M; Schwartz, G; Shen, N; Strom, TM; Thöny, B; Trefz, FK; Vilboux, T; Ziv-Strasser, L | 1 |
| Cederbaum, S; Cohen-Pfeffer, JL; Jurecki, ER; Kopesky, J; Perry, K; Rohr, F; Sanchez-Valle, A; Sheinin, MY; Viau, KS | 1 |
| Bal, MO; Burlina, A; Cleary, M; De Laet, C; Eyskens, F; Freisinger, P; Gramer, G; Leuzzi, V; Lotz-Havla, AS; Moreau-Stucker, F; Mould, DR; Munafo, A; Muntau, AC; Pazdírková, R; Rogoff, D; Rutsch, F; Sivri, HS; Vijay, S | 1 |
| Danecka, MK; Gersting, SW; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Sommerhoff, CP; Staudigl, M | 1 |
| Coskun, T; Dursun, A; Koksal, G; Kucukkasap, T; Ozel, HG; Sivri, HS; Tokatli, A | 1 |
| Burgard, P; van Spronsen, FJ | 1 |
| Asplin, D; Chakrapani, A; Daly, A; Davies, P; Hall, SK; Hendriksz, C; Hopkins, V; Macdonald, A | 1 |
| Freudlsperger, C; Kaltschmidt, C; Kompisch, K; Lorke, DE; Lukacs, Z; Müller, R; Rudolph, T; Santer, R; Schulz, D; Schumacher, U; Ullrich, K | 1 |
| Durham-Shearer, SJ; Judd, PA; Thomas, JE; Whelan, K | 1 |
| Singh, RH; Yi, S | 1 |
| Ferracini, R; Gorassini, E; Mussa, A; Porta, F; Repici, M; Roato, I; Spada, M | 1 |
| Bakker, HD; Boers, GH; Brinksma, A; Carbasius-Weber, E; de Klerk, JB; de Koning, TJ; de Valk, HW; Douwes, AC; Jansma, J; Rubio-Gozalbo, ME; Sels, JP; Sengers, RC; Ter Horst, NM; Termeulen, H; van den Herberg, A; van den Ploeg, L; van Rijn, M; van Spronsen, FJ; Zweers, H | 1 |
| Bebchuk, J; Burton, BK; Christ-Schmidt, H; Crombez, E; Dorenbaum, A; Giovannini, M; Lee, P; Morris, AA; Seashore, M; Treacy, EP; Waber, L; Wasserstein, M; Wendel, U; Wolff, J | 1 |
| Chakrapani, A; Daly, A; Davies, P; Gokmen Ozel, H; Hendriksz, C; Lee, P; Lilburn, M; MacDonald, A; Preece, MA | 1 |
| Kiener, C; Knerr, I; Meier, N; Rascher, W; Rauh, M; Schmid, P; Weigel, C | 1 |
| Amilkiewicz, J; Bik-Multanowski, M; Bilar, A; Chrobot, A; Cichy, W; Didycz, B; Gizewska, M; Kaluzny, L; Lange, A; Milanowski, A; Mozrzymas, R; Nowacka, M; Schneiberg, B; Starostecka, E; Wojcicka-Bartlomiejczyk, BI | 1 |
| Clarke, L; Dorenbaum, A; Feillet, F; Foehr, E; Giovannini, M; Green, B; Harmatz, P; Lipson, M; Meli, C; Morris, AA; Mould, DR | 1 |
| Desviat, LR; Mitchell, SC; Pérez, B; Steventon, GB; Ugarte, M | 1 |
| Albrecht, J; Burgard, P; Garbade, SF | 1 |
| Amos, A; Fitzgerald, B; Hoskin, R; Johnson, SM; Lee, P; Lilburn, M; Murphy, GH; Robertson, L; Weetch, E | 1 |
| Blau, N; Burlina, A | 1 |
| Darvish, M; Ebrahimi, SA; Ghadam, P | 1 |
| Bell, SM; Charbonneau, M; Fitzpatrick, P; Gámez, A; Henschell, C; Lambert, A; Lemontt, JF; Sarkissian, CN; Scriver, CR; Stevens, RC; Tsuruda, L; Vellard, M; Wang, L; Zhao, B | 1 |
| Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW; Zhou, JD | 1 |
| Bosch, AM; de Klerk, JB; de Koning, T; de Vries, M; Dorgelo, B; Hoeksma, M; Mulder, MF; Rubio-Gozalbo, ME; van Rijn, M; van Spronsen, FJ; Verkerk, PH | 1 |
| Arteaga, AL; Castells, E; del Río, L; Frómeta, A; García, SM; González, EC; Licourt, T; Martínez, L; Robaina, MS | 1 |
| Hoeksma, M; Reijngoud, DJ; van Spronsen, FJ | 1 |
| de Valk, HW; Hoeksma, M; Paans, AM; Pruim, J; Reijngoud, DJ; van Spronsen, FJ | 1 |
| Amos, A; Fitzgerald, B; Hoskin, R; Lee, PJ; Lilburn, M; Murphy, G; Robertson, L; Weetch, E | 1 |
| Araujo, GC; Christ, SE; Grange, DK; McKinstry, RC; Nardos, B; Steiner, RD; White, DA | 1 |
| Beblo, S; Demmelmair, H; Hanebutt, FL; Koletzko, B | 1 |
| McGill, J; Sharman, R; Sullivan, K; Young, R | 2 |
| Clayton, MK; Etzel, MR; Gleason, ST; MacLeod, EL; Ney, DM; van Calcar, SC; Wolff, JA | 1 |
| Lehnen, H; Pascheberg, U; Schwennicke, C; Vinke, M | 1 |
| Bebchuk, J; Burton, BK; Casanova, MM; Christ-Schmidt, H; Crombez, EA; Dorenbaum, A; Grange, DK; Gruskin, DJ; Harmatz, P; Hennermann, JB; Kakkis, ED; Lipson, MH; Longo, N; Milanowski, A; Randolph, LM; Trefz, FK; Vockley, J; Whitley, CB; Wolff, JA | 1 |
| Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E | 1 |
| Keating, GM; Sanford, M | 1 |
| Boesch, C; Kreis, R; Nuoffer, JM; Zwygart, K | 1 |
| Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen Ozel, H; Lammardo, AM; MacDonald, A; Motzfeldt, K; Nowacka, M; Robert, M; van Rijn, M | 1 |
| Barden, AT; Barschak, AG; Biancini, GB; de Souza, CF; Deon, M; Netto, C; Sitta, A; Vargas, CR; Vargas, PR; Wajner, M | 1 |
| Borski, K; Dobrowolski, SF; Ellingson, CC; Koch, R; Levy, HL; Naylor, EW | 1 |
| van Spronsen, F | 1 |
| Bik-Multanowski, M; Pietrzyk, JJ | 5 |
| Didycz, B; Lemańska, D; Słuszniak, A | 1 |
| Burgard, P; Garbade, SF; Gramer, G; Lindner, M | 1 |
| Hong, SP; Jeong, JS; Lee, DH; Lee, YM; Sim, HJ; Yoon, HR | 1 |
| Bouchlariotou, S; Maroulis, G; Tsikouras, P | 1 |
| Gunasekera, RS; Hyland, K | 1 |
| Hong, W; Shen, M; Wang, KD; Yu, WM; Zhou, ZS | 1 |
| Mussa, A; Ponzone, A; Porta, F | 1 |
| Burgard, P; Langenbeck, U; Lindner, M; Wendel, U; Zschocke, J | 1 |
| Hegge, K; Hegge, KA; Horning, KK; Peitz, GJ | 1 |
| Andolina, D; Cabib, S; Conversi, D; Latagliata, C; Mela, IL; Pascucci, T; Puglisi-Allegra, S; Ventura, R | 1 |
| Qin, YF; Zhan, JY; Zhao, ZY | 1 |
| Askerova, TA; Guseĭnli, IaS | 1 |
| Chakrapani, A; Daly, A; Gokmen-Ozel, H; Hall, K; MacDonald, A; Ryder, L | 1 |
| Gleason, ST; MacLeod, EL; Ney, DM; van Calcar, SC | 1 |
| Amaral, AU; Dutra Filho, CS; Fernandes, CG; Leipnitz, G; Seminotti, B; Vargas, CR; Wajner, M; Zanatta, A | 1 |
| Bélanger-Quintana, A; Blau, N; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, FK; van Spronsen, F | 1 |
| Jamroz, E; Marszał, E; Paprocka, J; Wiktor, M | 1 |
| Baerwald, CG; Stepan, H; Unger, S; Weigel, JF | 1 |
| Alluto, A; Ferraris, S; Mussa, A; Ponzone, A; Porta, F; Spada, M | 1 |
| Choi, JO; Jung, SC; Lee, MH; Park, HY; Park, JW | 1 |
| Cindas, A; Ilgun, E; Koyuncuoglu, H; Soyupek, F; Tak, R | 1 |
| Güttler, F; Nielsen, JB; Nielsen, KE | 1 |
| Harada, N; Ohira, T; Watanabe, Y; Yoshino, M | 1 |
| Poustie, VJ; Wildgoose, J | 1 |
| Gu, X; Li, D; Liang, L; Lu, L | 1 |
| de Sonneville, LM; Huijbregts, SC; Licht, R; Sergeant, JA; van Spronsen, FJ; Verkerk, PH | 2 |
| Christ, SE; de Sonneville, LM; Huijbregts, SC; White, DA | 1 |
| Burton, B; Feillet, F; Hartung Perron, D; MacDonald, A | 1 |
| Enns, GM; van Spronsen, FJ | 1 |
| Feldmann, R; Möller, HE; Weglage, J | 1 |
| Aigrot, MS; Belachew, S; Bours, V; Hong, P; Josse, C; Lubetzki, C; Marée, R; Schoemans, R; Wu, C | 1 |
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| Frauendienst-Egger, G; Scheible, D; Trefz, FK | 1 |
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| Blau, N; Giugliani, R; Nalin, T; Perry, ID; Saraiva-Pereira, ML; Schwartz, IV; Sitta, A; Vargas, CR | 1 |
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| Coelho, JG; Dalazen, GR; Dutra-Filho, CS; Jacques, CE; Moraes, TB; Rosa, AP; Terra, M | 1 |
| Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen Ozel, H; Lammardo, AM; MacDonald, A; Motzfeldt, K; Robert, M; Rocha, JC; van Rijn, M | 1 |
| Heldt, K; Schmidt, LE; Spiekerkoetter, U; Thimm, E | 1 |
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| Karikas, GA; Michelakakis, H; Schulpis, KH; Tjamouranis, J; Tsakiris, S | 1 |
| Kohlschütter, A; Lindner, M; Lukacs, Z; Steinfeld, R; Ullrich, K; Zschocke, J | 1 |
| Arnold, GL; Blakely, EM; Deluca, JM; Kirby, RS; Vladutiu, CJ | 1 |
| Agostoni, C; Biondi, ML; Fiori, L; Giovannini, M; Lammardo, AM; Leviti, S; Riva, E; Verduci, E | 1 |
| Boesch, C; Burgard, P; Kreis, R; Pietz, J; Rupp, A | 1 |
| Andriolo, M; Calì, F; McDonald, JD; Mirisola, M; Puglisi-Allegra, S; Romano, V; Sarkissian, CN; Smith, CB | 1 |
| Green, A; Hall, K; Leeming, R; Lucock, M; MacDonald, A; Rylance, G; Yates, Z | 1 |
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| Bührdel, P; Ceglarek, U; Kiess, W; Müller, P; Stach, B; Thiery, J | 1 |
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| Aldamiz, L; Boehm, G; Georgi, G; Jelinek, J; Ruiz, JI; Sanjurjo, P | 1 |
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| de Sonneville, L; Huijbregts, S; Licht, R; Sergeant, J; van Spronsen, F | 1 |
| Denecke, J; Feldmann, R; Koch, HG; Möller, HE; Ullrich, K; Weglage, J; Wiedermann, D | 1 |
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| DRISCOLL, KW; HSIA, DY; KNOX, WE; TROLL, W | 1 |
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| HORNER, FA; STREAMER, CW | 1 |
| BAIRD, H; BALDRIDGE, RC; BOROFSKY, L; BULLOCK, D; REICHLE, F | 1 |
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| ANDERSON, JA; ERTEL, R; FISCH, R; GRAVEM, H; McCARTHY, J | 1 |
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| BARNESS, LA; MELLMAN, WJ; NOCHO, R; TEDESCO, T; YOUNG, DG | 1 |
| KRUPANIDHI, I; PUNEKAR, BD | 1 |
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| BOGGS, DE; KAPPY, M; MCLAY, D; WAISMAN, HA | 1 |
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| HANSEN, S; HESTRIN, M; PERRY, TL; TISCHLER, B | 1 |
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| Fünders, B; Hahn-Ullrich, H; Koch, HG; Pietsch, M; Schuierer, G; Ullrich, K; Weglage, J | 1 |
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| Boesch, C; Herschkowitz, N; Kreis, R; Penzien, J; Pietz, J; Rating, D | 1 |
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| Barnes, PD; Levy, HL; Lobbregt, D; Poussaint, TY | 1 |
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| Koch, HG; Marquardt, T; van Teefelen-Heithoff, A; Weglage, J; Zass, R; Zschocke, J | 1 |
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| Constantopoulos, A; Michelakakis, H; Papakonstantinou, E; Papandreou, U; Schulpis, KH; Theodoridis, T | 1 |
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| Levy, PA; Miller, JB; Shapira, E | 1 |
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| Austin, V; Clarke, JT; Hanley, WB; Klim, P; Lehotay, DC; Schoonheyt, W; Smith, ML | 1 |
| Asplin, D; Booth, IW; Hall, SK; MacDonald, A; Rylance, GW | 1 |
| Möller, H; Ullrich, K; Weglage, J; Wiedermann, D | 1 |
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| Asada, M; Isshiki, G; Sawada, Y; Shintaku, H | 1 |
| Leandro, P; Lechner, MC; Lichter-Konecki, U; Rivera, I; Tavares de Almeida, I | 1 |
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| Berger, R; Heymans, HS; Nagel, GT; Reijngoud, DJ; Smit, GP; Stellaard, F; van Spronsen, FJ | 1 |
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| Cotton, RG; Goodwill, KE; House, CM; Jennings, IG; Kemp, BE; Kobe, B; Michell, BJ; Santarsiero, BD; Stevens, RC | 1 |
| Guldberg, P; Guttler, F; Koch, R; Moseley, K; Ning, J; Romstad, A | 1 |
| Cambra, FJ; Campistol, J; Lambruschini, N; Mallolas, J; Milà, M; Vilaseca, MA | 1 |
| Allen, KR; Degg, TJ; Henderson, MJ; Rushworth, PA; Smith, M | 1 |
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| Bal, J; Cabalska, B; Filipowicz, J; Gizewska, M; Nowacka, M; Zekanowski, C | 1 |
| Koch, RK | 1 |
| Artuch, R; Cambra, FJ; Campistol, J; Lambruschini, N; Moreno, J; Vilaseca, MA | 1 |
| Cho, S; de La Cruz, F; Seashore, MR; Wappner, R | 1 |
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| Azen, C; de la Cruz, F; Hanley, W; Koch, R; Levy, H; Matalon, R; Rouse, B; Trefz, F | 1 |
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| de Sonneville, LM; de Valk, HW; Duran, M; Erkelens, DW; Poll-The, BT | 1 |
| Baldellou Vázquez, A; Ruiz-Echarri Zalaya, MP; Salazar García-Blanco, MI | 1 |
| Henderson, RM; Herbert, AM; McCulloch, DL; Robinson, PH; Taylor, MJ | 1 |
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| Davidson, DC; Demellweek, C; Fay, N; Griffiths, PV; Robinson, PH | 1 |
| Dalrymple-Smith, J; Fitzgerald, B; Hodgson, A; Keene, N; Morgan, J; Rollinson, R | 1 |
| Green, A; Hall, SK; Robinson, P | 1 |
| Clarke, JT; Feigenbaum, A; Hanley, WB; Klim, P; Saltzman, J; Smith, ML | 1 |
| Boulais, DM; McDonald, JD; Sarkissian, CN; Scriver, CR | 1 |
| Almeida, M; Cabral, A; Carmona, C; de Almeida, IT; Eusébio, F; Konecki, DS; Leandro, P; Lechner, MC; Lichter-Konecki, U; Martins, E; Rivera, I; Tasso, T; Vilarinho, L | 1 |
| Carreras, AL; da Rocha, BB; de Mattos-Dutra, A; Meirelles, R; Pessoa-Pureur, R; Wannmacher, CM | 1 |
| Paul, D | 1 |
| Abadie, V; Azar, Z; Bah, G; Bonnet, D; Fraisse, A; Kachaner, J; Martin, D; Saliba, Z; Sidi, D | 1 |
| Austin, VJ; Clarke, JT; Hanley, AJ; Hanley, WB; Lee, AW; Lehotay, DC; Platt, BA; Schoonheyt, WE | 1 |
| Antonozzi, I; Carducci, C; Cerquiglini, A; Leuzzi, V; Seri, S | 1 |
| Alliaudi, C; Biasucci, G; Blau, N; Cerone, R; Coskun, T; de Sanctis, L; Dianzani, I; Farrugia, R; Meli, C; Ponzone, A; Spada, M; Zammarchi, E | 1 |
| Elsas, LJ; Guerrero, NV; Kable, JA; Singh, RH; Sullivan, KM | 1 |
| Carvalho, TS; da Silva, FB; da Silva, LC; Giugliani, R; Pereira, ML; Pires, RF | 1 |
| Denecke, J; Feldmann, R; Grenzebach, M; Koch, HG; Linnenbank, R; Pietsch, M; Weglage, J | 1 |
| Cali, F; Coşkun, T; Kalkanoğlu, HS; Ozalp, I; Ozgüç, M; Roman, V; Tokatli, A; Yilmaz, E | 1 |
| Daikhin, E; Dyer, CA; Jean-Guillaume, D; Kendler, A; Nguyen, LB; Shefer, S; Tint, GS; Yudkoff, M | 1 |
| Papakonstantinou, ED; Schulpis, KH; Tzamouranis, J | 1 |
| Antonozzi, I; Bianchi, MC; Carducci, CA; Carducci, CL; Leuzzi, V; Tosetti, M | 1 |
| Burgard, P; Schweitzer-Krantz, S | 1 |
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| Knowles, J; Smith, I | 1 |
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| Möller, HE; Ullrich, K; Weglage, J | 1 |
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| Cipcic-Schmidt, S; Koch, R; Trefz, FK | 1 |
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| Guldberg, P; Guttler, F; Koch, R; Moats, R; Nelson, M | 1 |
| Güttler, F; Koch, R | 1 |
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| Borges, LF; Dutra-Filho, CS; Edom, PT; Noriler, ME; Parolo, E; Pontes, ZL; Streck, EL; Wannmacher, CM; Wyse, AT | 1 |
| Bedin, M; Duarte, DV; Dutra-Filho, CS; Estrella, CH; Ponzi, D; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Cunningham, G; Currier, RJ; Eastman, JW; Liao, CL; Lorey, F; Sherwin, JE; Wong, R | 1 |
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| Haefele, MJ; McDonald, JD; White, G | 1 |
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| Denecke, J; Feldmann, R; Harms, E; Koch, GH; Schlegel, W; Weglage, J | 1 |
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| Burgard, P; Link, R; Schweitzer-Krantz, S | 1 |
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| Huszagh, VA; Infante, JP | 1 |
| Denecke, J; Feldmann, R; Guldberg, P; Güttler, F; Harms, E; Hoffmann, G; Koch, HG; Möller, H; Muntau-Heger, A; Pietsch, M; Ullrich, K; Weglage, J; Wendel, U; Zschocke, J | 1 |
| Koch, R; Smit, PG; van Spronsen, FJ | 1 |
| Boesch, C; Kreis, R; Pietz, J; Rating, D; Rupp, A; Slotboom, J; Zschocke, J | 1 |
| Burgard, P; Haas, D; Lindner, M; Mayatepek, E; Zschocke, J | 1 |
| Aulela-Scholz, C; Blau, N; Trefz, FK | 1 |
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| Erlandsen, H; Stevens, RC | 1 |
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| Acosta, AX; Gjetting, T; Guldberg, P; Güttler, F; Haavik, J; Knappskog, PM; Romstad, A; Silva, WA; Zago, MA | 1 |
| Artuch, R; Cambra, FJ; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA | 1 |
| Artuch, R; Cambra, FJ; Campistol, J; Colomé, C; Lambruschini, N; Vilaseca, M | 1 |
| Blau, N; Bonafé, L; Burlina, AB; Burlina, AP; Güttler, F; Romstad, A | 1 |
| Cleary, M; Walter, JH | 1 |
| Denecke, J; Feldmann, R; Harms, E; Koch, HG; Möller, HE; Ullrich, K; Weglage, J; Wiedermann, D | 1 |
| Sullivan, JE | 1 |
| Cheng-LNing, Z; Weiming, Y; Yukio, F; Zhixing, W; Zhongshu, Z | 1 |
| Battastini, AM; Berti, SL; Bonan, CD; da Silva, FL; Sarkis, JJ; Wannmacher, CM | 1 |
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| Hoffmann, GF; Mayatepek, E; Schulze, A | 1 |
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| Artuch, R; Brandi, N; Cambra, FJ; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA | 1 |
| Aykin-Burns, N; Ercal, N; Gurer-Orhan, H; McDonald, JD | 1 |
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| Bridi, R; Dutra-Filho, CS; Kienzle Hagen, ME; Pederzolli, CD; Sgaravatti, AM; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Koch, R; Moseley, K; Moser, AB | 1 |
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| Denecke, J; Feldmann, R; Grenzebach, M; Pietsch, M; Weglage, J | 1 |
| Landolt, MA; Nuoffer, JM; Steinmann, B; Superti-Furga, A | 1 |
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| Bergner, KG; Hahn, H | 1 |
| Brissaud, HE; Costil, J; Richardet, JM | 1 |
| Forsum, E; Hambraeus, L | 1 |
| Brown, VH; DeGraw, JI; Le Valley, S; Skinner, WA | 1 |
| Brase, DA; Westfall, TC | 1 |
| Berman, JL; Blumenfeld, CM; Pildes, RS | 1 |
| Heller-Schöch, G; Neth, R; Winkler, K | 1 |
| Cockburn, F; Farquhar, JW; Forfar, JO; Giles, M; Robins, SP | 1 |
| Ballester, L; Callens, G; Callens, M; Duquennoy, C; Gaudier, B; Ponté, C | 1 |
| Dolezal, A; Hoza, J; Hyánek, J; Rejmanová, E; Seemanová, E; Vinsová, N | 1 |
| Carnevale, F; Di Bitonto, G; Penza, R | 1 |
| Duffield, AM; Halpern, B; Pereira, WE; Solomon, MD; Steed, E | 1 |
| Oldendorf, WH; Silverstein, A; Sisson, BW | 1 |
| Smith, BA; Waisman, HA | 1 |
| Brodehl, J; Hensen, SB; Schröder, MR; Shinoda, M; Weber, HP | 1 |
| Howell, RR; Parmley, TH; Stevenson, RE; Thomas, GH | 1 |
| Clayton, BE | 2 |
| Costantini, ML; Grümer, HD; Hetland, LB | 1 |
| Gero, T; Gosse, GD; Hanley, WB; Jackson, SH | 1 |
| Berry, HK; Hunt, MM; Sutherland, BS | 1 |
| Sláma, J; Zelníćek, E | 1 |
| Carson, NA | 2 |
| Davis, LR | 1 |
| Curtius, HC; Gitzelmann, R; Rampini, S | 1 |
| Bellati, R; Berio, A; Di Stefano, A; Viglione, M | 1 |
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| Ballhorn, HB; Dumas, M; Myers, HM | 1 |
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| Berman, JL; Hsia, DY; Justice, P | 1 |
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| O'Halloran, MT; Stuckey, SJ; Yu, JS | 2 |
| Carver, MJ; Copenhaver, JH; Schain, RJ | 1 |
| Van der Hoeven, T; Woolley, DW | 1 |
| Boisse, J | 1 |
| Allen, RJ; Terr, AI; Vanselow, NA | 1 |
| Belzecka, K | 1 |
| Hsia, DY; O'Flynn, ME | 1 |
| Rincic, MM; Rogers, PJ | 1 |
| Brandt, IK; Castells, S; Grunt, JA | 1 |
| Kennedy, R | 1 |
| Güttler, F; Olesen, ES; Wamberg, E | 1 |
| Culley, PD | 1 |
| Guthrie, R | 1 |
| Aviad, Y; Berman, W; Cohen, BE; Crispin, M; Goland, R; Hirshorn, N; Szeinberg, A | 1 |
| Beyreiss, K; Theile, H; Willgerodt, H | 1 |
| Close, VA; Halpern, B; Jellum, E; Patton, W; Pereira, W | 1 |
| Anke, A; Knapp, A; Schwenke, W | 1 |
| Adriaenssens, K; Allen, RJ; Lowenthal, A; Mardens, Y; Tourtellotte, WW | 1 |
| Martin, PR; Watt, DD | 1 |
| Cabalska, B; Duczyńska, N; Wnuk, W | 1 |
| Kirsig, HJ; Maisch, H | 1 |
| Gerald, PS; Kang, ES; Kaufman, S | 1 |
| Holton, JB; Small, NA | 1 |
| Ervin, EN | 1 |
| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B | 1 |
| Houghton, SA; Karolkewicz, V; Levy, HL; MacCready, RA | 1 |
| Howell, RR | 1 |
| Kang, ES; Knox, WE | 1 |
| Brodehl, J; Gellissen, K; Kaas, WP | 1 |
| Babin, JP; Hehunstre, JP; Marc, Y; Martin, C; Navarro, C; San Juan, B | 1 |
| Arthur, LJ; Hulme, JD | 1 |
| Blau, K; Cameron, HH; Summer, GK | 1 |
| Berry, HK; O'Grady, DJ; Sutherland, BS | 1 |
| Berman, JL | 1 |
| Duguid, R | 1 |
| Komrower, GM | 1 |
| Hudson, FP; Leahy, I; Mordaunt, VL | 1 |
| Mrskos, A; Podhradská, O | 1 |
| Foust, M; Lonsdale, D | 1 |
| Konno, T; Mochizuki, K; Nakagawa, H; Tada, K; Yoshida, T | 1 |
| Acosta, PB; Fishler, K; Koch, R; Schaeffler, G; Shaw, KN; Wenz, E; Wohlers, A | 1 |
| Kahn, LI | 1 |
| Davidson, W; Hanley, WB; Linsao, L; Moes, CA | 1 |
| Calcedo Ordóñez, A; Fornell Forcades, J | 1 |
| Clayton, BE; Heeley, AF; Heeley, M | 1 |
| Aoki, K; Siegel, FL | 1 |
| Geison, RL; Waisman, HA | 1 |
| Agrawal, HC; Bone, AH; Davison, AN | 1 |
| Mitoma, C; Pryor, GT | 1 |
| Schmidt, H | 1 |
| Van Sande, M | 1 |
| Blehová, B; Maurerov0a, D; Pazoutová, N; Vamberová, M; Zidlický, A | 1 |
| Boisse, J; Brissaud, H; Lemonnier, A; Mozziconacci, P | 1 |
| Holton, JB; West, PM | 1 |
| Gerald, PS; Kang, ES; Sollee, ND | 1 |
| Berman, JL; Ford, R | 1 |
| Narayanan, HS; Nataraj, CL; Rao, BS | 1 |
| Humbel, R; Kutter, D; Metz, H | 1 |
| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC | 1 |
| Dévényi, T | 1 |
| Loidolt, M; Mönch, E | 1 |
| Brodehl, J; Gellissen, K | 1 |
| Hagge, W; Irtel von Brenndorff, A | 2 |
| Lessey, R; Luse, SA; Rhys, A | 1 |
| Berry, H; Butcher, R; Vorhees, C | 1 |
| Bory, P; Jakubovic, A; Woolf, F; Woolf, LI | 1 |
| McKean, CM; Peterson, NA; Shah, SN | 1 |
| Oldendorf, WH; Sisson, WB | 1 |
| Geller, E; Yuwiler, A | 1 |
| Hambraeus, L; Lorentsson, R; Wranne, L | 1 |
| Holtzman, NA; Menkes, JH | 2 |
| Ware, AG; Wilson, MG; Wu, PY | 1 |
| Dobson, J; Hsia, DY; Koch, R; Woolf, LI | 1 |
| Borud, L; Fisch, RO; Solberg, JA | 1 |
| Howell, RR; Vavich, JM | 1 |
| Danks, DM | 1 |
| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P; Saudubray, JM | 1 |
| Boisse, J; Cathy, T; Mozziconacci, P; Saudubray, JM | 1 |
| Fuller, R; Shuman, J | 1 |
| Hoza, J; Hyánek, J; Mrastíková, H; Sádlová, I; Seemanová, E; Wünschová, N; Zelingerová, J | 1 |
| Baker, EC; Friedman, CJ; Sibinga, MS; Steisel, IM | 1 |
| Carr, JR; Cass, V; French, WA; Karolkewicz, V; Kennedy, JL; Levy, HL; MacCready, RA; Shih, VE | 1 |
| Berman, JL; Hsia, DY; O'Flynn, ME; Partington, MW; Vickery, SK; Wong, PW | 1 |
| François, R; Later, R; Mamelle, JC; Mamelle, N; Masson, E; Moreau, P; Quincy, C; Site, J | 1 |
| Coutts, NA; Fyfe, WM | 1 |
| Bickel, H; Kaiser-Grubel, S | 1 |
| Blehová, B; Kunft, R; Pazoutová, N; Zidlický, A | 1 |
| Coburn, SP; Fuller, RW; Mahuren, JD | 1 |
| Baullinger, PC; Levy, HL; Madigan, PM | 1 |
| Christian, BG | 1 |
| Beyreiss, K; Theile, H | 1 |
| Anke, A; Knapp, A | 1 |
| Dressler, F; Gostomzyk, JG | 1 |
| Humbel, R; Kutter, D | 1 |
| Colombo, JP; Humbel, R; Rossi, E; Vassella, F | 2 |
| Neĭfakh, SA; Shaposhnikov, AM | 1 |
| Kahan, J; Philipson, A; Sundblad, L; Werner, B | 1 |
| Bartolozzi, G; Corvaglia, E | 1 |
| Klopfer, FD; Schalock, RL | 1 |
| Araki, M; Haruki, T; Okumura, Y; Oura, T; Takai, T | 1 |
| Akopian, ZhI; Kaplanskiĭ, SIa | 1 |
| Brandt, IK; Castells, S | 1 |
| Hsia, D; O'Flynn, ME | 1 |
| Dyken, P | 1 |
| Carré, IJ; Carson, NA; Neill, DW | 1 |
| Dobson, J; Frankenburg, W; Hudson, F; Koch, R; O'Flynn, M; Spector, R; Warner, R; Williamson, M | 1 |
| Pineda, G | 1 |
| Brandt, IK; Castells, S; LaCamera, RG; Wessel, MA | 1 |
| Rosenblatt, D; Scriver, CR | 1 |
| Berman, JL; Hsia, DY; O'Flynn, ME | 1 |
| Blennemann, H | 1 |
| Kurumada, T; Nakamura, N; Onisawa, J; Suzuki, Y | 1 |
| Williams, R | 1 |
| Coffelt, RW; Coldwell, JG; Duncan, BR; Frankenburg, WK; Koch, R; Son, CD | 1 |
| Epps, RP | 1 |
| Dittmann, J | 1 |
| Berger, R; Broyer, M | 1 |
| Cohn, GH; Efron, ML; Moser, HW; Ouellette, EM | 1 |
| Coburn, SP; Fuller, RW; Seidenberg, M | 1 |
| McKean, CM; Peterson, NA | 1 |
| Wolff, OH | 1 |
| Ammaniti, M; Bollea, G; Porro, G | 1 |
| Nitschké, E | 1 |
| Simon, K | 1 |
| Huth, E; Klingmüller, V | 1 |
| von Berg, W; Wolf, H | 1 |
| Plöchl, E; Thalhammer, O; Weissenbacher, G | 1 |
| Ammaniti, M | 2 |
| Acosta, PB; Fiedler, JL; Koch, R | 1 |
| Brown, WJ; Gunter, R; Wright, ET | 1 |
| Foote, JL; Tao, RV | 1 |
| Adam, E; Dautrevaux, M; Farriaux, JP; Fontaine, G; Gosselin, B | 1 |
| Anders, PW; Curtius, HC; Marthaler, T; Rampini, S | 2 |
| Efron, ML; Fellers, FX; Kang, ES; Visakorpi, J | 1 |
| Rett, A | 1 |
| Berman, JL; Cunningham, GC; Day, RW; Hsia, DY | 1 |
| Fuller, RN; Shuman, JB | 1 |
| Centerwall, SA; Centerwall, WR | 1 |
| Berman, JL; Cunningham, GC; Day, RW; Ford, R; Hsia, DY | 1 |
| Gjessing, LR; Seip, M; Vellan, EJ | 1 |
| Aviad, Y; Cohen, BE; Costeff, H; Szeinberg, A | 1 |
| Brachfeld, K; Svatý, J; Tresohlavá, Z | 1 |
| Brooks, PV; Rogers, PJ | 1 |
| Anke, A; Heilmann, HH; Knapp, A; Machill, G; Schwenke, W | 1 |
| Knapp, A; Machill, G; Zehmisch, E | 1 |
| Murphy, D | 1 |
| Borysiewicz, J; Frendo, J; Gościńska, Z; Poteć, Z | 1 |
| Clarke, JT; Lowden, JA | 1 |
| Griek, BJ; Schlesinger, K; Schreiber, RA | 1 |
| Anderson, JA; Fisch, RO; Gravem, HJ; Greenwood, CS; Torres, F | 1 |
| Cohen, BE; Crispin, M; Golan, R; Lavi, U; Peled, I; Szeinberg, A | 1 |
| Macleod, JA | 1 |
| Friesen, AJ; Hansen, S; Perry, TL; Richardson, KS | 1 |
| Lund, E; Ovlisen, B; Vollmond, K | 1 |
| Charpentier, C; Leluc, R; Lemonnier, A | 1 |
| Attal, C; Boisse, J; Leluc, R; Mozziconacci, P | 1 |
| Brenneman, AR; Kaufman, S | 1 |
| Perez, VJ | 1 |
| Garrard, SD; Schneider, AJ | 1 |
| Kuberski, Z | 1 |
| Clark, PT; Rice, JD | 1 |
| Keleske, L; Opitz, E; Solomons, G | 1 |
| Day, RW; Kleinman, DS; Twiss, S | 1 |
| Bremer, HJ; Neumann, W | 1 |
| Drejza, EJ; Jervis, GA | 1 |
| Anderson, JA; Yarbro, MT | 1 |
| Anderson, JA; Fisch, RO; Walker, WA | 1 |
| Coffelt, W; Donnell, GN; Fish, CH; Guthrie, R; Koch, R; Straus, R; Williamson, ML | 1 |
| Clayton, BE; Moncrieff, AA; Pampiglione, G; Shepherd, J | 1 |
| Rouse, BM | 1 |
| Cunningham, RF; Polidora, VJ; Waisman, HA | 1 |
| Kivimaki, T; Palo, J | 1 |
| Frisone, L | 1 |
| Lund, E; Ovnbol, A | 1 |
| Juul, P | 1 |
| Daley, N; Haylock, S; Hillman, JC; Reiss, J; Reiss, M | 1 |
| Fedge, AK; Kugel, RB; Lundgren, RG | 1 |
| Scott, J | 1 |
| Cobet, G; Hübschmann, K | 1 |
| Maneke, M; Rolirad, KD; Wolf, H | 1 |
230 review(s) available for phenylalanine and BH4 Deficiency
| Article | Year |
|---|---|
Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis.
Topics: Age Factors; Biomarkers; Diet; Diet Therapy; Disease Susceptibility; Eating; Humans; Nutrition Assessment; Obesity; Overweight; Phenylalanine; Phenylketonurias; Publication Bias; Risk Factors | 2021 |
Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
Topics: Biopterins; Consensus; Humans; Italy; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2021 |
Glycomacropeptide in PKU-Does It Live Up to Its Potential?
Topics: Animals; Caseins; Peptide Fragments; Phenylalanine; Phenylketonurias | 2022 |
Protein status in phenylketonuria: A scoping review.
Topics: Anthropometry; Diet; Humans; Phenylalanine; Phenylketonurias | 2022 |
Evaluation of the Consumption of Fruits and Vegetables by Phenylketonurics in the Metabolic Control of Phenylalanine: An Integrative Review.
Topics: Diet, Protein-Restricted; Fruit; Humans; Phenylalanine; Phenylketonurias; Vegetables | 2022 |
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.
Topics: Adult; Glutathione Disulfide; Glutathione Reductase; Humans; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pyruvates; Tyrosine | 2022 |
Next-generation probiotics as a therapeutic strategy for the treatment of phenylketonuria: a review.
Topics: Adult; Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Probiotics | 2022 |
Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.
Topics: Attention; Cognition; Humans; Memory, Short-Term; Phenylalanine; Phenylketonurias | 2022 |
Genetic etiology and clinical challenges of phenylketonuria.
Topics: Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2022 |
Present and future of lipid nanoparticle-mRNA technology in phenylketonuria disease treatment.
Topics: Humans; Liposomes; Nanoparticles; Phenylalanine; Phenylketonurias; RNA, Messenger; Technology | 2022 |
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Quality of Life | 2022 |
Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural Protein.
Topics: Diet; Humans; Phenylalanine; Phenylketonurias | 2022 |
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature.
Topics: Adolescent; Adult; Child; Cognition; Cross-Sectional Studies; Humans; Neurophysiology; Phenylalanine; Phenylketonurias | 2023 |
A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU.
Topics: Amino Acids; Diet; Humans; Phenylalanine; Phenylketonurias; Vitamins | 2023 |
Phenylketonuria and the brain.
Topics: Animals; Brain; Child; Female; Humans; Microcephaly; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2023 |
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Topics: Female; Genetics, Medical; Genomics; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; United States | 2023 |
A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020).
Topics: Breast Feeding; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Phenylalanine; Phenylketonurias; Retrospective Studies; Surveys and Questionnaires | 2023 |
Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis.
Topics: Adolescent; Adult; Child; Child, Preschool; Databases, Factual; Humans; Immune Tolerance; Infant; Longevity; Phenylalanine; Phenylketonurias | 2023 |
Metabolic control and clinical outcome in adolescents with phenylketonuria.
Topics: Adolescent; Adult; Brain; Cognition; Executive Function; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2023 |
Breast feeding in infants diagnosed with phenylketonuria (PKU): a scoping review.
Topics: Breast Feeding; Female; Humans; Infant; Infant Formula; Milk, Human; Phenylalanine; Phenylketonurias; Weight Gain | 2023 |
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.
Topics: Amino Acids; Chromatography, High Pressure Liquid; Dried Blood Spot Testing; Humans; Phenylalanine; Phenylketonurias; Tandem Mass Spectrometry | 2020 |
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines.
Topics: Adult; Brain; Cognition; Female; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Precision Medicine | 2020 |
Phenylketonuria, co-morbidity, and ageing: A review.
Topics: Adult; Aged; Aging; Comorbidity; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias | 2020 |
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.
Topics: Adult; Humans; Nervous System Diseases; Phenylalanine; Phenylketonurias; White Matter | 2020 |
A Review on Electrochemical Sensors and Biosensors Used in Phenylalanine Electroanalysis.
Topics: Biosensing Techniques; Electrochemical Techniques; Equipment Design; Humans; Phenylalanine; Phenylketonurias | 2020 |
PKU dietary handbook to accompany PKU guidelines.
Topics: Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 2020 |
Dietary interventions for phenylketonuria.
Topics: Child, Preschool; Humans; Intelligence; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Treatment Outcome; Withholding Treatment | 2020 |
Bone Status in Patients with Phenylketonuria: A Systematic Review.
Topics: Adolescent; Adult; Bone and Bones; Bone Density; Bone Remodeling; Bone Resorption; Child; Cohort Studies; Cross-Sectional Studies; Diet, Protein-Restricted; Female; Fractures, Bone; Humans; Male; Osteogenesis; Phenylalanine; Phenylketonurias; Young Adult | 2020 |
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
Topics: Educational Status; Humans; Nurse Practitioners; Phenylalanine; Phenylketonurias | 2021 |
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
Topics: Adolescent; Adult; Diet; Europe; Female; Genomics; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; United States | 2020 |
The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
Topics: Adult; Europe; Humans; Italy; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2021 |
Dietary protein and protein substitute requirements in adults with phenylketonuria: A review of the clinical guidelines.
Topics: Adolescent; Adult; Amino Acids; Dietary Proteins; Female; Food, Formulated; Humans; Male; Nutrition Policy; Phenylalanine; Phenylketonurias; Young Adult | 2021 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Randomized Controlled Trials as Topic; Tyrosine | 2021 |
Protein Substitutes in PKU; Their Historical Evolution.
Topics: Amino Acids; Animals; Caseins; Child, Preschool; Dietary Proteins; Female; History, 20th Century; History, 21st Century; Humans; Nutritional Requirements; Peptide Fragments; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Protein Hydrolysates; United Kingdom | 2021 |
Phenylketonuria.
Topics: Genetic Therapy; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias | 2021 |
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.
Topics: Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Systematic Reviews as Topic | 2021 |
New protein structures provide an updated understanding of phenylketonuria.
Topics: Allosteric Regulation; Biopterins; Genotype; Humans; Mutation; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Protein Structure, Tertiary | 2017 |
[Adult phenylketonuria].
Topics: Adult; Age Factors; Aging; Female; Health Services Accessibility; Humans; Long-Term Care; Male; Middle Aged; Phenylalanine; Phenylketonurias | 2017 |
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review.
Topics: Adrenoleukodystrophy; Adult; Heterozygote; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2018 |
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Topics: Enzyme Replacement Therapy; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Polyethylene Glycols | 2018 |
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Topics: Biopterins; Disease Management; Genetic Therapy; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2018 |
Can untreated PKU patients escape from intellectual disability? A systematic review.
Topics: Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 2018 |
A systematic review of cognitive functioning in early treated adults with phenylketonuria.
Topics: Attention; Cognition; Cognition Disorders; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2018 |
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Topics: Amino Acids; Circadian Rhythm; Diet; Dietary Proteins; Dietary Supplements; Humans; Intestinal Absorption; Nitrogen; Phenylalanine; Phenylketonurias; Tyrosine | 2019 |
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients.
Topics: Biomarkers; Brain; Humans; Oxidative Stress; Phenylalanine; Phenylketonurias | 2019 |
The Use of Glycomacropeptide in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis.
Topics: Amino Acids; Caseins; Diet, Protein-Restricted; Dietary Supplements; Humans; Peptide Fragments; Phenylalanine; Phenylketonurias; Tyrosine | 2018 |
Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta-analysis of randomized controlled trials.
Topics: Biopterins; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic; Treatment Outcome | 2019 |
Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU.
Topics: Adolescent; Caseins; Child; Child, Preschool; Female; Humans; Longitudinal Studies; Male; Nutritional Status; Peptide Fragments; Phenylalanine; Phenylketonurias | 2019 |
Phenylketonuria: Current Treatments and Future Developments.
Topics: Female; Genetic Therapy; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 2019 |
State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.
Topics: Animals; Biomarkers; Clinical Trials as Topic; Dependovirus; Disease Models, Animal; Gene Editing; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Humans; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Plasmids | 2019 |
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
Topics: Biopterins; Cognition; Humans; Infant, Newborn; Neonatal Screening; Oxidative Stress; Phenylalanine; Phenylketonurias; White Matter | 2020 |
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Topics: Biopterins; Humans; Patient Selection; Phenylalanine; Phenylketonurias | 2013 |
Phenylalanine hydroxylase: function, structure, and regulation.
Topics: Animals; Biopterins; Humans; Kinetics; Melanins; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Folding | 2013 |
Newborn screening 50 years later: access issues faced by adults with PKU.
Topics: Adult; Cohort Studies; Genetic Testing; Health Services Accessibility; Humans; Infant, Newborn; Long-Term Care; Neonatal Screening; Phenylalanine; Phenylketonurias; Socioeconomic Factors; Treatment Outcome; United States | 2013 |
[Maternal phenylketonuria].
Topics: Adult; Biomarkers; Female; Humans; Hungary; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy | 2013 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine | 2013 |
Main issues in micronutrient supplementation in phenylketonuria.
Topics: Dietary Supplements; European Union; Humans; Micronutrients; Minerals; Phenylalanine; Phenylketonurias; Vitamins | 2013 |
Is overweight an issue in phenylketonuria?
Topics: Exercise; Feeding Behavior; Female; Humans; Male; Nutritional Status; Obesity; Patient Compliance; Phenylalanine; Phenylketonurias; Prevalence; Risk Factors | 2013 |
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Topics: Adult; Age Factors; Biopterins; Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; PubMed | 2013 |
Optimal serum phenylalanine for adult patients with phenylketonuria.
Topics: Adult; Brain; Cholesterol; Humans; Magnetic Resonance Imaging; Nitric Oxide; Oxidative Stress; Phenylalanine; Phenylketonurias; Radiography; Vitamin D | 2013 |
Advances in the nutritional and pharmacological management of phenylketonuria.
Topics: Amino Acids; Biopterins; Bone and Bones; Caseins; Dietary Supplements; Humans; Milk Proteins; Mutation; Peptide Fragments; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine; Whey Proteins | 2014 |
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Executive Function; Humans; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Risk Factors | 2013 |
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Topics: Evidence-Based Medicine; Female; Humans; Patient Compliance; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Pregnancy; Tyrosine | 2014 |
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Topics: Biopterins; Databases, Genetic; Genetic Association Studies; Genetic Testing; Genotype; Humans; Hydrolysis; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2014 |
A systematic review of bone mineral density and fractures in phenylketonuria.
Topics: Absorptiometry, Photon; Bone Density; Female; Fractures, Bone; Humans; Male; Phenylalanine; Phenylketonurias | 2014 |
[Diagnostics and treatment of phenylketonuria].
Topics: Biopterins; Denmark; Diet, Protein-Restricted; Dietary Supplements; Humans; Phenylalanine; Phenylketonurias | 2015 |
Protein substitute for children and adults with phenylketonuria.
Topics: Adult; Child; Dietary Proteins; Food, Formulated; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic | 2015 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2015 |
Weight Management in Phenylketonuria: What Should Be Monitored.
Topics: Anthropometry; Body Composition; Body Mass Index; Body Weight Maintenance; Comorbidity; Europe; Humans; Life Style; Nutritional Status; Obesity; Overweight; Phenylalanine; Phenylketonurias | 2016 |
Diet in children with phenylketonuria and risk of cardiovascular disease: A narrative overview.
Topics: Adiponectin; Arginine; Blood Pressure; Cardiovascular Diseases; Child; Cholesterol, HDL; Cholesterol, LDL; Diet; Homocysteine; Humans; Oxidative Stress; Pediatric Obesity; Phenylalanine; Phenylketonurias; Risk Factors | 2016 |
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Topics: Adult; Consensus; Evidence-Based Medicine; Female; Humans; Infant, Newborn; Nutrition Policy; Nutrition Therapy; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Pregnancy; Recommended Dietary Allowances | 2016 |
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
Topics: Biopterins; Delphi Technique; Disease Management; Europe; Humans; Phenylalanine; Phenylketonurias | 2017 |
The truth of treating patients with phenylketonuria after childhood: the need for a new guideline.
Topics: Adult; Blood-Brain Barrier; Bone Density; Child; Diet Therapy; Guidelines as Topic; Humans; Magnetic Resonance Imaging; Models, Biological; Nutritional Sciences; Phenylalanine; Phenylketonurias | 2008 |
Protein substitute for children and adults with phenylketonuria.
Topics: Adult; Child; Dietary Proteins; Food, Formulated; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic | 2008 |
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis.
Topics: Adolescent; Adult; Age Factors; Child; Computers; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Psychomotor Performance; Young Adult | 2009 |
Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?
Topics: Amino Acids, Neutral; Animals; Blood-Brain Barrier; Brain; Brain Diseases; Cytotoxins; Humans; Models, Biological; Phenylalanine; Phenylketonurias | 2009 |
Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU).
Topics: Child; Child, Preschool; Dietary Supplements; Fatty Acids, Omega-3; Female; Fish Oils; Humans; Infant; Male; Motor Skills; Nervous System Diseases; Nutritional Requirements; Phenylalanine; Phenylketonurias | 2009 |
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.
Topics: Biopterins; Dose-Response Relationship, Drug; Half-Life; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2009 |
Undiagnosed maternal phenylketonuria: own clinical experience and literature review.
Topics: Abortion, Eugenic; Adult; Delayed Diagnosis; Female; Heart Septal Defects, Ventricular; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Diagnosis | 2009 |
Sapropterin: a new therapeutic agent for phenylketonuria.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2009 |
[Phenylketonuria--toward a better carry-over care].
Topics: Adolescent; Adult; Amino Acids, Neutral; Biopterins; Continuity of Patient Care; Diet Therapy; Female; Humans; Infant, Newborn; Insurance, Life; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors; Young Adult | 2010 |
Dietary interventions for phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Treatment Outcome | 2010 |
Executive function in early-treated phenylketonuria: profile and underlying mechanisms.
Topics: Cohort Studies; Humans; Memory; Phenylalanine; Phenylketonurias | 2010 |
Outcomes beyond phenylalanine: an international perspective.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Patient Compliance; Phenylalanine; Phenylketonurias; Self Efficacy | 2010 |
Future treatment strategies in phenylketonuria.
Topics: Blood-Brain Barrier; Humans; Patient Compliance; Phenylalanine; Phenylketonurias | 2010 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias | 2010 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine | 2010 |
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.
Topics: Animals; Diet Therapy; Drug Discovery; Enzyme Replacement Therapy; Humans; Metabolism, Inborn Errors; Models, Biological; Models, Molecular; Orphan Drug Production; Phenylalanine; Phenylketonurias; Proteostasis Deficiencies | 2010 |
Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria.
Topics: Administration, Oral; Biopterins; Evidence-Based Medicine; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tablets; Treatment Outcome | 2010 |
Mild hyperphenylalaninemia: to treat or not to treat.
Topics: Choice Behavior; Decision Making; Humans; Osmolar Concentration; Phenylalanine; Phenylketonurias; Severity of Illness Index; Treatment Outcome; Watchful Waiting | 2011 |
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?
Topics: Biopterins; Clinical Protocols; Feeding Behavior; Humans; Phenylalanine; Phenylketonurias | 2011 |
Phenylalanine hydroxylase deficiency.
Topics: Animals; Clinical Trials as Topic; Diagnosis, Differential; DNA Mutational Analysis; Genetic Association Studies; Genetic Testing; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2011 |
Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit.
Topics: Amino Acids; Female; Follow-Up Studies; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Neonatal Screening; Parenteral Nutrition, Total; Phenylalanine; Phenylketonurias; Risk Assessment; Severity of Illness Index | 2011 |
Weaning infants with phenylketonuria: a review.
Topics: Appetite; Dietary Proteins; Dietary Supplements; Growth and Development; Humans; Infant; Phenylalanine; Phenylketonurias; Weaning | 2012 |
Tetrahydrobiopterin: biochemistry and pathophysiology.
Topics: Animals; Biopterins; Humans; Hypertension; Nitric Oxide Synthase; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2011 |
Nutrition in phenylketonuria.
Topics: Body Composition; Dietary Proteins; Humans; Micronutrients; Nutritional Status; Phenylalanine; Phenylketonurias | 2011 |
Optimising growth in phenylketonuria: current state of the clinical evidence base.
Topics: Brain; Child; Child Development; Diet, Protein-Restricted; Evidence-Based Medicine; Growth; Humans; Nutritional Status; Phenylalanine; Phenylketonurias | 2012 |
Oxidative stress in phenylketonuria: future directions.
Topics: Adolescent; Adult; Antioxidants; Child; Child, Preschool; Diet Therapy; Dietary Supplements; Follow-Up Studies; Free Radicals; Humans; Infant, Newborn; Middle Aged; Oxidative Stress; Phenylalanine; Phenylketonurias; Risk | 2012 |
Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria.
Topics: Glycopeptides; Humans; Milk Proteins; Nutritional Requirements; Phenylalanine; Phenylketonurias; Treatment Outcome; Whey Proteins | 2012 |
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
Topics: Adolescent; Adult; Child; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Young Adult | 2013 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2012 |
Phenylketonuria: an update.
Topics: Animals; Genotype; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Molecular Biology; Neonatal Screening; Phenylalanine; Phenylketonurias | 2002 |
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
Topics: Animals; Gene Expression Regulation, Enzymologic; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
BH4-sensitive hyperphenylalaninemia: new case and review of literature.
Topics: Biopterins; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 2003 |
PHENYLKETONURIA IN PEDIATRIC PRACTICE.
Topics: Child; Diet; Diet Therapy; Humans; Intelligence; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Scotland | 1963 |
PHENYLKETONURIA. A REVIEW OF SOME DEFICITS IN OUR INFORMATION.
Topics: Blood Chemical Analysis; Brain; Brain Damage, Chronic; Brain Injuries; Child; Diagnosis; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Pathology; Phenylalanine; Phenylketonurias; Statistics as Topic | 1964 |
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Biopterins; Genotype; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
[MAOB: a modifier gene in phenylketonuria?].
Topics: Genes, Recessive; Humans; Infant, Newborn; Monoamine Oxidase; Phenethylamines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
Adult phenylketonuria.
Topics: Adult; Aging; Female; Humans; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonurias | 2004 |
Impaired glutamatergic synaptic transmission in the PKU brain.
Topics: Animals; Brain; Cells, Cultured; gamma-Aminobutyric Acid; Glutamic Acid; Mice; Neurons; Phenylalanine; Phenylketonurias; Rats; Receptors, AMPA; Receptors, Glutamate; Receptors, N-Methyl-D-Aspartate; Synaptic Transmission | 2005 |
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
Topics: Animals; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2005 |
Protein substitute for children and adults with phenylketonuria.
Topics: Adult; Child; Dietary Proteins; Food, Formulated; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic | 2005 |
The time has come: a new scene for PKU treatment.
Topics: Amino Acids; Diet, Protein-Restricted; Food; Food, Formulated; Genetic Therapy; Humans; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Taste | 2006 |
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.
Topics: Adolescent; Adult; Brain; Cognition Disorders; Humans; Intelligence; Neurologic Examination; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Disorders; Young Adult | 2007 |
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Coenzymes; Humans; Hydroxymethylglutaryl CoA Reductases; Metabolic Networks and Pathways; Mevalonic Acid; Mitochondrial Diseases; Models, Biological; Oxidative Stress; Phenylalanine; Phenylketonurias; Ubiquinone | 2007 |
Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.
Topics: Animals; Biopterins; Clinical Trials as Topic; Genotype; Humans; Phenylalanine; Phenylketonurias | 2008 |
The role of tetrahydrobiopterin in neurological disease: a review.
Topics: Aluminum; Biopterins; Brain; Dementia; Humans; Lead Poisoning; Nervous System Diseases; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines | 1981 |
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Folic Acid; GTP Cyclohydrolase; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines | 1984 |
Adverse effects of excessive consumption of amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Animal; Ethionine; Fenclonine; Glycine; Growth Disorders; Histidine; Humans; Methionine; Nerve Tissue Proteins; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pneumonia, Atypical Interstitial, of Cattle; Serine; Stereoisomerism; Sulfhydryl Compounds; Tissue Distribution; Tryptophan; Tyrosine; Vitamin A | 1984 |
Phenylketonuria and its variants.
Topics: Biopterins; Diagnosis, Differential; Genetic Carrier Screening; Genetic Linkage; Humans; Infant, Newborn; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1983 |
Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge.
Topics: Adolescent; Adult; Child; Child, Preschool; Denmark; Diet Therapy; Female; History, 20th Century; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy | 1984 |
Progress in experimental phenylketonuria: a critical review.
Topics: Abnormalities, Multiple; Animals; Disease Models, Animal; Energy Metabolism; Female; Fenclonine; Glutamates; Humans; Mice; Myelin Sheath; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Protein Biosynthesis; Pyridoxine; Serotonin | 1981 |
[Tetrahydroblopterin. Metabolism and metabolic role of unconjugated pteridines (author's transl)].
Topics: Animals; Biological Transport; Biopterins; Cattle; Humans; Mice; Mixed Function Oxygenases; Neoplasms; Neurotic Disorders; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Pteridines; Rats | 1980 |
Phenylketonuria: epitome of human biochemical genetics (first of two parts).
Topics: Animals; Biopterins; Brain; Chromosome Mapping; Female; Homeostasis; Humans; Intellectual Disability; Liver; Mutation; Myelin Proteins; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1980 |
Neonatal screening tests.
Topics: Adenosine Deaminase; Anemia, Sickle Cell; Biological Assay; Costs and Cost Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tyrosine; United States | 1980 |
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Carrier Screening; Humans; Infant, Newborn; Intellectual Disability; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Terminology as Topic | 1980 |
Phenylketonuria and other phenylalanine hydroxylation mutants in man.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Dihydropteridine Reductase; Female; Fetal Diseases; Gene Frequency; Genetic Carrier Screening; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats | 1980 |
[Biogenic amines and hyperphenylalaninemia (author's transl)].
Topics: Biogenic Amines; Biopterins; Dihydropteridine Reductase; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1981 |
Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
Topics: Denmark; Genetic Variation; Genotype; Humans; Infant, Newborn; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index | 1994 |
White matter abnormalities in phenylketonuria: results of magnetic resonance measurements.
Topics: Brain Chemistry; Brain Diseases; Case-Control Studies; Demyelinating Diseases; Electrophysiology; Humans; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias | 1994 |
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.
Topics: Brain Chemistry; Clinical Trials as Topic; Cross-Over Studies; Dopamine; Double-Blind Method; Electroencephalography; Humans; Neuropsychological Tests; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1994 |
Phenylalanine levels of 6-10 mg/dl may not be as benign as once thought.
Topics: Animals; Case-Control Studies; Cerebral Cortex; Cognition Disorders; Contrast Sensitivity; Cross-Sectional Studies; Disease Models, Animal; Humans; Longitudinal Studies; Phenylalanine; Phenylketonurias; Rats | 1994 |
The hyperphenylalaninemias of man and mouse.
Topics: Animals; Chromosome Mapping; Genetic Variation; Humans; Mice; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1994 |
Long-term follow-up of children with classical phenylketonuria after diet discontinuation: a review.
Topics: Adolescent; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Longitudinal Studies; Male; Nervous System; Phenylalanine; Phenylketonurias | 1994 |
White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 1993 |
[Phenylketonuria and its treatment in and beyond adolescence].
Topics: Adolescent; Adult; Child; Combined Modality Therapy; Diagnosis, Differential; Female; Humans; Male; Patient Care Team; Patient Compliance; Phenylalanine; Phenylketonurias | 1994 |
Evidence for the importance of dopamine for prefrontal cortex functions early in life.
Topics: Animals; Child, Preschool; Cognition; Disease Models, Animal; Dopamine; Humans; Infant; Inhibition, Psychological; Macaca; Neural Pathways; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Spatial Behavior; Task Performance and Analysis; Tyrosine; Visual Pathways | 1996 |
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Topics: Alleles; Animals; Chromosomes, Human, Pair 12; COS Cells; Enzyme Induction; Frameshift Mutation; Genetic Heterogeneity; Genotype; Humans; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Recombinant Fusion Proteins; RNA Splicing; Sequence Deletion | 1997 |
[Phenylketonuria (phenylalanine hydroxylase deficiency)].
Topics: Central Nervous System Diseases; Diagnosis, Differential; Humans; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 1998 |
[Disorders of tetrahydrobiopterin homeostasis].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Hydro-Lyases; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Prognosis | 1998 |
Diet in phenylketonuria: how long? Policies under discussion.
Topics: Diet, Protein-Restricted; Humans; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Time Factors | 1998 |
Treating phenylketonuria by a phenylalanine-free diet.
Topics: Adult; Child; Child Nutrition Sciences; Female; Humans; Parents; Phenylalanine; Phenylketonurias; Pregnancy | 1998 |
Phenylketonuria: old disease, new approach to treatment.
Topics: Animals; Diet; Humans; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 1999 |
New approaches to the treatment of phenylketonuria.
Topics: Animals; Diet; Female; Humans; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1999 |
Monogenic traits are not simple: lessons from phenylketonuria.
Topics: Alleles; Animals; Cognition; Humans; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1999 |
[Phenylketonuria: a children's disease in adulthood].
Topics: Adult; Child; Congenital Abnormalities; Female; Humans; Male; Mental Disorders; Netherlands; Neuropsychological Tests; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2000 |
Neuropsychological approaches to treatment policy issues in phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Health Policy; Humans; Neuropsychology; Phenylalanine; Phenylketonurias; Time Factors | 2000 |
Behaviour in early treated phenylketonuria: a systematic review.
Topics: Adolescent; Adolescent Behavior; Adult; Child; Child Behavior; Female; Humans; Male; Personality; Phenylalanine; Phenylketonurias; Time Factors | 2000 |
In vivo proton magnetic resonance spectroscopy in phenylketonuria.
Topics: Animals; Biological Transport; Blood-Brain Barrier; Brain; Brain Chemistry; Humans; Magnetic Resonance Spectroscopy; Models, Biological; Phenylalanine; Phenylketonurias | 2000 |
Diet and compliance in phenylketonuria.
Topics: Child; Dietary Proteins; Humans; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias; Sociology; Time Factors | 2000 |
Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets.
Topics: Amino Acids; Circadian Rhythm; Diet; Dietary Supplements; Dose-Response Relationship, Drug; Female; Food, Fortified; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Taste; Tyrosine | 2001 |
Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria.
Topics: Adult; Animals; Arachidonic Acid; Brain; Brain Diseases, Metabolic; Child; Disease Models, Animal; Docosahexaenoic Acids; Female; Humans; Infant; Infant, Newborn; Male; Mice; Mitochondria; Models, Biological; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2001 |
Phenylketonuria: tyrosine beyond the phenylalanine-restricted diet.
Topics: Amino Acids, Neutral; Blood-Brain Barrier; Humans; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Tyrosine | 2001 |
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Biopterins; Humans; Molecular Sequence Data; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation | 2001 |
Assessment of adult phenylketonuria.
Topics: Adult; Animals; Avitaminosis; Child; Dietary Supplements; Genetic Therapy; Health Education; Humans; Phenylalanine; Phenylketonurias; Survivors | 2001 |
The Guthrie test. Midwifery basics.
Topics: Blood Specimen Collection; Clinical Competence; Humans; Infant, Newborn; Midwifery; Neonatal Screening; Phenylalanine; Phenylketonurias | 2002 |
[Inborn errors of metabolism and neurotransmitters].
Topics: Catecholamines; Glutamine; Humans; Metabolism, Inborn Errors; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin | 1978 |
Urinary phenylalanine metabolites in preweanling rats treated with p-chlorophenylalanine and phenylalanine.
Topics: Animals; Disease Models, Animal; Fenclonine; Humans; Lactates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1975 |
Phenylketonuria: metabolic alterations induced by phenylalanine and phenylpyruvate.
Topics: Amino Acids; Animals; Brain; Energy Metabolism; Humans; Intellectual Disability; Lipids; Liver; Nerve Tissue Proteins; Neurotransmitter Agents; Nucleic Acids; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1975 |
[Disorders of amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child, Preschool; Humans; Intelligence; Lipid Metabolism; Mice; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Serotonin | 1977 |
[Diet therapy successes in treating hereditary metabolic diseases in children].
Topics: Age Factors; Amino Acids; Body Weight; Child, Preschool; Diet; Dietary Proteins; Energy Intake; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1978 |
The justification theory: the essential nature of the non-essential amino acids.
Topics: Amino Acids; Diet; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; United States | 1979 |
[Diagnosis and therapy of 6 inherited, metabolic diseases, leading to mental deficiency. 1].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Heterozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intelligence Tests; Mass Screening; Mental Disorders; Phenylalanine; Phenylketonurias; Tyrosine | 1976 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heterozygote; Homocystinuria; Humans; Lesch-Nyhan Syndrome; Maple Syrup Urine Disease; Mental Disorders; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Porphyrias; Sphingolipidoses; Turner Syndrome; Urea | 1976 |
[Phenylketonuria yesterday and today. Evaluation of the work of systematic neonatal screening].
Topics: Female; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 1992 |
Novel aspects of metabolism and function of tetrahydrobiopterin.
Topics: Biopterins; Dihydropteridine Reductase; Enzyme Activation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
Biopterin-responsive hyperphenylalaninemia.
Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Codon; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic | 1992 |
[Genetics and hyperphenylalaninemias in 1992].
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Ethnicity; Female; Genetic Carrier Screening; Genetic Counseling; Genetic Therapy; Haplotypes; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutagenesis; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length; Pregnancy | 1992 |
[Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction].
Topics: Biopterins; Diagnosis, Differential; Female; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications | 1992 |
[Phenylalanine metabolites in hyperphenylalaninemic children].
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 1992 |
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1991 |
Phenylketonuria and the phenylalanine hydroxylase gene.
Topics: Animals; Base Sequence; DNA; DNA Mutational Analysis; Genetics, Population; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats | 1991 |
Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.
Topics: Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity | 1991 |
[Molecular basis of phenylketonuria].
Topics: Cloning, Molecular; Genes, Recessive; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length | 1990 |
[Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center].
Topics: Child; Child, Preschool; Diet Therapy; Humans; Infant; Mass Screening; Phenylalanine; Phenylketonurias; Spain; Time Factors | 1991 |
Transport of amino acids across the blood-brain barrier: implications for treatment of maternal phenylketonuria.
Topics: Animals; Blood-Brain Barrier; Female; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy | 1990 |
Transport of amino acids by the human placenta: predicted effects thereon of maternal hyperphenylalaninaemia.
Topics: Female; Humans; Maternal-Fetal Exchange; Microvilli; Phenylalanine; Phenylketonurias; Placenta; Pregnancy | 1990 |
The effects of high phenylalanine concentration on chick embryonic development.
Topics: Animals; Chick Embryo; Heart Defects, Congenital; Humans; Neural Crest; Phenylalanine; Phenylketonurias | 1990 |
Cardiac defects in the children of mothers with high concentrations of plasma phenylalanine.
Topics: Female; Heart Defects, Congenital; Humans; Infant, Newborn; Neural Crest; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1990 |
Undiagnosed phenylketonuria in adult women: a hidden public health problem.
Topics: Adult; Female; Humans; Intelligence; Middle Aged; Phenylalanine; Phenylketonurias | 1990 |
Progress in the identification of the heterozygote in phenylketonuria.
Topics: Breath Tests; Fasting; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis; Tyrosine | 1989 |
An evaluation of the possible neurotoxicity of metabolites of phenylalanine.
Topics: Animals; Brain; Humans; Phenethylamines; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1989 |
[Results, problems and consequences of early treatment of phenylketonuria].
Topics: Child; Child Development; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis | 1989 |
Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.
Topics: Alcohol Oxidoreductases; Animals; Biopterins; Body Fluids; Coenzymes; GTP Cyclohydrolase; Humans; Immune System Diseases; Mental Disorders; Metalloproteins; Molybdenum; Molybdenum Cofactors; Neoplasms; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Tetrahydrofolate Dehydrogenase; Tissue Distribution; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase | 1985 |
Mendelian hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dihydropteridine Reductase; Genes; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1988 |
Hyperphenylalaninemia syndromes: current status of diagnosis and management.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome | 1988 |
Aspartame: review of recent experimental and observational data.
Topics: Animals; Aspartame; Behavior, Animal; Brain Chemistry; Dipeptides; Humans; Phenylalanine; Phenylketonurias | 1988 |
Phenylketonuria.
Topics: Humans; Infant; Infant Food; Infant Nutritional Physiological Phenomena; Infant, Newborn; Phenylalanine; Phenylketonurias | 1987 |
Maternal phenylketonuria: cause for concern among women with PKU.
Topics: Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1987 |
Atypical cases of phenylketonuria.
Topics: Biopterins; Genetic Variation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1987 |
Tetrahydrobiopterin biosynthetic pathway and deficiency.
Topics: Alcohol Oxidoreductases; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis | 1987 |
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Genetic Variation; Humans; Hydroxylation; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1987 |
[Hyperphenylalaninemias. The Canadian and Quebec experience].
Topics: Amino Acid Metabolism, Inborn Errors; Canada; Female; Humans; Male; Mass Screening; Phenylalanine; Phenylketonurias; Quebec; Societies, Medical | 1987 |
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Biopterins; Diet; Dietary Proteins; Dihydropteridine Reductase; Europe; Female; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Prognosis; Pterins; Tyrosine | 1986 |
Pteridines and mono-amines: relevance to neurological damage.
Topics: Amines; Biopterins; Folic Acid; Humans; Nervous System; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1986 |
Alterations related to the cerebral free amino acid pool during development.
Topics: Age Factors; Amino Acids; Animals; Aspartate Aminotransferases; Biological Transport; Brain; Carbon Isotopes; Carboxy-Lyases; Carboxypeptidases; Cell Nucleus; Glucose; Glutamate Dehydrogenase; Glutamate-Ammonia Ligase; Humans; In Vitro Techniques; Mitochondria; Phenylalanine; Phenylketonurias; Species Specificity | 1971 |
[Congenital disorders of phenylalanine metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Transferases | 1973 |
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; Tyrosine | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
Current trends and problems in health screening.
Topics: Autoanalysis; Blood Glucose; Clinical Laboratory Techniques; Costs and Cost Analysis; Female; Humans; Intellectual Disability; Iron; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Statistics as Topic; Uric Acid | 1973 |
[Clinico-chemical symptom: hyperphenylalaninemia].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Syndrome | 1974 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
Phenylketonuria and other phenylalaninaemias.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Child; Diet; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors | 1974 |
Phenylketonuria 1967.
Topics: Diet Therapy; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
Psychological results in treated phenylketonuria. I. Gesell findings.
Topics: Adolescent; Age Factors; Child; Child Development; Child, Preschool; Diet Therapy; Follow-Up Studies; Humans; Infant; Intellectual Disability; Intelligence Tests; Interpersonal Relations; Language Development; Methods; Motor Skills; Phenylalanine; Phenylketonurias; Psychological Tests; Time Factors | 1967 |
Effects of treatment of phenylketonuria.
Topics: Deficiency Diseases; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias | 1968 |
[Phenylketonuria].
Topics: Adolescent; Adult; Brain; Child; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1967 |
Phenylalaninemia.
Topics: Diet Therapy; Humans; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias | 1968 |
[Clinical aspects of phenylketonuria].
Topics: Adolescent; Child; Child, Preschool; Chromatography, Paper; Diet Therapy; Electroencephalography; Female; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Serotonin | 1968 |
[Molecular biologic aspects in dermatology demonstrated by some hereditary enzyme defects].
Topics: Albinism; Alkaptonuria; Anemia, Sickle Cell; Chromosomes; Hartnup Disease; Humans; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Models, Chemical; Molecular Biology; Phenylalanine; Phenylketonurias; Porphyrias; Skin Diseases; Tyrosine | 1968 |
[Experimental hyperphenylalanemia].
Topics: Amino Acids; Animals; Behavior, Animal; Brain; Humans; Liver; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan | 1969 |
The measurement of phenylalanine and tyrosine in blood.
Topics: Adult; Biological Assay; Child, Preschool; Fluorometry; Humans; Indicators and Reagents; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methods; Microchemistry; Middle Aged; Naphthalenes; Nitroso Compounds; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Problems around phenylketonuria].
Topics: Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Measurement of phenylalanine hydroxylase activity in mammalian cells.
Topics: Animals; Carbon Isotopes; Cell Biology; Culture Techniques; Genotype; Heterozygote; Homozygote; Humans; Intestines; Kidney; Kinetics; Liver; Lung; Mice; Mixed Function Oxygenases; Muscles; Myocardium; Pancreas; Phenylalanine; Phenylketonurias; Spleen; Tyrosine | 1969 |
[Phenylalanine metabolism disorders in phenylketonuria (review)].
Topics: Humans; Phenylalanine; Phenylketonurias | 1969 |
Phenylketonuria and its variants.
Topics: Adult; Child, Preschool; Congenital Abnormalities; Female; Gene Frequency; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1970 |
Phenylketonuria: a review.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Mass Screening; Minerals; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Transaminases; Vitamins | 1970 |
Amino acid intoxication.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport, Active; Brain; Caseins; Chickens; Cytoplasm; Endoplasmic Reticulum; Fasting; Feeding Behavior; Glutathione; Growth; Humans; Injections, Intraperitoneal; Leucine; Liver; Methionine; Microsomes; Mitochondrial Swelling; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Protein Biosynthesis; Rats; Tyrosine | 1971 |
Results of dietary treatment in phenylketonuria.
Topics: Age Factors; Child; Child, Preschool; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Time Factors | 1971 |
The offspring of phenylketonuric women.
Topics: Abortion, Spontaneous; Adult; Birth Weight; Black or African American; Brain Chemistry; Breast Feeding; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Glutamine; Heart Auscultation; Heterozygote; Hexokinase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Maryland; Microcephaly; Myelin Sheath; Nerve Tissue Proteins; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Pyruvate Kinase; Umbilical Cord | 1971 |
Growth and nutrition in treated phenylketonic patients.
Topics: Child; Child Nutritional Physiological Phenomena; Circadian Rhythm; Diet Therapy; Dietary Proteins; Growth; Humans; Phenylalanine; Phenylketonurias; Proteins; Tyrosine | 1970 |
Malnutrition with early treatment of phenylketonuria.
Topics: Age Factors; Body Height; Body Weight; Child Development; Deficiency Diseases; Diet Therapy; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Intellectual Disability; Intelligence Tests; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Biochemical factors in mental retardation.
Topics: 5-Hydroxytryptophan; Animals; Brain Chemistry; Diet Therapy; Female; Guinea Pigs; Haplorhini; Humans; Infant; Intellectual Disability; Intelligence Tests; Male; Metabolism, Inborn Errors; Monoamine Oxidase; Phenylalanine; Phenylketonurias; Rats; Serotonin; Tryptophan; Tyrosine | 1967 |
[Study on experimental phenylketonuria].
Topics: Amino Acids; Animals; Brain; Female; Haplorhini; Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Tyrosine | 1968 |
Heredity and strabismus.
Topics: Chromosome Aberrations; Chromosome Disorders; Diseases in Twins; Eye Abnormalities; Female; Genes, Dominant; Genes, Recessive; Genetics, Population; Humans; Male; Phenotype; Phenylalanine; Phenylketonurias; Pigmentation; Sex Factors; Strabismus; United States | 1970 |
[Further problems and perspectives of phenylketonuria. Phenylketonuria and phenylalaninemia].
Topics: Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1966 |
[The biochemic lesions in phenylketonuria].
Topics: Humans; Phenylalanine; Phenylketonurias | 1966 |
Hyperphenylalanemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
An improved screening procedure for blood phenylalanine.
Topics: Humans; Infant; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
133 trial(s) available for phenylalanine and BH4 Deficiency
| Article | Year |
|---|---|
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses.
Topics: Adult; Antibodies, Neutralizing; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2021 |
Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study.
Topics: Child; Child, Preschool; Humans; Infant; Iran; Micronutrients; Phenylalanine; Phenylketonurias; Pilot Projects | 2021 |
PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study.
Topics: Adolescent; Adult; Biopterins; Cross-Over Studies; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pterins; Young Adult | 2022 |
Efficacy of a New Low-Protein Multimedia Diet App for PKU.
Topics: Adolescent; Child; Diet, Protein-Restricted; Humans; Mobile Applications; Multimedia; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2022 |
Impact of Fruit and Vegetable Protein vs. Milk Protein on Metabolic Control of Children with Phenylketonuria: A Randomized Crossover Controlled Trial.
Topics: Child; Fruit; Humans; Milk Proteins; Phenylalanine; Phenylketonurias; Plant Proteins, Dietary; Vegetables | 2022 |
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.
Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Child; Cognition; Double-Blind Method; Executive Function; Humans; Infant; Phenylalanine; Phenylketonurias; Treatment Outcome | 2023 |
Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.
Topics: Adolescent; Adult; Aged; East Asian People; Humans; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Young Adult | 2023 |
Does the 48-hour BH4 loading test miss responsive PKU patients?
Topics: Adolescent; Adult; Biopterins; Child; Diagnostic Tests, Routine; Female; Genotype; Humans; Male; Middle Aged; Mutation; Phenylalanine; Phenylketonurias; Time Factors | 2020 |
Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.
Topics: Administration, Oral; Adult; Brain; Clinical Trials, Phase IV as Topic; Cognition; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Equivalence Trials as Topic; Female; Humans; Magnetic Resonance Imaging; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Randomized Controlled Trials as Topic; Switzerland; Treatment Outcome | 2020 |
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.
Topics: Adult; Biopterins; Brain; Child; Child, Preschool; Dried Blood Spot Testing; Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 2021 |
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Topics: Adult; Drug Hypersensitivity; Female; Humans; Incidence; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Treatment Outcome; United States | 2021 |
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
Topics: Adult; Biopterins; Case-Control Studies; Diet; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2017 |
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.
Topics: Adolescent; Adult; Dietary Proteins; Double-Blind Method; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Young Adult | 2018 |
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Topics: Adult; Female; Humans; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Time Factors; Young Adult | 2018 |
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
Topics: Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2018 |
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Topics: Adolescent; Adult; Aged; Antibodies; Diagnostic Tests, Routine; Dose-Response Relationship, Drug; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Young Adult | 2018 |
Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials.
Topics: Adult; Antibodies; Antigen-Antibody Complex; Complement C3; Complement C4; Drug Hypersensitivity; Female; Humans; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2018 |
Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial.
Topics: Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Iran; Male; Phenylalanine; Phenylketonurias; Prognosis | 2019 |
Unrestricted fruits and vegetables in the PKU diet: a 1-year follow-up.
Topics: Child; Child, Preschool; Cross-Over Studies; Diet; Diet Records; Feeding Behavior; Follow-Up Studies; Fruit; Humans; Longitudinal Studies; Phenylalanine; Phenylketonurias; Vegetables | 2014 |
[Efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in 1-8 year-old children with phenylketonuria: a prospective, open, self-controlled and multi-center study in China].
Topics: Child; Child, Preschool; Enteral Nutrition; Female; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2014 |
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Topics: Adult; Drug Administration Schedule; Female; Humans; Injections, Subcutaneous; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Polyethylene Glycols; Time Factors; Treatment Outcome; United States | 2014 |
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
Topics: Biopterins; Child; Child Development; Child, Preschool; Cognition; Disease Progression; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Time Factors; Treatment Outcome | 2015 |
Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.
Topics: Adult; Blood-Brain Barrier; Brain Chemistry; Female; Humans; Male; Middle Aged; Models, Biological; Phenylalanine; Phenylketonurias; Positron-Emission Tomography; Protein Biosynthesis; Radiography | 2015 |
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Topics: Adolescent; Adult; Attention Deficit Disorder with Hyperactivity; Biopterins; Child; Dose-Response Relationship, Drug; Double-Blind Method; Executive Function; Female; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia].
Topics: Adolescent; Biopterins; Child; Child, Preschool; Coenzymes; Dihydropteridine Reductase; Drug Monitoring; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index; Treatment Outcome | 2014 |
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Drug Administration Schedule; Female; Genotype; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.
Topics: Adolescent; Adult; Analysis of Variance; Caseins; Cross-Over Studies; Dietary Proteins; Feeding Behavior; Female; Foods, Specialized; Gastrointestinal Diseases; Humans; Hunger; Male; Middle Aged; Patient Satisfaction; Peptide Fragments; Phenylalanine; Phenylketonurias; Young Adult | 2016 |
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Topics: Algorithms; Biopterins; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2017 |
Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource.
Topics: Adolescent; Adult; Dietary Proteins; Female; Health Knowledge, Attitudes, Practice; Humans; Male; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias; Pregnancy; Surveys and Questionnaires | 2008 |
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Drug Tolerance; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Safety; Young Adult | 2008 |
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Topics: Administration, Oral; Adolescent; Adult; Biological Availability; Biopterins; Body Weight; Child; Creatinine; Dose-Response Relationship, Drug; Europe; Female; Follow-Up Studies; Half-Life; Humans; Male; Metabolic Clearance Rate; Models, Biological; Phenylalanine; Phenylketonurias; United States; Young Adult | 2008 |
Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet.
Topics: Adult; Cross-Over Studies; Diet, Protein-Restricted; Double-Blind Method; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Prospective Studies; Social Behavior Disorders; United Kingdom; Young Adult | 2009 |
Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids.
Topics: Adolescent; Adult; Amino Acids; Blood Chemical Analysis; Blood Urea Nitrogen; Child; Consumer Product Safety; Cross-Over Studies; Female; Glycopeptides; Humans; Insulin; Male; Patient Satisfaction; Phenylalanine; Phenylketonurias; Postprandial Period; Treatment Outcome; Young Adult | 2009 |
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Topics: Algorithms; Biopterins; Child; Child, Preschool; Dietary Supplements; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2009 |
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.
Topics: Administration, Oral; Adult; Biopterins; Cross-Over Studies; Diet; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Models, Statistical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult | 2009 |
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
Topics: Diagnostic Techniques and Procedures; DNA Mutational Analysis; Gene Frequency; Genotype; Half-Life; Humans; Infant; Kinetics; Models, Biological; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Proteins | 2009 |
Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.
Topics: Adaptation, Physiological; Adult; Body Weight; Diet; Female; Genotype; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2009 |
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2010 |
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
Topics: Biopterins; Child; Child, Preschool; Dietary Proteins; Drug Tolerance; Eating; Female; Follow-Up Studies; Food, Formulated; Humans; Male; Nutritional Status; Phenylalanine; Phenylketonurias | 2010 |
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.
Topics: Adult; Affect; Attention; Cross-Over Studies; Dietary Supplements; Double-Blind Method; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Young Adult | 2011 |
The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Female; Food, Formulated; Humans; Male; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies; Reproducibility of Results; Young Adult | 2011 |
Tackling frontal lobe-related functions in PKU through functional brain imaging: a Stroop task in adult patients.
Topics: Adult; Behavior; Brain; Frontal Lobe; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Radiography; Young Adult | 2011 |
Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control.
Topics: Adolescent; Attention; Case-Control Studies; Child; Diet; Diet Therapy; Evoked Potentials, Visual; Female; Humans; Male; Mental Processes; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Time Factors | 2011 |
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Middle Aged; Phenylalanine; Phenylketonurias | 2011 |
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet; Female; Humans; Infant; Male; Patient Satisfaction; Phenylalanine; Phenylketonurias; Self Care; Young Adult | 2011 |
The development of nonweighed pilot methods for estimating phenylalanine exchanges in non-phenylketonuria volunteers.
Topics: Adolescent; Adult; Aged; Diet; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Photography; Reference Values; Reproducibility of Results; Weights and Measures; Young Adult | 2012 |
Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?
Topics: Adolescent; Anthropometry; Appetite; Body Weight; Child; Child, Preschool; Dietary Carbohydrates; Dietary Proteins; Dietary Supplements; Feeding Behavior; Female; Growth and Development; Humans; Male; Phenylalanine; Phenylketonurias | 2011 |
Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes.
Topics: Circadian Rhythm; Feeding Behavior; Female; Humans; Infant; Infant Formula; Male; Phenylalanine; Phenylketonurias | 2011 |
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.
Topics: Adolescent; Adult; Biomarkers, Pharmacological; Biopterins; Child; Decision Support Techniques; Female; Food, Formulated; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2011 |
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Topics: Adult; Alleles; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Double-Blind Method; Enzyme Activation; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control.
Topics: Child; Child, Preschool; Cross-Over Studies; Diet Records; Diet, Protein-Restricted; Dietary Proteins; Energy Intake; Fruit; Humans; Phenylalanine; Phenylketonurias; Vegetables | 2012 |
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Quality of Life; Surveys and Questionnaires | 2012 |
Recommendations for the use of sapropterin in phenylketonuria.
Topics: Biopterins; Child, Preschool; Diet; Humans; Monitoring, Physiologic; North America; Phenylalanine; Phenylketonurias | 2012 |
Phenylketonuria in adulthood: a collaborative study.
Topics: Adult; Brain Chemistry; Child; Continuity of Patient Care; Educational Status; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Regression Analysis; Social Class; Wechsler Scales | 2002 |
Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation.
Topics: Adolescent; Body Composition; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Fasting; Female; Food, Formulated; Growth; Humans; Linear Models; Lysine; Male; Nutritional Requirements; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Pulmonary Gas Exchange | 2002 |
Dietary threonine reduces plasma phenylalanine levels in patients with hyperphenylalaninemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Over Studies; Dietary Supplements; Humans; Phenylalanine; Phenylketonurias; Prospective Studies; Threonine | 2003 |
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Molecular Conformation; Mutation, Missense; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies | 2002 |
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.
Topics: Adolescent; Adult; Blood-Brain Barrier; Chromatography, High Pressure Liquid; Diet; Female; Genotype; Humans; Intelligence Tests; Kinetics; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias; Socioeconomic Factors | 2002 |
Are tablets a practical source of protein substitute in phenylketonuria?
Topics: Adolescent; Adult; Amino Acids; Beverages; Child; Cross-Over Studies; Dietary Supplements; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Tablets; Tyrosine | 2003 |
Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients.
Topics: Adolescent; Adult; Chromatography, High Pressure Liquid; Citrate (si)-Synthase; Coenzymes; Female; Humans; Hydroxymethylglutaryl CoA Reductases; Male; Middle Aged; Mitochondrial Diseases; Monocytes; Phenylalanine; Phenylketonurias; Succinate Cytochrome c Oxidoreductase; Ubiquinone | 2002 |
Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment.
Topics: Adult; Amino Acids; Brain; Diet; Dose-Response Relationship, Drug; Female; Humans; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 2003 |
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria.
Topics: Aging; Anthropometry; Body Composition; Body Height; Body Weight; Child; Child, Preschool; Chromatography, Gas; Cross-Sectional Studies; Diet; Erythrocytes; Female; Growth Disorders; Hormones; Humans; Insulin-Like Growth Factor Binding Protein 3; Insulin-Like Growth Factor I; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Thyroid Hormones; Trace Elements; Tyrosine | 2003 |
Administration of protein substitute and quality of control in phenylketonuria: a randomized study.
Topics: Amino Acids; Child; Child, Preschool; Cross-Over Studies; Diet, Protein-Restricted; Drug Administration Schedule; Energy Intake; Female; Food, Formulated; Humans; Infant; Male; Nutrition Policy; Osmolar Concentration; Phenylalanine; Phenylketonurias; Quality of Health Care | 2003 |
Free use of fruits and vegetables in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Over Studies; Female; Fruit; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Vegetables | 2003 |
The Maternal Phenylketonuria International Study: 1984-2002.
Topics: Analysis of Variance; Birth Weight; Child; Child, Preschool; Embryonic and Fetal Development; Female; Humans; Infant, Newborn; Intelligence; Logistic Models; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Prenatal Care; Statistics, Nonparametric | 2003 |
Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults.
Topics: Adult; Amino Acids, Neutral; Brain; Diet, Protein-Restricted; Dietary Supplements; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2003 |
A preliminary report on dopamine system reactivity in PKU: acute effects of haloperidol on neuropsychological, physiological, and neuroendocrine functions.
Topics: Adult; Blood Pressure; Cognition; Dopamine; Dopamine Antagonists; Double-Blind Method; Female; Haloperidol; Heart Rate; Humans; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Prolactin; Task Performance and Analysis; Tyrosine | 2004 |
A new, low-volume protein substitute for teenagers and adults with phenylketonuria.
Topics: Adolescent; Adult; Body Height; Body Weight; Child; Dietary Supplements; Electrolytes; Female; Hemoglobins; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Proteins; Trace Elements; Vitamins | 2004 |
The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings.
Topics: Female; Fetal Diseases; Gestational Age; Humans; Patient Compliance; Peer Group; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prenatal Care; Program Evaluation; Social Support | 2004 |
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biopterins; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Child, Preschool; Female; Genotype; Humans; Infant; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Pregnancy | 2004 |
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population.
Topics: Adolescent; Adult; Analysis of Variance; Attention; Case-Control Studies; Child; Child, Preschool; Chromatography, Ion Exchange; Cognition; Cross-Sectional Studies; Female; Follow-Up Studies; Humans; Intelligence; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Problem Solving; Psychomotor Performance; Spatial Behavior; Statistics, Nonparametric; Tyrosine; Verbal Behavior; Visual Perception | 2005 |
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Dose-Response Relationship, Drug; Humans; Infant; Los Angeles; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Texas; Tyrosine | 2005 |
Fat intakes of children with PKU on low phenylalanine diets.
Topics: alpha-Linolenic Acid; Child; Child, Preschool; Dietary Fats; Energy Intake; Fatty Acids, Essential; Female; Humans; Infant; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias | 2005 |
Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria.
Topics: Adult; Aged; Aged, 80 and over; Cross-Over Studies; Disabled Persons; Double-Blind Method; Female; Humans; Intelligence; Male; Middle Aged; Phenylalanine; Phenylketonurias; Placebos; Prospective Studies; Treatment Outcome | 2005 |
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria.
Topics: Developmental Disabilities; Double-Blind Method; Evoked Potentials, Visual; Fatty Acids, Unsaturated; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2006 |
Randomised controlled trial of essential fatty acid supplementation in phenylketonuria.
Topics: Child; Child, Preschool; Dietary Supplements; Erythrocytes; Fatty Acids, Essential; Female; Growth; Humans; Infant; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Prospective Studies; Treatment Outcome | 2006 |
Protein substitute dosage in PKU: how much do young patients need?
Topics: Child; Child, Preschool; Cross-Over Studies; Diet, Protein-Restricted; Dietary Proteins; Dose-Response Relationship, Drug; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2006 |
'Ready to drink' protein substitute is easier is for people with phenylketonuria.
Topics: Adolescent; Adult; Beverages; Child; Cross-Over Studies; Diet; Dietary Supplements; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Proteins; Tyrosine | 2006 |
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.
Topics: Adolescent; Adult; Amino Acids, Neutral; Child; Double-Blind Method; Female; Humans; Male; Osmolar Concentration; Phenylalanine; Phenylketonurias; Treatment Outcome | 2007 |
The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
Topics: Adult; Amino Acids, Neutral; Blood-Brain Barrier; Cross-Over Studies; Dietary Supplements; Double-Blind Method; Female; Humans; Magnetic Resonance Spectroscopy; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prospective Studies; Tyrosine | 2007 |
Brain phenylalanine measurement in patients with phenylketonuria: a serious diagnostic method or just reading tea leaves?
Topics: Adolescent; Adult; Brain; Child; Humans; Magnetic Resonance Spectroscopy; Phenylalanine; Phenylketonurias; Water | 2007 |
A neuropsychological profile of off-diet adults with phenylketonuria.
Topics: Adult; Case-Control Studies; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Problem Solving; Wechsler Scales | 2007 |
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
Topics: Adolescent; Adult; Biopterins; Child; Double-Blind Method; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Treatment Outcome | 2007 |
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child; Europe; Female; Humans; Male; Middle Aged; North America; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome; Up-Regulation | 2007 |
Phenylalanine intakes of 1- to 6-year-old children with phenylketonuria undergoing therapy.
Topics: Age Factors; Child; Child, Preschool; Dietary Carbohydrates; Dietary Fats; Dietary Proteins; Energy Intake; Female; Humans; Infant; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias; Sex Factors | 1983 |
Preliminary report on the effects of diet discontinuation in PKU.
Topics: Age Factors; Child; Educational Measurement; Female; Humans; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Random Allocation | 1982 |
Correlates of intelligence test results in treated phenylketonuric children.
Topics: Age Factors; Child; Evaluation Studies as Topic; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1981 |
Phenylketonuric patients decades after diet.
Topics: Adult; DNA; Education; Female; Follow-Up Studies; Humans; Intelligence Tests; Male; Mental Disorders; Phenylalanine; Phenylketonurias; Prognosis | 1995 |
Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.
Topics: Alleles; Child, Preschool; Chromosomes; Denmark; Genome; Humans; Mutation; Oligonucleotide Probes; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1993 |
Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria.
Topics: Dietary Proteins; Energy Metabolism; Growth Disorders; Humans; Infant; Infant Food; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1994 |
A new amino acid mixture permits new approaches to the treatment of phenylketonuria.
Topics: Amino Acids; Beverages; Child; Child Nutritional Physiological Phenomena; Child, Preschool; Food, Formulated; Humans; Nutrition Assessment; Patient Compliance; Phenylalanine; Phenylketonurias | 1994 |
Effect of L-dopa on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria.
Topics: Adult; Evoked Potentials, Visual; Frontal Lobe; Humans; Levodopa; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1994 |
Maternal PKU Collaborative Study: pregnancy outcome and postnatal head growth.
Topics: Canada; Female; Head; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prospective Studies; United States | 1994 |
Mutation screening versus gene scanning for genotyping phenylketonuria patients.
Topics: Alleles; Denmark; Genetic Testing; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Sicily | 1994 |
Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU.
Topics: Child; DNA; Genotype; Humans; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction | 1994 |
Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level.
Topics: Adolescent; Adult; Attention; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reaction Time; Wechsler Scales | 1994 |
Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria.
Topics: Adolescent; Adult; Brain; Cognition Disorders; Cross-Over Studies; Dose-Response Relationship, Drug; Double-Blind Method; Electroencephalography; Evoked Potentials, Visual; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Psychological Tests; Reaction Time; Tyrosine | 1995 |
Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the day.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet, Protein-Restricted; Energy Intake; Humans; Infant; Menu Planning; Phenylalanine; Phenylketonurias; Time Factors | 1996 |
Summary of findings from the United States Collaborative Study of children treated for phenylketonuria.
Topics: Child; Humans; Intelligence; Intelligence Tests; Multicenter Studies as Topic; Phenylalanine; Phenylketonurias; Prospective Studies; Randomized Controlled Trials as Topic; Time Factors; Treatment Outcome; United States | 1996 |
Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria.
Topics: Adolescent; Adult; Attention; Child; Cross-Sectional Studies; Female; Humans; Male; Mathematics; Mental Processes; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1996 |
Transitory hyperphenylalaninaemia in children with continuously treated phenylketonuria.
Topics: Adolescent; Analysis of Variance; Child; Child Behavior; Child Development; Cognition; Cross-Over Studies; Double-Blind Method; Female; Humans; Intelligence; Male; Memory; Phenylalanine; Phenylketonurias; Wechsler Scales | 1997 |
Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials.
Topics: Amino Acids; Blood Proteins; Child; Child, Preschool; Double-Blind Method; Female; Food Preferences; Food, Formulated; Humans; Male; Minerals; Patient Compliance; Phenylalanine; Phenylketonurias | 1997 |
A neurological evaluation of adult phenylketonuria in Northern Ireland.
Topics: Adolescent; Adult; Brain; Evoked Potentials, Somatosensory; Evoked Potentials, Visual; Female; Humans; Magnetic Resonance Imaging; Male; Northern Ireland; Phenylalanine; Phenylketonurias | 1998 |
Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria.
Topics: Adolescent; Child; Cross-Over Studies; Eating; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Outcome | 1998 |
Elevated serum prolactin concentrations in phenylketonuric patients on a 'loose diet'.
Topics: Adolescent; Diet; Dopamine; Epinephrine; Evaluation Studies as Topic; Female; Humans; Male; Norepinephrine; Phenylalanine; Phenylketonurias; Prolactin; Statistics, Nonparametric; Tyrosine | 1998 |
Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria.
Topics: Administration, Oral; Adolescent; Adult; Alanine; Child; Cross-Over Studies; Double-Blind Method; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Failure; Tyrosine | 1998 |
Breastfeeding in phenylketonuria.
Topics: Breast Feeding; Child Development; Female; Follow-Up Studies; Humans; Infant Food; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Norway; Phenylalanine; Phenylketonurias; Treatment Outcome | 1999 |
Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria.
Topics: Adolescent; Adult; Blood-Brain Barrier; Brain; Female; Genotype; Humans; Intelligence; Linear Models; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias; Protons; Severity of Illness Index | 2001 |
Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Child; Diet; Dietary Proteins; Female; Humans; Male; Patient Acceptance of Health Care; Phenylalanine; Phenylketonurias; Vitamins | 2001 |
Effects of diet and behavior therapy on social and motor behavior of retarded phenylketonuric adults: an experimental analysis.
Topics: Adult; Behavior Therapy; Clinical Trials as Topic; Double-Blind Method; Female; Humans; Male; Middle Aged; Motor Activity; Phenylalanine; Phenylketonurias; Social Behavior | 1978 |
Use of aspartame in phenylketonuric heteroxygous adults.
Topics: Adult; Aspartame; Clinical Trials as Topic; Dipeptides; Female; Heterozygote; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Placebos; Tyrosine | 1976 |
Termination of restricted diet in children with phenylketonuria: a randomized controlled study.
Topics: Body Height; Body Weight; Child; Child, Preschool; Clinical Trials as Topic; Female; Follow-Up Studies; Humans; Informed Consent; Intelligence Tests; Male; Methods; Phenylalanine; Phenylketonurias; Research Design | 1975 |
Effect of dietary aspartame on plasma concentrations of phenylalanine and tyrosine in normal and homozygous phenylketonuric patients.
Topics: Adolescent; Adult; Aspartame; Body Weight; Child; Female; Homozygote; Humans; Male; Phenylalanine; Phenylketonurias; Sweetening Agents; Tyrosine | 1992 |
Intellectual development in 12-year-old children treated for phenylketonuria.
Topics: Child; Child Development; Cognition; Female; Humans; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Regression Analysis; Socioeconomic Factors; Time Factors | 1991 |
Study design and description of patients.
Topics: Electroencephalography; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Multicenter Studies as Topic; Phenylalanine; Phenylketonurias; Research Design | 1990 |
Valine, isoleucine, and leucine. A new treatment for phenylketonuria.
Topics: Adolescent; Adult; Attention; Child; Double-Blind Method; Humans; Isoleucine; Language Tests; Leucine; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Valine | 1990 |
Repeated ingestion of aspartame-sweetened beverages: further observations in individuals heterozygous for phenylketonuria.
Topics: Adult; Amino Acids; Aspartame; Aspartic Acid; Beverages; Female; Heterozygote; Humans; Male; Methanol; Phenylalanine; Phenylketonurias | 1990 |
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.
Topics: Adolescent; Adult; Arousal; Clinical Trials as Topic; Dopamine; Double-Blind Method; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Phenylalanine; Phenylketonurias; Reaction Time; Tyrosine | 1987 |
The management of breast feeding among infants with phenylketonuria.
Topics: Breast Feeding; Child, Preschool; Clinical Trials as Topic; Female; Food, Formulated; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1989 |
Aspartame-sweetened beverage: effect on plasma amino acid concentrations in normal adults and adults heterozygous for phenylketonuria.
Topics: Adult; Amino Acids; Asparagine; Aspartame; Aspartic Acid; Beverages; Biological Transport; Dipeptides; Female; Glutamates; Glutamic Acid; Glutamine; Heterozygote; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
Repeated ingestion of aspartame-sweetened beverage: effect on plasma amino acid concentrations in individuals heterozygous for phenylketonuria.
Topics: Adult; Amino Acids; Aspartame; Beverages; Biological Transport; Dipeptides; Dose-Response Relationship, Drug; Female; Heterozygote; Humans; Male; Phenylalanine; Phenylketonurias; Random Allocation | 1989 |
Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets.
Topics: Adolescent; Female; Humans; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Random Allocation; Reaction Time | 1987 |
Psychiatric diagnosis and behavioral characteristics of phenylketonuric children.
Topics: Adjustment Disorders; Adolescent; Adult; Attention; Attention Deficit Disorder with Hyperactivity; Child; Depression; Double-Blind Method; Female; Humans; Male; Phenylalanine; Phenylketonurias; Placebos; Psychiatric Status Rating Scales; Psychological Tests | 1986 |
Phenylalanine alters the mean power frequency of electroencephalograms and plasma L-dopa in treated patients with phenylketonuria.
Topics: Adolescent; Analysis of Variance; Child; Double-Blind Method; Electroencephalography; Humans; Levodopa; Phenylalanine; Phenylketonurias; Regression Analysis | 1986 |
Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man.
Topics: Adolescent; Adult; Biological Transport; Brain; Child; Clinical Trials as Topic; Dopamine; Female; Humans; Kidney Tubules; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan; Tyrosine | 1985 |
Should dietary treatment of phenylketonuria be continued after infancy?
Topics: Adolescent; Adult; Age Factors; Blood-Brain Barrier; Child; Child, Preschool; Clinical Trials as Topic; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Psychological Tests | 1985 |
[Intravenous phenylalanine loading test in normal subjects and the parents of phenylketonuretics].
Topics: Adult; Clinical Trials as Topic; Female; Heterozygote; Humans; Infant; Infant, Newborn; Injections, Intravenous; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Sleep patterns in hyperphenylalaninemia: a lesson on serotonin to be learned from phenylketonuria.
Topics: Aminobutyrates; Brain; Child, Preschool; Clinical Trials as Topic; Diagnosis, Computer-Assisted; Diet Therapy; Electroencephalography; Electrophysiology; Eye Movements; Humans; Infant; Infant, Newborn; Mathematics; Movement; Phenylalanine; Phenylketonurias; Respiration; Serotonin; Sleep Stages; Sleep, REM | 1973 |
[Should older patients with PKU be diet treated?].
Topics: Adult; Age Factors; Diet Therapy; Female; Humans; Male; Phenylalanine; Phenylketonurias; Psychological Tests | 1974 |
Treatment of classical phenylketonuria.
Topics: Age Factors; Child; Clinical Trials as Topic; Diet Therapy; Eczema; Family; Female; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Psychological Tests; Psychotic Disorders; Reading | 1968 |
Management of transient hyperphenylalaninemia and tyrosinemia in low birth weight Negro infants fed high protein diets.
Topics: Ascorbic Acid; Birth Weight; Black People; Clinical Trials as Topic; Dietary Proteins; Humans; Infant, Newborn; Infant, Premature; Injections, Intramuscular; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1971 |
Immunologic responsiveness in phenylketonuria.
Topics: Child; Child, Preschool; Clinical Trials as Topic; Diet; Female; Humans; Immunosuppressive Agents; Infant; Male; Phenylalanine; Phenylketonurias | 1966 |
2343 other study(ies) available for phenylalanine and BH4 Deficiency
| Article | Year |
|---|---|
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Topics: Adolescent; Attention; Child; Cognition; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 2022 |
Protein status of people with phenylketonuria: a scoping review protocol.
Topics: Dietary Proteins; Humans; Nutrition Policy; Peer Review; Phenylalanine; Phenylketonurias; Research Design; Review Literature as Topic | 2021 |
Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy.
Topics: Animals; Brain; Disease Models, Animal; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Transcriptome | 2021 |
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
Topics: Adolescent; Adult; Biomarkers; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Eating; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Portugal; Practice Guidelines as Topic; Reference Standards; Reference Values; Retrospective Studies; Treatment Outcome; Young Adult | 2021 |
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry.
Topics: Adolescent; Adult; Child; Child, Preschool; Comorbidity; Diet; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Nutrition Assessment; Phenylalanine; Phenylketonurias; Registries; United States; Young Adult | 2021 |
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse.
Topics: Amino Acids; Animals; Brain; Brain Chemistry; Disease Models, Animal; Mice; Mice, Inbred C57BL; Neurotransmitter Agents; Phenylalanine; Phenylketonurias | 2021 |
Improvement of a synthetic live bacterial therapeutic for phenylketonuria with biosensor-enabled enzyme engineering.
Topics: Biological Therapy; Biosensing Techniques; Cinnamates; Escherichia coli; Escherichia coli Proteins; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Protein Engineering | 2021 |
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.
Topics: Adult; Austria; Female; Germany; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Syndrome | 2021 |
Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria.
Topics: Animals; Biomarkers; Brain; Disease Models, Animal; Down-Regulation; Gene Expression Profiling; Genetic Therapy; Liver; Male; Mice, Knockout; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Proteome; Proteomics; Transcriptome | 2021 |
Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.
Topics: Adult; Attention Deficit Disorder with Hyperactivity; Clinical Studies as Topic; Humans; Phenylalanine; Phenylketonurias | 2022 |
Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Amino Acids, Neutral; Diet; Dietary Supplements; Female; Humans; Italy; Male; Micronutrients; Phenylalanine; Phenylketonurias; Tyrosine; Young Adult | 2021 |
The impact on quality of life of diet restrictions and disease symptoms associated with phenylketonuria: a time trade-off and discrete choice experiment study.
Topics: Adult; Diet; Humans; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires | 2022 |
The Impact of Phenylketonuria on Body Composition in Adults.
Topics: Body Composition; Cross-Sectional Studies; Female; Humans; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Young Adult | 2022 |
Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.
Topics: Adult; Humans; Mental Health; Phenylalanine; Phenylketonurias; Retrospective Studies; United Kingdom | 2021 |
Preliminary Investigation of Microbiome and Dietary Differences in Patients with Phenylketonuria on Enzyme Substitution Therapy Compared to Traditional Therapies.
Topics: Adult; Cross-Sectional Studies; Diet; Enzyme Replacement Therapy; Gastrointestinal Microbiome; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2022 |
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations.
Topics: Amino Acids, Neutral; Animals; Dietary Supplements; Disease Models, Animal; Humans; Mice; Phenylalanine; Phenylketonurias | 2022 |
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
Topics: Biopterins; Child; Child, Preschool; Dystonia; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 2022 |
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.
Topics: Amino Acids; Animals; Bone and Bones; Bone Density; Brain; Caseins; Dietary Supplements; Disease Models, Animal; Female; Maze Learning; Mice; Mice, Inbred C57BL; Peptide Fragments; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin; Tyrosine | 2022 |
An enzyme cascade fluorescence-based assay for the quantification of phenylalanine in serum.
Topics: Chromatography, High Pressure Liquid; Enzyme Assays; Hematologic Tests; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 2022 |
Physicochemical Characterization and In Vitro Digestibility Study of an In Silico Designed Recombinant Protein Enriched with Large Neutral Amino Acids and Lacking Phenylalanine for Phenylketonuria.
Topics: Amino Acids, Neutral; Humans; Phenylalanine; Phenylketonurias; Pichia; Recombinant Proteins; Tandem Mass Spectrometry | 2022 |
Evaluation of patients with phenylalanine metabolism disorder: a single center experience.
Topics: Biopterins; Child; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies | 2022 |
Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study.
Topics: Body Mass Index; Cross-Sectional Studies; Disease Management; Female; Heterozygote; Humans; Infant; Large Neutral Amino Acid-Transporter 1; Male; Obesity; Overweight; Phenylalanine; Phenylketonurias; Polymorphism, Genetic; Retrospective Studies; Risk Factors | 2022 |
Perturbation of monoamine metabolism and enhanced fear responses in mice defective in the regeneration of tetrahydrobiopterin.
Topics: Animals; Biopterins; Dihydropteridine Reductase; Fear; Humans; Mice; Phenylalanine; Phenylketonurias | 2022 |
Neural correlates of working memory and its association with metabolic parameters in early-treated adults with phenylketonuria.
Topics: Adult; Cross-Sectional Studies; Humans; Memory, Short-Term; Phenylalanine; Phenylketonurias; Retrospective Studies; Tyrosine | 2022 |
Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
Topics: Humans; Intellectual Disability; Male; Microcephaly; Phenotype; Phenylalanine; Phenylketonurias | 2022 |
Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document.
Topics: Aged; Consensus; Dietetics; Humans; Phenylalanine; Phenylketonurias; United Kingdom | 2022 |
Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.
Topics: Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prospective Studies; Retrospective Studies | 2022 |
Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.
Topics: Adult; Animals; Cognition; Diet; Disease Models, Animal; Female; Humans; Mice; Mice, Inbred C57BL; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2022 |
Preformulation Studies with Phenylalanine Ammonia Lyase: Essential Prelude to a Microcapsule Formulation for the Management of Phenylketonuria.
Topics: Animals; Capsules; Dipeptides; Mice; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Serum Albumin, Bovine | 2022 |
Deubiquitinase USP19 enhances phenylalanine hydroxylase protein stability and its enzymatic activity.
Topics: Deubiquitinating Enzymes; Endopeptidases; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Stability; Ubiquitin-Protein Ligases | 2023 |
Oral administration of phenylalanine molecularly imprinted polymer (MIP) benefits PKU mouse model.
Topics: Administration, Oral; Animals; Disease Models, Animal; Mice; Molecularly Imprinted Polymers; Phenylalanine; Phenylketonurias | 2022 |
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids.
Topics: Female; Humans; Induced Pluripotent Stem Cells; Microcephaly; Organoids; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2022 |
Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase.
Topics: Calorimetry; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding | 2022 |
Biochemical Characterization of Novel Phenylalanine Ammonia-Lyase from Spirulina CPCC-695.
Topics: Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Spirulina; Substrate Specificity | 2022 |
[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency].
Topics: Aged; Biopterins; China; Consanguinity; Humans; Male; Mutation; Pedigree; Phenylalanine; Phenylketonurias | 2022 |
Recommendations on phenylketonuria in Turkey.
Topics: Amino Acids; Biopterins; Child; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Turkey | 2022 |
Expression of phenylalanine ammonia lyase as an intracellularly free and extracellularly cell surface-immobilized enzyme on a gut microbe as a live biotherapeutic for phenylketonuria.
Topics: Animals; Dietary Proteins; Enzymes, Immobilized; Gastrointestinal Microbiome; Mice; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias | 2023 |
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Topics: Animals; Asian People; Deubiquitinating Enzymes; Disease Progression; Endopeptidases; Humans; Mammals; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2022 |
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
Topics: Child; Child Behavior; Diet; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Retrospective Studies; Syndrome | 2022 |
Dysmyelination and glycolipid interference caused by phenylalanine in phenylketonuria.
Topics: Brain; Glycolipids; Humans; Phenylalanine; Phenylketonurias; Water | 2022 |
Quantitation of Phenylalanine in Dried Blood Spot Using Liquid Chromatography Tandem Mass Spectrometry for Monitoring of Patients with Phenylketonuria (PKU).
Topics: Chromatography, Liquid; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Solvents; Tandem Mass Spectrometry | 2022 |
Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.
Topics: Adult; Child; Choline; Female; Folic Acid; Humans; Methionine; Nutrition Surveys; Phenylalanine; Phenylketonurias; Pregnancy; Vitamin B 12; Vitamins | 2022 |
Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.
Topics: Breast Feeding; Female; Humans; Infant; Infant, Newborn; Milk, Human; Mothers; Phenylalanine; Phenylketonurias | 2022 |
Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.
Topics: Adolescent; Adult; Electromyography; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tremor; Young Adult | 2022 |
Growth and Nutritional Status of Phenylketonuric Children and Adolescents.
Topics: Adolescent; Child; Child, Preschool; Cholecalciferol; Cross-Sectional Studies; Female; Folic Acid; Humans; Iron; Nutritional Status; Obesity; Overweight; Phenylalanine; Phenylketonurias; Vitamin B 12; Vitamin D Deficiency | 2022 |
Outcomes in mild hyperphenylalaninemia: a comparison with PKU and healthy controls across cognition, behaviour, and quality of life.
Topics: Child; Cognition; Humans; New Zealand; Phenylalanine; Phenylketonurias; Quality of Life | 2022 |
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Topics: Adolescent; Adult; Brain; Child; Cognition; Expert Testimony; Humans; Phenylalanine; Phenylketonurias | 2022 |
The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria.
Topics: Adult; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Triglycerides; Waist Circumference | 2023 |
The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations.
Topics: Adult; Cognition; Executive Function; Female; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias | 2023 |
Phenylalanine free infant formula in the dietary management of phenylketonuria.
Topics: Humans; Infant; Infant Formula; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Proteins | 2023 |
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.
Topics: Cross-Sectional Studies; Humans; Laboratories; Phenylalanine; Phenylketonurias; Retrospective Studies | 2023 |
Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control.
Topics: Cluster Analysis; Disease Hotspot; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tandem Mass Spectrometry | 2023 |
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.
Topics: Adult; Cognition; Executive Function; Humans; Phenylalanine; Phenylketonurias; Quality of Life | 2023 |
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.
Topics: Birth Weight; Child; Diet; Family; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2023 |
Predicting factors of neurodevelopmental performance in children with phenylketonuria.
Topics: Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Retrospective Studies | 2023 |
Competitive, multi-objective, and compartmented Flux Balance Analysis for addressing tissue-specific inborn errors of metabolism.
Topics: Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 2023 |
Validation and application of volumetric absorptive microsampling (VAMS) dried blood method for phenylalanine measurement in patients with phenylketonuria.
Topics: Blood Specimen Collection; Dried Blood Spot Testing; Humans; Phenylalanine; Phenylketonurias; Tandem Mass Spectrometry | 2023 |
Two years of pegvaliase in Germany: Experiences and best practice recommendations.
Topics: Europe; Germany; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Retrospective Studies | 2023 |
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
Topics: Autism Spectrum Disorder; Biopterins; Homovanillic Acid; Humans; Infant, Newborn; Male; Movement Disorders; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Tyrosine | 2023 |
Increased cytokine levels induced by high phenylalanine concentrations in late diagnosis PKU patients compared to early diagnosis: Anti-inflammatory effect of L-carnitine.
Topics: Carnitine; Cytokines; Delayed Diagnosis; Humans; Infant, Newborn; Interleukin-2; Interleukin-6; Interleukin-8; Phenylalanine; Phenylketonurias; Tumor Necrosis Factor-alpha | 2023 |
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.
Topics: Aspartame; France; Humans; Phenylalanine; Phenylketonurias | 2023 |
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Topics: Child; Diet; Female; Humans; Infant, Newborn; Parturition; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies | 2023 |
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed.
Topics: Child; Diet; Humans; Levodopa; Phenylalanine; Phenylketonurias; Serotonin | 2023 |
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo
Topics: Genotype; Humans; Magnetic Resonance Spectroscopy; Phenotype; Phenylalanine; Phenylketonurias; Proton Magnetic Resonance Spectroscopy | 2023 |
Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet.
Topics: Adolescent; Bone Density; Chile; Diet; Hand Strength; Humans; Muscles; Phenylalanine; Phenylketonurias; Young Adult | 2023 |
Evaluation of the effect of obesity, dietary glycemic index and metabolic profiles on the cardiovascular risk in children with classical phenylketonuria.
Topics: Cardiovascular Diseases; Child; Cholesterol; Glucose; Glycemic Index; Heart Disease Risk Factors; Humans; Metabolome; Obesity; Phenylalanine; Phenylketonurias; Prospective Studies; Pulse Wave Analysis; Risk Factors | 2023 |
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria.
Topics: Adult; Cognition; Female; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Precision Medicine; Pregnancy | 2023 |
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.
Topics: Child; Diet; House Calls; Humans; Longitudinal Studies; Phenylalanine; Phenylketonurias | 2023 |
Health-related quality of life in a european sample of adults with early-treated classical PKU.
Topics: Adult; Cross-Sectional Studies; Female; Health Status; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Pregnancy; Quality of Life | 2023 |
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Topics: Biopterins; Diet; Humans; Infant; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life; Retrospective Studies | 2023 |
Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine.
Topics: Antioxidants; Becaplermin; Brain-Derived Neurotrophic Factor; Carnitine; Dietary Supplements; Humans; Phenylalanine; Phenylketonurias | 2023 |
The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders.
Topics: Animals; Dopamine; Neurodevelopmental Disorders; PC12 Cells; Phenylalanine; Phenylketonurias; Proteomics; Rats; Tyrosine; Tyrosine 3-Monooxygenase; Tyrosinemias | 2023 |
Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood.
Topics: Humans; Phenylalanine; Phenylketonurias; Point-of-Care Systems; Reproducibility of Results; Sensitivity and Specificity | 2023 |
Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.
Topics: Humans; Metabolism, Inborn Errors; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2024 |
Creatine nanoliposome reverts the HPA-induced damage in complex II-III activity of the rats' cerebral cortex.
Topics: Animals; Brain; Cerebral Cortex; Creatine; Creatine Kinase; Energy Metabolism; Female; Hippocampus; Liposomes; Male; Nanoparticles; Oxidation-Reduction; Oxidative Stress; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar | 2019 |
Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study.
Topics: Child, Preschool; Cohort Studies; Female; Humans; Infant; Infant, Newborn; Male; Odds Ratio; Patient Compliance; Phenylalanine; Phenylketonurias | 2019 |
Overweight in classical phenylketonuria children: A retrospective cohort study.
Topics: Adolescent; Body Mass Index; Body Weight; Child; Child, Preschool; Female; Humans; Male; Obesity; Odds Ratio; Overweight; Phenylalanine; Phenylketonurias; Retrospective Studies; Social Class | 2019 |
Investigation of paediatric PKU breath malodour, comparing glycomacropeptide with phenylalanine free L-amino acid supplements.
Topics: Adolescent; Breath Tests; Caseins; Child; Confounding Factors, Epidemiologic; Cross-Over Studies; Dietary Supplements; Exhalation; Female; Gas Chromatography-Mass Spectrometry; Humans; Longitudinal Studies; Male; Peptide Fragments; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; Volatile Organic Compounds | 2019 |
Improved Eating Behaviour and Nutrient Intake in Noncompliant Patients with Phenylketonuria after Reintroducing a Protein Substitute: Observations from a Multicentre Study.
Topics: Adult; Diet, Protein-Restricted; Dietary Proteins; Energy Intake; Feeding Behavior; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Treatment Outcome | 2019 |
Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability.
Topics: Catalytic Domain; Humans; Models, Molecular; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; Protein Conformation; Scattering, Small Angle; Structure-Activity Relationship; X-Rays | 2019 |
The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult
Topics: Amino Acids, Neutral; Animal Feed; Animals; Brain; Diet; Dietary Supplements; Female; Male; Mice; Mice, Inbred C57BL; Phenylalanine; Phenylketonurias | 2019 |
[Early diagnosis of phenylketonuria. Physiopathology of the neuronal damage and therapeutic options].
Topics: Biopterins; Diet Therapy; Early Diagnosis; Humans; Neurons; Phenylalanine; Phenylketonurias; Tyrosine | 2019 |
Phenylalanine Monitoring via Aptamer-Field-Effect Transistor Sensors.
Topics: Animals; Aptamers, Nucleotide; DNA; Electrochemical Techniques; Fenclonine; Mice; Phenylalanine; Phenylketonurias; Transistors, Electronic | 2019 |
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Topics: Amino Acids; Animals; Biomarkers; Biosynthetic Pathways; Brain; Disease Models, Animal; Humans; Male; Mice; Mice, Knockout; Mutation; Neurotransmitter Agents; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins; Treatment Outcome | 2019 |
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
Topics: Adolescent; Adult; Brain; Child; Delayed Diagnosis; Female; Humans; Individuality; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2019 |
Mealtime Anxiety and Coping Behaviour in Parents and Children During Weaning in PKU: A Case-Control Study.
Topics: Adaptation, Psychological; Anxiety; Child, Preschool; Female; Health Surveys; Humans; Infant; Longitudinal Studies; Male; Meals; Parents; Phenylalanine; Phenylketonurias; Prospective Studies; Surveys and Questionnaires; Weaning | 2019 |
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels.
Topics: Adult; Cognition; Cognitive Dysfunction; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Young Adult | 2019 |
Management of three preterm infants with phenylketonuria.
Topics: Amino Acids; Dietary Proteins; Enteral Nutrition; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Infant, Very Low Birth Weight; Male; Parenteral Nutrition; Phenylalanine; Phenylketonurias | 2020 |
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
Topics: Adolescent; Adult; Biopterins; Child; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Standard of Care | 2020 |
Metabolic and catecholamine response to sympathetic stimulation in early-treated adult male patients with phenylketonuria.
Topics: Adolescent; Adult; Epinephrine; Humans; Male; Norepinephrine; Phenylalanine; Phenylketonurias; Physical Exertion; Stress, Physiological; Sympathetic Nervous System; Tyrosine; Young Adult | 2020 |
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.
Topics: Amino Acids; Dried Blood Spot Testing; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 2020 |
Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria.
Topics: Adolescent; Adult; Amino Acids, Neutral; Arousal; Attention; Brain; Cognition; Dietary Supplements; Executive Function; Female; Humans; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2020 |
Saccadic reaction time and ocular findings in phenylketonuria.
Topics: Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Reaction Time; Saccades | 2020 |
Capture of Phenylalanine and Phenylalanine-Terminated Peptides Using a Supramolecular Macrocycle for Surface-Enhanced Raman Scattering Detection.
Topics: Diabetes Mellitus; Humans; Macrocyclic Compounds; Metal Nanoparticles; Peptides; Phenylalanine; Phenylketonurias; Silver; Spectrum Analysis, Raman | 2020 |
Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.
Topics: Aspartame; Carbonated Beverages; Chromatography, Liquid; Diketopiperazines; Dipeptides; Europe; Food Safety; Humans; Limit of Detection; Phenylalanine; Phenylketonurias; Reproducibility of Results; Tandem Mass Spectrometry | 2020 |
Neonatal phenylalanine wash-out in phenylketonuria.
Topics: Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Retrospective Studies | 2020 |
The Genetic Landscape and Epidemiology of Phenylketonuria.
Topics: Alleles; Biopterins; Europe; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2020 |
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.
Topics: Adult; Amino Acids, Neutral; Cholestyramine Resin; Cohort Studies; Dietary Proteins; Dietary Supplements; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires; Treatment Adherence and Compliance; Treatment Outcome; Young Adult | 2020 |
Uniformity of Food Protein Interpretation Amongst Dietitians for Patients with Phenylketonuria (PKU): 2020 UK National Consensus Statements.
Topics: Consensus; Delphi Technique; Diet, Protein-Restricted; Dietary Proteins; Dietetics; Food Labeling; Humans; Phenylalanine; Phenylketonurias; United Kingdom | 2020 |
L-phenylalanine-imprinted polydopamine-coated CdS/CdSe n-n type II heterojunction as an ultrasensitive photoelectrochemical biosensor for the PKU monitoring.
Topics: Biosensing Techniques; Cadmium Compounds; Electrochemical Techniques; Humans; Indoles; Limit of Detection; Phenylalanine; Phenylketonurias; Polymers; Selenium Compounds | 2020 |
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.
Topics: Adult; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Repressor Proteins; Tyrosine | 2020 |
Preliminary Investigation to Review If a Glycomacropeptide Compared to L-Amino Acid Protein Substitute Alters the Pre- and Postprandial Amino Acid Profile in Children with Phenylketonuria.
Topics: Adolescent; Age Factors; Amino Acids; Caseins; Child; Child, Preschool; Female; Humans; Insulin; Male; Nitrogen; Peptide Fragments; Phenylalanine; Phenylketonurias; Postprandial Period; Time Factors; Urea | 2020 |
The Impact of the Use of Glycomacropeptide on Satiety and Dietary Intake in Phenylketonuria.
Topics: Adolescent; Amino Acids; Anthropometry; Body Mass Index; Body Weight; Caseins; Child; Child, Preschool; Diet Surveys; Diet, Protein-Restricted; Energy Intake; Female; Glycopeptides; Humans; Longitudinal Studies; Male; Nutrients; Phenylalanine; Phenylketonurias; Prospective Studies; Satiation | 2020 |
Aging-Dependent Morphological Crystallinity Determines Membrane Activity of l-Phenylalanine Self-Assembles.
Topics: Age Factors; Amyloid; Crystallization; Humans; Hydrogen Bonding; Optical Imaging; Phenylalanine; Phenylketonurias; Protein Binding; Protein Conformation; Protein Folding; Protein Multimerization; Temperature; Thermodynamics | 2020 |
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study.
Topics: Activities of Daily Living; Adolescent; Adult; Amino Acids; Cross-Sectional Studies; Depression; Diet, Protein-Restricted; Dietary Supplements; Feeding Behavior; Female; Health Status; Humans; Male; Middle Aged; Patient Compliance; Phenylalanine; Phenylketonurias; Prevalence; Quality of Life; Surveys and Questionnaires; Young Adult | 2020 |
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.
Topics: Adolescent; Adult; Cognition; Cognitive Dysfunction; Cross-Cultural Comparison; Female; Humans; Italy; Language; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Reproducibility of Results; United Kingdom; White People; Young Adult | 2020 |
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Topics: Animals; CRISPR-Cas Systems; Disease Models, Animal; Exons; Gene Editing; Genetic Vectors; Humans; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2020 |
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.
Topics: Adolescent; Adult; Animals; CRISPR-Cas Systems; Diet; Disease Models, Animal; Gene Editing; Humans; Liver; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Swine | 2020 |
Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Topics: Adult; Atrophy; Cognition; Cross-Sectional Studies; Evoked Potentials, Motor; Female; Humans; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prospective Studies; Putamen; Thalamus | 2021 |
Repeat-dose animal toxicity studies and genotoxicity study with deactivated alkaline serine protease (DASP), a protein low in phenylalanine (PHE).
Topics: Animals; Diet; Disease Models, Animal; Drug Administration Schedule; Escherichia coli; Female; Humans; Male; Mutagenicity Tests; Phenylalanine; Phenylketonurias; Rats; Rats, Sprague-Dawley; Salmonella typhimurium; Serine Endopeptidases | 2020 |
Benchmark Examination of Blood Amino Acids Patterns in Phenylketonuria Neonates and Young Children on Phenylalanine-Restricted Dietary Treatment.
Topics: Arginine; Benchmarking; Child; Child, Preschool; Citrulline; Diet; Humans; Infant, Newborn; Methionine; Phenylalanine; Phenylketonurias; Proline; Tyrosine; Valine | 2022 |
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Female; Homovanillic Acid; Humans; Indoles; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Prolactin | 2020 |
True Restriction in Diffusion-Weighted Imaging in a Mistreated Patient With Phenylketonuria.
Topics: Adult; Cognitive Dysfunction; Diffusion Magnetic Resonance Imaging; Female; Humans; Patient Compliance; Phenylalanine; Phenylketonurias; Young Adult | 2020 |
Guide for diagnosis and treatment of hyperphenylalaninemia.
Topics: Biopterins; Female; Humans; Japan; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2021 |
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study.
Topics: Adult; Cognition; Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies | 2021 |
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Topics: Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Persons with Mental Disabilities; Phenylalanine; Phenylketonurias | 2021 |
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
Topics: Chromatography, Liquid; Female; Humans; Male; Morocco; Phenylalanine; Phenylketonurias; Tandem Mass Spectrometry | 2021 |
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pah
Topics: Alkaline Phosphatase; Animals; Bone Density; Bone Diseases, Metabolic; Cell Differentiation; Disease Models, Animal; Humans; Mesenchymal Stem Cells; Mice; Osteoblasts; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Resveratrol | 2021 |
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.
Topics: Biopterins; Canada; Europe; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; United States | 2021 |
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA.
Topics: Adolescent; Anthropometry; Body Composition; Case-Control Studies; Child; Child, Preschool; Cohort Studies; Demography; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Nutritional Status; Overweight; Phenylalanine; Phenylketonurias; Retrospective Studies; Socioeconomic Factors | 2021 |
Phenylketonuria and juvenile idiopathic arthritis: a case report.
Topics: Adrenal Cortex Hormones; Anti-Inflammatory Agents, Non-Steroidal; Arthritis, Juvenile; Child, Preschool; Female; Humans; Phenylalanine; Phenylketonurias | 2021 |
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Topics: Adolescent; Brazil; Child; Diet; Female; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2021 |
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Topics: Catalytic Domain; Electron Spin Resonance Spectroscopy; Fluorometry; HEK293 Cells; Humans; Metabolic Diseases; Models, Molecular; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quinolones; Surface Plasmon Resonance; Trypsin | 2021 |
Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children.
Topics: Child; Diet; Dietary Supplements; Fatty Acids, Unsaturated; Humans; Phenylalanine; Phenylketonurias | 2021 |
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Topics: Amyloid; Animals; Autophagy; Biomarkers; Body Weight; Breeding; Female; Gene Expression Regulation; Genotype; Lipid Metabolism; Liver; Male; Metabolome; Mice; Mutant Proteins; Mutation; Neurotransmitter Agents; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Aggregates; Pterins; Respiration; RNA, Messenger; Ubiquitin; Ubiquitination | 2021 |
Use of an adeno-associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model.
Topics: Animals; Cell Line; Dependovirus; Disease Models, Animal; DNA, Recombinant; Female; Genetic Therapy; Genetic Vectors; Hair Color; Humans; Injections, Intravenous; Liver; Male; Mice; Mice, Inbred C57BL; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Transduction, Genetic | 2021 |
Growth and Body Composition in PKU Children-A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes.
Topics: Absorptiometry, Photon; Adolescent; Amino Acids; Body Composition; Body Height; Caseins; Child; Child, Preschool; Dietary Proteins; Dietary Supplements; Female; Growth; Humans; Longitudinal Studies; Male; Peptide Fragments; Phenylalanine; Phenylketonurias; Prospective Studies; Treatment Outcome | 2021 |
Characterization of an engineered live bacterial therapeutic for the treatment of phenylketonuria in a human gut-on-a-chip.
Topics: Animals; Bacteria; Biological Therapy; Caco-2 Cells; Computer Simulation; Escherichia coli; Gastrointestinal Microbiome; Genetic Engineering; HT29 Cells; Humans; In Vitro Techniques; Lab-On-A-Chip Devices; Microfluidics; Models, Biological; Phenylalanine; Phenylketonurias; Primates; Synthetic Biology | 2021 |
Palynziq clinic: One year and 43 patients later.
Topics: Adolescent; Adult; Ambulatory Care Facilities; Anaphylaxis; Consensus; Drug-Related Side Effects and Adverse Reactions; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Young Adult | 2021 |
Nutrition status of adults with phenylketonuria treated with pegvaliase.
Topics: Adult; Cross-Sectional Studies; Diet; Dietary Proteins; Fatty Acids, Essential; Female; Humans; Male; Micronutrients; Middle Aged; Nutritional Status; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Surveys and Questionnaires | 2021 |
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.
Topics: Adult; Attention; Case-Control Studies; Cognition; Emotions; Executive Function; Female; Humans; Inhibition, Psychological; Language Tests; Male; Memory, Short-Term; Mental Health; Middle Aged; Phenylalanine; Phenylketonurias; Quality of Life; United Kingdom; Young Adult | 2021 |
The Impact of the First 2020 COVID-19 Lockdown on the Metabolic Control of Patients with Phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Communicable Disease Control; COVID-19; Feeding Behavior; Female; Health Behavior; Hematologic Tests; Humans; Infant; Male; Pandemics; Patient Compliance; Phenylalanine; Phenylketonurias; Poland; SARS-CoV-2 | 2021 |
L-carnitine protects DNA oxidative damage induced by phenylalanine and its keto acid derivatives in neural cells: a possible pathomechanism and adjuvant therapy for brain injury in phenylketonuria.
Topics: Brain Injuries; Carnitine; Humans; Keto Acids; Oxidative Stress; Phenylalanine; Phenylketonurias | 2021 |
Extremely low birthweight neonates with phenylketonuria require special dietary management.
Topics: Birth Weight; Humans; Infant; Infant, Newborn; Neonatal Screening; Parenteral Nutrition; Phenylalanine; Phenylketonurias | 2021 |
Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.
Topics: Biopterins; Child, Preschool; Female; Humans; Japan; Male; Phenylalanine; Phenylketonurias; Pregnancy; Product Surveillance, Postmarketing | 2022 |
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Topics: Acetylgalactosamine; Animals; Biopterins; Diet; Disease Models, Animal; Female; Hepatocytes; Humans; Liver; Male; Mice; Mice, Knockout; Nucleic Acid Conformation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; RNA, Long Noncoding | 2021 |
Phenylalanine Interacts with Oleic Acid-Based Vesicle Membrane. Understanding the Molecular Role of Fibril-Vesicle Interaction under the Context of Phenylketonuria.
Topics: Humans; Oleic Acid; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 2021 |
A New View of Bone Loss in Phenylketonuria.
Topics: Animals; Bone Diseases, Metabolic; Disease Models, Animal; Humans; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2021 |
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Topics: Adult; Child; Diet; Disease Management; Food Labeling; Food, Formulated; Health Personnel; Health Surveys; Humans; Infant; Infant, Newborn; Latin America; Neonatal Screening; Phenylalanine; Phenylketonurias | 2021 |
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
Topics: Adolescent; Adult; Attention; Biopterins; Cognition; Depression; Executive Function; Female; Health Status; Humans; Inhibition, Psychological; Intelligence Tests; Male; Memory, Short-Term; Mental Health; Personality Disorders; Phenylalanine; Phenylketonurias; Self Report; Young Adult | 2017 |
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
Topics: Adolescent; Adult; Bone and Bones; Bone Density; Child; Child, Preschool; Cross-Sectional Studies; Dietary Proteins; Erythrocytes; Fatty Acids, Essential; Female; Humans; Infant; Male; Micronutrients; Nutrition Assessment; Nutritional Status; Phenylalanine; Phenylketonurias; Selenium; Vitamin D; Young Adult | 2017 |
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
Topics: 5' Untranslated Regions; Alleles; Case-Control Studies; CpG Islands; DNA Methylation; Female; Humans; Infant, Newborn; Male; Nucleic Acid Denaturation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Promoter Regions, Genetic; Sequence Analysis, DNA | 2017 |
Work activity and phenylalanine levels in a population of young adults with classic PKU.
Topics: Adult; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Work; Young Adult | 2017 |
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels.
Topics: Adolescent; Child; Female; Humans; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2017 |
Class enzyme-based motors for "on the fly" enantiomer analysis of amino acids.
Topics: Amino Acids; Biosensing Techniques; Cholera; D-Amino-Acid Oxidase; Humans; Infant, Newborn; L-Amino Acid Oxidase; Phenylalanine; Phenylketonurias; Stereoisomerism; Vibrio cholerae | 2017 |
Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase).
Topics: Animals; Brain; Disease Models, Animal; Humans; Mice; Neurotransmitter Agents; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Tyrosine 3-Monooxygenase | 2017 |
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Topics: Anabaena variabilis; Animals; Bacterial Proteins; Intestinal Mucosa; Intestines; Limosilactobacillus reuteri; Mice; Mice, Inbred C57BL; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Probiotics | 2017 |
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biomarkers; Biopterins; Case-Control Studies; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Multivariate Analysis; Neopterin; Phenylalanine; Phenylketonurias; Retrospective Studies; Tyrosine; Young Adult | 2017 |
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.
Topics: Adolescent; Adult; Biogenic Monoamines; Brain; Case-Control Studies; Cognition; Cognition Disorders; Dopamine; Executive Function; Female; Humans; Impulsive Behavior; Longitudinal Studies; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Receptors, Dopamine D2; Young Adult | 2017 |
Nano-Calorimetry based point of care biosensor for metabolic disease management.
Topics: Biosensing Techniques; Calorimetry; Equipment Design; Limit of Detection; Nanotechnology; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Point-of-Care Systems | 2017 |
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Topics: Biopterins; DNA Mutational Analysis; Early Diagnosis; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2017 |
The relationship between dietary intake, growth and body composition in Phenylketonuria.
Topics: Adolescent; Amino Acids; Anthropometry; Body Composition; Body Height; Body Mass Index; Body Weight; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2017 |
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Topics: Adolescent; Adult; Child; Cognition; Executive Function; Female; Follow-Up Studies; Humans; Male; Mental Health; Motor Activity; Netherlands; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2017 |
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria.
Topics: Adolescent; Child; Female; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Wechsler Scales | 2017 |
Intrinsic property of phenylalanine to trigger protein aggregation and hemolysis has a direct relevance to phenylketonuria.
Topics: Amyloid; Erythrocytes; Hemolysis; Humans; Phenylalanine; Phenylketonurias; Protein Aggregates; Protein Aggregation, Pathological; Temperature | 2017 |
Fifteen years of using a second stage protein substitute for weaning in phenylketonuria: a retrospective study.
Topics: Anthropometry; Child, Preschool; Diet; Dietary Proteins; Dietary Supplements; Female; Foods, Specialized; Humans; Infant; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Time Factors; Weaning | 2018 |
Phenylalanine Increases Membrane Permeability.
Topics: 1,2-Dipalmitoylphosphatidylcholine; Cell Membrane Permeability; Humans; Phenylalanine; Phenylketonurias; Ribose; Unilamellar Liposomes | 2017 |
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Humans; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Research Design; Retrospective Studies; Young Adult | 2017 |
A facile method for urinary phenylalanine measurement on paper-based lab-on-chip for PKU therapy monitoring.
Topics: Hematologic Tests; Humans; Lab-On-A-Chip Devices; Paper; Phenylalanine; Phenylketonurias | 2017 |
High Fracture Rates in Young Patients with Phenylketonuria.
Topics: Bone Density; Fatty Acids, Essential; Humans; Micronutrients; Phenylalanine; Phenylketonurias | 2018 |
Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient.
Topics: Cell Line; Genetic Vectors; Humans; Induced Pluripotent Stem Cells; Infant; Leukocytes, Mononuclear; Male; Phenylalanine; Phenylketonurias; Point Mutation; Sendai virus; Virus Integration | 2017 |
Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice.
Topics: Amino Acids, Neutral; Animals; Biogenic Monoamines; Brain; Dietary Supplements; Disease Models, Animal; Eating; Female; Male; Mice, Inbred C57BL; Mice, Mutant Strains; Phenylalanine; Phenylketonurias | 2018 |
AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria.
Topics: AMP-Activated Protein Kinases; Animals; Cerebral Cortex; Female; Male; Mice; Models, Theoretical; Neurons; Phenylalanine; Phenylketonurias; Phosphorylation; Primary Cell Culture; Rats; Rats, Sprague-Dawley | 2018 |
Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients.
Topics: Adolescent; Age Factors; Analysis of Variance; Brazil; Child; Female; Humans; Intelligence Tests; Linear Models; Male; Parents; Phenylalanine; Phenylketonurias; Proxy; Quality of Life; Secondary Prevention; Self Report; Socioeconomic Factors; Time Factors; Treatment Adherence and Compliance; Treatment Outcome | 2017 |
Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients.
Topics: Case-Control Studies; Female; Humans; Oxidative Stress; Phenylalanine; Phenylketonurias; Pregnancy | 2018 |
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.
Topics: Animals; Central Nervous System Diseases; Cognitive Dysfunction; Disease Models, Animal; Dopamine; Humans; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase | 2018 |
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Topics: Animals; Biopterins; Disease Models, Animal; Humans; Inactivation, Metabolic; Kinetics; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Proteostasis | 2018 |
50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia.
Topics: Child; Child, Preschool; Female; Gene-Environment Interaction; History, 20th Century; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Severity of Illness Index | 2018 |
A new therapy prevents intellectual disability in mouse with phenylketonuria.
Topics: Administration, Intravenous; Anabaena; Animals; Brain Chemistry; Disease Models, Animal; Drug Delivery Systems; Drug Evaluation, Preclinical; Erythrocytes; Female; Intellectual Disability; Male; Mice; Mice, Knockout; Motor Activity; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2018 |
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).
Topics: Aptamers, Nucleotide; Biological Assay; Humans; Phenylalanine; Phenylketonurias | 2018 |
Carbohydrate status in patients with phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Biopterins; Body Mass Index; Carbohydrate Metabolism; Child; Child, Preschool; Cross-Sectional Studies; Dietary Supplements; Female; Humans; Insulin Resistance; Male; Middle Aged; Multicenter Studies as Topic; Phenylalanine; Phenylketonurias; Postprandial Period; Young Adult | 2018 |
Genetically modified bacteria enlisted in fight against disease.
Topics: Animals; Bacteria; Bacteroides; Biological Therapy; Clinical Trials as Topic; Colitis; Escherichia coli; Gene Transfer, Horizontal; HIV Infections; Humans; Lactobacillus; Lactococcus lactis; Mice; Phenylalanine; Phenylketonurias | 2018 |
The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients.
Topics: Adult; Cognition; Cross-Sectional Studies; Executive Function; Female; Humans; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Reaction Time; Young Adult | 2018 |
Paper-based enzymatic platform coupled to screen printed graphene-modified electrode for the fast neonatal screening of phenylketonuria.
Topics: Amino Acid Oxidoreductases; Electrodes; Graphite; Humans; Infant, Newborn; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias | 2018 |
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Topics: Adolescent; Adult; Age Factors; Biopterins; Child; Cognition; Diet; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires; Young Adult | 2018 |
Inhibiting neutral amino acid transport for the treatment of phenylketonuria.
Topics: Amines; Amino Acid Transport Systems, Neutral; Amino Acids, Neutral; Animals; Astrocytes; Biological Transport; Brain; Disease Models, Animal; Female; Gene Expression Regulation; Genetic Diseases, Inborn; Kidney Tubules, Proximal; Male; Memory, Short-Term; Mice; Mice, Knockout; Morpholinos; Oligonucleotides; Phenylalanine; Phenylketonurias; Renal Reabsorption | 2018 |
Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels.
Topics: Adolescent; Child; Child Development; Cognition; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2019 |
Assessment of antioxidant enzymes, total sialic acid, lipid bound sialic acid, vitamins and selected amino acids in children with phenylketonuria.
Topics: 2-Aminoadipic Acid; alpha-Tocopherol; Amino Acids; Antioxidants; Case-Control Studies; Catalase; Child; Cholecalciferol; Erythrocytes; Female; Glutathione Peroxidase; Humans; Lipid Peroxidation; Lipids; Male; Malondialdehyde; N-Acetylneuraminic Acid; Oxidative Stress; Phenylalanine; Phenylketonurias; Regression Analysis; Superoxide Dismutase; Vitamin A; Vitamin K 1; Vitamins | 2018 |
Semisynthetic sensor proteins enable metabolic assays at the point of care.
Topics: Bioluminescence Resonance Energy Transfer Techniques; Biosensing Techniques; Blood Glucose; Escherichia coli Proteins; Glutamic Acid; Humans; Monitoring, Physiologic; NADP; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Point-of-Care Testing; Tetrahydrofolate Dehydrogenase | 2018 |
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Topics: Adult; Cohort Studies; Comorbidity; Female; Health Care Costs; Humans; Infant, Newborn; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; United States; Young Adult | 2018 |
Transcription factor-based biosensor for detection of phenylalanine and tyrosine in urine for diagnosis of phenylketonuria.
Topics: Biosensing Techniques; Chromatography, High Pressure Liquid; Escherichia coli; Escherichia coli Proteins; Humans; Luminescent Proteins; Phenylalanine; Phenylketonurias; Repressor Proteins; Spectrometry, Mass, Electrospray Ionization; Transcription Factors; Tyrosine | 2018 |
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Topics: China; Female; Gene Frequency; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies | 2018 |
Transient phenylketonuria in premature infants.
Topics: Breast Feeding; Food, Fortified; Humans; Hydroxylation; Infant, Newborn; Infant, Premature; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2019 |
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Topics: Adolescent; Adult; Child; Dose-Response Relationship, Drug; Humans; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins; Young Adult | 2019 |
Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up.
Topics: Adult; Age Factors; Attention; Brain; Cognition; Cognition Disorders; Diet; Female; Follow-Up Studies; Humans; Intelligence; Longitudinal Studies; Male; Mental Status and Dementia Tests; Middle Aged; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2019 |
Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU.
Topics: Consensus; Delphi Technique; Food Labeling; Humans; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2019 |
Gene Editing Successfully Corrects 2 Amino Acid Disorders: In 2 preclinical studies using CRISPR-mediated gene editing, phenylketonuria and hereditary tyrosinemia type 1 were corrected.
Topics: Amino Acids; Animals; CRISPR-Cas Systems; Disease Models, Animal; Gene Editing; Humans; Hydrolases; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine; Tyrosinemias | 2019 |
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).
Topics: Age Factors; Animals; Behavior, Animal; Brain; Disease Models, Animal; Female; Learning; Male; Memory; Mice; Mice, Knockout; Neurotransmitter Agents; Nutrients; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2019 |
Casein-derived peptides as an alternative ingredient for low-phenylalanine diets.
Topics: Amino Acids; Caseins; Diet; Humans; Peptides; Phenylalanine; Phenylketonurias | 2019 |
Can the Microbiome Deliver? A Proof-of-Concept Engineered E. coli PKU Therapeutic.
Topics: Brain; Escherichia coli; Humans; Microbiota; Phenylalanine; Phenylketonurias | 2019 |
A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.
Topics: Adolescent; Adult; Biomarkers; Dietary Supplements; Exercise Therapy; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prognosis; Young Adult | 2019 |
GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
Topics: Brain; Consanguinity; Fever; GTP Cyclohydrolase; Humans; Infant; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Recurrence; Sri Lanka; Vomiting | 2019 |
[Consensus statement on dietary treatment and nutritional management for phenylalanine hydroxylase deficiency].
Topics: Consensus; Humans; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic | 2019 |
The Association of Therapy Adherence and Thyroid Function in Adult Patients with Phenylketonuria.
Topics: Adult; Case-Control Studies; Diet, Protein-Restricted; Female; Humans; Hungary; Iodine; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Prospective Studies; Selenium; Thyroglobulin; Thyroid Gland; Thyrotropin; Thyroxine; Young Adult | 2019 |
Creatine plus pyruvate supplementation prevents oxidative stress and phosphotransfer network disturbances in the brain of rats subjected to chemically-induced phenylketonuria.
Topics: Animals; Antioxidants; Blood-Brain Barrier; Brain; Creatine; Disease Models, Animal; Energy Metabolism; Oxidative Stress; Phenylalanine; Phenylketonurias; Pyruvic Acid; Rats; Rats, Wistar; Reactive Oxygen Species | 2019 |
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
Topics: Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Treatment Outcome | 2013 |
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.
Topics: Adult; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications; Retrospective Studies | 2013 |
Body mass index in adult patients with diet-treated phenylketonuria.
Topics: Adult; Age Factors; Body Mass Index; Female; Humans; Male; Obesity; Phenylalanine; Phenylketonurias; Prevalence; Retrospective Studies; Sex Factors; United Kingdom; Young Adult | 2013 |
Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy.
Topics: Adolescent; Age Factors; Child; Cognition Disorders; Decision Making; Executive Function; Female; Humans; Inhibition, Psychological; Intention; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Reaction Time; Regression Analysis | 2013 |
White matter integrity and executive abilities in individuals with phenylketonuria.
Topics: Adolescent; Adult; Case-Control Studies; Cerebral Cortex; Child; Cognition; Diffusion Tensor Imaging; Female; Humans; Intelligence; Male; Memory, Short-Term; Neuroimaging; Phenylalanine; Phenylketonurias; Young Adult | 2013 |
NOX, the main regulator in oxidative stress in experimental models of phenylketonuria?
Topics: Animals; Disease Models, Animal; Glutathione; Mice; NADPH Oxidases; Oxidative Stress; Phenylalanine; Phenylketonurias; Superoxides | 2013 |
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Topics: Biopterins; DNA Mutational Analysis; GTP Cyclohydrolase; Humans; Infant, Newborn; Japan; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Point Mutation; Time Factors; Treatment Outcome | 2014 |
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
Topics: Administration, Oral; Adult; Circadian Rhythm; Diet; Female; Humans; Male; Meals; Microdialysis; Motor Activity; Phenylalanine; Phenylketonurias; Subcutaneous Tissue; Tyrosine; Young Adult | 2013 |
Amino acid analysis of dried blood spots for diagnosis of phenylketonuria using capillary electrophoresis-mass spectrometry equipped with a sheathless electrospray ionization interface.
Topics: Amino Acids; Dried Blood Spot Testing; Electrophoresis, Capillary; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Tyrosine | 2013 |
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet; Europe; Follow-Up Studies; Genotype; Humans; Infant; Middle Aged; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Retrospective Studies; Surveys and Questionnaires; Treatment Outcome; Young Adult | 2013 |
Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.
Topics: Dried Blood Spot Testing; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tandem Mass Spectrometry; Tyrosine | 2013 |
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.
Topics: Biopterins; Body Composition; Body Height; Body Mass Index; Body Weight; Diet; Follow-Up Studies; Humans; Phenylalanine; Phenylketonurias | 2013 |
Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established phenylketonuria.
Topics: Adult; Diet; Female; Humans; Nervous System Diseases; Phenylalanine; Phenylketonurias; Time Factors | 2013 |
Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice.
Topics: Animals; Drug Delivery Systems; Enzyme Replacement Therapy; Erythrocytes; Hemoglobins; Humans; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2013 |
Is there a standard meal plan for phenylketonuria (PKU)?
Topics: Diet; Dietary Proteins; Energy Intake; Humans; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2013 |
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Brain; Case-Control Studies; Child; Diffusion Tensor Imaging; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2013 |
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Topics: Alleles; Asian People; China; Exons; Genetic Association Studies; Genetic Loci; Genomics; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2013 |
The Fas/Fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.
Topics: Animals; Apoptosis; Cells, Cultured; Cerebral Cortex; Endoplasmic Reticulum Stress; Fas Ligand Protein; fas Receptor; Neurons; Phenylalanine; Phenylketonurias; Primary Cell Culture; Rats; Rats, Sprague-Dawley; Signal Transduction | 2013 |
Possible chemical initiators of cognitive dysfunction in phenylketonuria, Parkinson's disease and Alzheimer's disease.
Topics: Alzheimer Disease; Catechols; Cognition Disorders; Humans; Metabolic Networks and Pathways; Methionine; Models, Biological; Molecular Structure; Oxidative Stress; Parkinson Disease; Phenylalanine; Phenylketonurias; Tyrosine | 2013 |
Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood-brain phenylalanine transport in Pah enu2 mice: preliminary findings.
Topics: Acids, Acyclic; Aminoisobutyric Acids; Animals; Blood-Brain Barrier; Brain; Disease Models, Animal; Humans; Isoleucine; Large Neutral Amino Acid-Transporter 1; Methylation; Mice; Mice, Transgenic; Molecular Targeted Therapy; Organ Specificity; Phenylalanine; Phenylketonurias; Protein Conformation; Protein Folding; Valine | 2013 |
Evaluation of plasma trace element and mineral status in children and adolescents with phenylketonuria using data from inductively-coupled-plasma atomic emission and mass spectrometric analysis.
Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Diet; Energy Intake; Female; Humans; Linear Models; Male; Mass Spectrometry; Nutritional Status; Phenylalanine; Phenylketonurias; Reference Values; Spectrophotometry, Atomic; Trace Elements | 2013 |
Optimization of an HPLC method for phenylalanine and tyrosine quantization in dried blood spot.
Topics: Adolescent; Chromatography, High Pressure Liquid; Dried Blood Spot Testing; Humans; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity; Tyrosine; Young Adult | 2013 |
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia.
Topics: Animals; Brain; DNA Damage; Fenclonine; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Wistar | 2013 |
Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria.
Topics: Adolescent; Adult; Anisotropy; Case-Control Studies; Child; Diffusion Tensor Imaging; Female; Humans; Male; Phenylalanine; Phenylketonurias; White Matter; Young Adult | 2014 |
Neurocognitive functioning in adults with phenylketonuria: results of a long term study.
Topics: Adolescent; Adult; Age Factors; Brain; Case-Control Studies; Child; Cognition; Female; Humans; Intelligence; Intelligence Tests; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Young Adult | 2013 |
Optimal serum phenylalanine for adult patients with phenylketonuria (PKU).
Topics: Humans; Oxidative Stress; Phenylalanine; Phenylketonurias | 2013 |
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.
Topics: Adolescent; Adult; Body Mass Index; Body Weight; Child; Child, Preschool; Diet; Female; Humans; Infant; Longitudinal Studies; Male; Nutritional Physiological Phenomena; Nutritional Status; Obesity; Overweight; Phenylalanine; Phenylketonurias; Retrospective Studies; Young Adult | 2014 |
Early dietary treated patients with phenylketonuria can achieve normal growth and body composition.
Topics: Adolescent; Anthropometry; Body Composition; Body Height; Case-Control Studies; Child; Cross-Sectional Studies; Electric Impedance; Female; Humans; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Young Adult | 2013 |
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
Topics: Adolescent; Adult; Child; Cognition; Female; Humans; Male; Mental Health; Netherlands; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Social Behavior; Young Adult | 2013 |
Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.
Topics: Alopecia; Animals; Body Weight; Corneal Perforation; Diarrhea, Infantile; Disease Models, Animal; Failure to Thrive; Female; Humans; Infant; Infant Formula; Male; Mice; Phenylalanine; Phenylketonurias; Random Allocation; Tyrosine; Vitamin A Deficiency | 2013 |
PKU patients on a relaxed diet may be at risk for micronutrient deficiencies.
Topics: Adolescent; Adult; Amino Acids; Body Weight; Child; Cross-Sectional Studies; Diet; Diet Records; Dietary Proteins; Dietary Supplements; Humans; Micronutrients; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2014 |
Phenylketonuria: protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine.
Topics: Adult; Amino Acids; Chromatography, High Pressure Liquid; Diet; Food Analysis; Humans; Phenylalanine; Phenylketonurias | 2014 |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Topics: Biomarkers, Pharmacological; Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland | 2013 |
Breastfeeding infants with phenylketonuria in the United States and Canada.
Topics: Breast Feeding; Canada; Child Development; Female; Humans; Infant; Infant Formula; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Milk, Human; Mothers; Phenylalanine; Phenylketonurias; Pregnancy; Surveys and Questionnaires; Time Factors; United States; Weaning | 2014 |
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Topics: Biopterins; Child, Preschool; Combined Modality Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; United States | 2014 |
A questionnaire survey on the usage of low protein staple foods by people with phenylketonuria in Scotland.
Topics: Adolescent; Adult; Attitude to Health; Child; Child, Preschool; Diet Surveys; Diet, Protein-Restricted; Female; Humans; Male; Oryza; Phenylalanine; Phenylketonurias; Scotland; Surveys and Questionnaires; Triticum | 2014 |
Therapeutic implication of L-phenylalanine aggregation mechanism and its modulation by D-phenylalanine in phenylketonuria.
Topics: Humans; Kinetics; Microscopy, Electron, Scanning; Nuclear Magnetic Resonance, Biomolecular; Phenylalanine; Phenylketonurias; Stereoisomerism | 2014 |
Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.
Topics: Adolescent; Child; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Tyrosine | 2014 |
Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model.
Topics: Animals; Biomarkers; Blotting, Western; Brain Chemistry; Chromatography, High Pressure Liquid; Computational Biology; Computer Simulation; Disease Models, Animal; Electrophoresis, Gel, Two-Dimensional; Gene Regulatory Networks; Mice; Nervous System Diseases; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tandem Mass Spectrometry | 2014 |
Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice.
Topics: Animals; Behavior, Animal; Brain; Caseins; Catecholamines; Dietary Proteins; Female; Genotype; Male; Mice; Mice, Inbred C57BL; Motor Activity; Neurotransmitter Agents; Organ Size; Peptide Fragments; Phenylalanine; Phenylketonurias; Serotonin; Time Factors | 2014 |
Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria.
Topics: Adolescent; Child; Executive Function; Female; Humans; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Reference Standards | 2014 |
Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver.
Topics: Animals; Disease Models, Animal; DNA, Superhelical; Female; Genetic Therapy; Genetic Vectors; Liver; Male; Mice, Inbred C57BL; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Promoter Regions, Genetic | 2014 |
Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lipoproteins; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors | 2014 |
Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil.
Topics: Biomarkers; Blood Specimen Collection; Brazil; Cross-Sectional Studies; Female; Humans; Incidence; Infant; Infant, Newborn; Linear Models; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Program Evaluation; Reference Values | 2014 |
Recombinant phenylalanine ammonia lyase in phenylketonuria.
Topics: Female; Humans; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Polyethylene Glycols | 2014 |
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?
Topics: Child, Preschool; Female; Humans; Phenylalanine; Phenylketonurias; Prognosis; Puberty, Precocious | 2014 |
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
Topics: Animals; Biological Availability; Dose-Response Relationship, Drug; Drug Carriers; Drug Delivery Systems; Enzyme Replacement Therapy; Erythrocytes; Humans; Immunoglobulin G; Mice; Mice, Inbred Strains; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2014 |
[Reinforcement of the diagnosis and treatment of hyperphenylalaninemia and prognostic study].
Topics: Child; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prognosis | 2014 |
[Consensus about the diagnosis and treatment of hyperphenylalaninemia].
Topics: Biopterins; Child; Consensus; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Societies, Medical | 2014 |
[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].
Topics: Biopterins; Child; Consensus; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Severity of Illness Index; Tyrosine | 2014 |
The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge.
Topics: Adolescent; Amino Acids; Biomarkers; Child; Child, Preschool; Copper; Diet; Dietary Supplements; Female; Folic Acid; Humans; Infant; Longitudinal Studies; Male; Micronutrients; Nutritional Status; Phenylalanine; Phenylketonurias; Retrospective Studies; Selenium; Zinc | 2014 |
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia.
Topics: Humans; Phenylalanine; Phenylketonurias; Tandem Mass Spectrometry; Tyrosine | 2015 |
Targeting specific nutrient deficiencies in protein-restricted diets: some practical facts in PKU dietary management.
Topics: Cooking; Diet, Protein-Restricted; Dietary Proteins; Dietary Supplements; Humans; Nutrition Assessment; Phenylalanine; Phenylketonurias | 2014 |
Hippocampal synaptic connectivity in phenylketonuria.
Topics: Animals; Disease Models, Animal; Gene Expression Regulation; Hippocampus; Humans; Long-Term Potentiation; Mice; Mice, Knockout; Microglia; Neurons; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Synapses; Synaptic Transmission; Synaptosomal-Associated Protein 25 | 2015 |
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
Topics: 5-Hydroxytryptophan; Biopterins; Child, Preschool; China; Follow-Up Studies; Genotype; Humans; Infant; Infant, Newborn; Intelligence Tests; Levodopa; Mutation; Neopterin; Phenylalanine; Phenylketonurias; Treatment Outcome | 2015 |
Phenylalanine sensitive K562-D cells for the analysis of the biochemical impact of excess amino acid.
Topics: Adaptor Proteins, Signal Transducing; Biological Transport; Cell Differentiation; Cell Proliferation; Fusion Regulatory Protein-1; Gene Expression Regulation; Hemin; Humans; K562 Cells; Mechanistic Target of Rapamycin Complex 1; Models, Biological; Multiprotein Complexes; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Signal Transduction; TOR Serine-Threonine Kinases; Valine | 2014 |
Conversion of a laboratory-based test for phenylalanine detection to a simple paper-based format and implications for PKU screening in low-resource settings.
Topics: Colorimetry; Humans; Infant, Newborn; Neonatal Screening; Nitroblue Tetrazolium; Phenylalanine; Phenylketonurias; Staining and Labeling | 2015 |
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Data Collection; Diet; Dietary Proteins; Female; Humans; Infant; Male; Medication Adherence; Middle Aged; Phenylalanine; Phenylketonurias; Telephone; Young Adult | 2015 |
Management of adult patients with phenylketonuria: survey results from 24 countries.
Topics: Adult; Health Care Surveys; Health Personnel; Humans; Phenylalanine; Phenylketonurias; Practice Patterns, Physicians'; Surveys and Questionnaires | 2015 |
Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Diffusion Tensor Imaging; Female; Humans; Male; Neuroimaging; Phenylalanine; Phenylketonurias; Retrospective Studies; White Matter | 2015 |
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Patient Outcome Assessment; Phenylalanine; Phenylketonurias; Recommended Dietary Allowances; Time Factors | 2015 |
Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland.
Topics: Adolescent; Adult; Age Factors; Education; Employment; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Retrospective Studies; Switzerland; Young Adult | 2014 |
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Topics: Adult; Executive Function; Female; Humans; Male; Middle Aged; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2015 |
Plasma cholesterol in adults with phenylketonuria.
Topics: Adolescent; Adult; Body Mass Index; Cholesterol; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
Descriptive and hedonic analyses of low-Phe food formulations containing corn (Zea mays) seedling roots: toward development of a dietary supplement for individuals with phenylketonuria.
Topics: Anthocyanins; Dietary Supplements; Edible Grain; Food, Formulated; Humans; Odorants; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Plant Roots; Seedlings; Taste; Zea mays | 2016 |
Protective effect of L-carnitine on Phenylalanine-induced DNA damage.
Topics: Adolescent; Carnitine; Dietary Supplements; DNA Damage; Female; Humans; Male; Phenylalanine; Phenylketonurias; Protective Agents; Young Adult | 2015 |
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet; Drug-Related Side Effects and Adverse Reactions; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Phenylalanine; Phenylketonurias; Registries; Time Factors; Tyrosine; Young Adult | 2015 |
HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias.
Topics: Chromatography, High Pressure Liquid; Cuba; Diagnosis, Differential; Female; Gestational Age; Humans; Infant, Newborn; Male; Monitoring, Physiologic; Neonatal Screening; Phenylalanine; Phenylketonurias; Retrospective Studies; Tyrosine | 2015 |
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.
Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Models, Statistical; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Retrospective Studies | 2015 |
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Topics: Adult; Amino Acids; Caseins; Child; Child, Preschool; Dietary Proteins; Dietary Supplements; Europe; Female; Humans; Infant; Infant, Newborn; Male; Peptide Fragments; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; Turkey; World Health Organization | 2015 |
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Topics: Biopterins; Body Height; Body Weight; Child, Preschool; Diet, Protein-Restricted; Female; Genotype; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Mutation; Nutritional Status; Phenylalanine; Phenylketonurias; Retrospective Studies; Spain | 2015 |
Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center.
Topics: Child; Child Abuse; Child Protective Services; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Referral and Consultation | 2015 |
Phenylketonuria, an unusual diagnosis of mental retardation in an adult patient.
Topics: Brain; Consanguinity; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
Deriving nutrition information using mathematical estimation: the example of phenylalanine in sweets with gelatin.
Topics: Algorithms; Candy; Diet, Protein-Restricted; Food Additives; Food Labeling; Gelatin; Humans; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Software; Sweetening Agents | 2015 |
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Diet; DNA; Genetic Association Studies; Genotype; Humans; Infant; Italy; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Prognosis; Treatment Outcome; Young Adult | 2015 |
Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats.
Topics: Animals; Behavior, Animal; Brain; Chronic Disease; Glucose; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred F344 | 2016 |
Reduction of L-phenylalanine in protein hydrolysates using L-phenylalanine ammonia-lyase from Rhodosporidium toruloides.
Topics: Basidiomycota; Caseins; Cinnamates; Dietary Supplements; Humans; Hydrogen-Ion Concentration; Kinetics; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Protein Hydrolysates; Temperature | 2015 |
Comparison of atherogenic risk factors among poorly controlled and well-controlled adolescent phenylketonuria patients.
Topics: Adolescent; Atherosclerosis; Biomarkers; Case-Control Studies; Child; Cholesterol, HDL; Female; Homocysteine; Humans; Male; Mean Platelet Volume; Phenylalanine; Phenylketonurias; Risk Factors; Turkey | 2016 |
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.
Topics: Adolescent; Adult; Aging; Child; Female; Follow-Up Studies; Humans; Intelligence Tests; Longitudinal Studies; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; White Matter; Young Adult | 2015 |
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Topics: Adolescent; Adult; Child; Child, Preschool; Disease Management; Europe; Female; Health Personnel; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Pregnancy; Surveys and Questionnaires; Young Adult | 2016 |
Urinary biomarkers of oxidative stress and plasmatic inflammatory profile in phenylketonuric treated patients.
Topics: Adolescent; Biomarkers; Child; Creatine Kinase; Cytokines; Dinoprost; Female; Humans; Lipid Peroxidation; Male; Oxidative Stress; Phenylalanine; Phenylketonurias; Reactive Oxygen Species; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Tyrosine; Young Adult | 2015 |
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
Topics: Adolescent; Adult; Autoimmune Diseases; Biopterins; Child; Child, Preschool; Chromosome Aberrations; Consanguinity; Diet; Disease Management; Europe; Female; Gastrointestinal Diseases; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies; Turkey | 2015 |
Doxycycline hinders phenylalanine fibril assemblies revealing a potential novel therapeutic approach in phenylketonuria.
Topics: Amyloid; Animals; Doxycycline; Hep G2 Cells; Humans; Mice; Neurons; Phenylalanine; Phenylketonurias; Synapses | 2015 |
Phenylalanine induces oxidative stress and decreases the viability of rat astrocytes: possible relevance for the pathophysiology of neurodegeneration in phenylketonuria.
Topics: Adenylate Kinase; Animals; Astrocytes; Cell Survival; Cells, Cultured; Creatine Kinase; Mitochondria; Nerve Degeneration; Oxidative Stress; Phenylalanine; Phenylketonurias; Pyruvate Kinase; Rats; Rats, Wistar | 2016 |
Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice.
Topics: Amino Acids, Neutral; Animals; Brain; Dietary Supplements; Disease Models, Animal; Dopamine; Female; Male; Mice; Neurocognitive Disorders; Phenylalanine; Phenylketonurias; Serotonin | 2015 |
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
Topics: Administration, Oral; Animals; Biopterins; Brain; Disease Models, Animal; Dopamine; Genotype; Homovanillic Acid; Humans; Indoles; Mice; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase | 2016 |
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.
Topics: Animals; Brain; Calcium-Binding Proteins; Disease Models, Animal; DNA Methylation; Gene Expression Regulation; Genomic Imprinting; Humans; Intercellular Signaling Peptides and Proteins; Iodide Peroxidase; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Promoter Regions, Genetic; RNA, Untranslated | 2016 |
[Evaluation of physical development in children with classical phenylketonuria].
Topics: Body Height; Body Mass Index; Body Weight; Child Development; Child, Preschool; Female; Food, Formulated; Humans; Infant; Infant, Newborn; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Protein Hydrolysates; Retrospective Studies | 2015 |
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Topics: Alanine; Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2016 |
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.
Topics: Adolescent; Adult; Child; Cognition; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Social Skills; Young Adult | 2016 |
Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria.
Topics: Adolescent; Adult; Cerebral Cortex; Child; Female; Gray Matter; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Young Adult | 2016 |
Prooxidant-antioxidant balance in patients with phenylketonuria and its correlation to biochemical and hematological parameters.
Topics: Antioxidants; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Reactive Oxygen Species; Tyrosine | 2016 |
Phenylketonuria: Direct and indirect effects of phenylalanine.
Topics: Animals; Cells, Cultured; Cofilin 1; Dendrites; Disease Models, Animal; Embryo, Mammalian; Entorhinal Cortex; Excitatory Amino Acid Agonists; Gene Expression Regulation; Hippocampus; In Vitro Techniques; Mice; Mice, Inbred C57BL; Mice, Transgenic; Microglia; Mutation; N-Methylaspartate; Neurons; Phagocytosis; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; rac1 GTP-Binding Protein; Synapses | 2016 |
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria.
Topics: Animal Feed; Animals; Diet; Disks Large Homolog 4 Protein; Female; Gene Expression Regulation; Genotype; Guanylate Kinases; Hippocampus; Male; Membrane Proteins; Mice; Phenylalanine; Phenylketonurias; Random Allocation | 2016 |
Protein substitutes for phenylketonuria in Europe: access and nutritional composition.
Topics: Amino Acids; Amino Acids, Neutral; Caseins; Dietary Proteins; Europe; Food, Formulated; Humans; Peptide Fragments; Phenylalanine; Phenylketonurias; Turkey | 2016 |
Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study.
Topics: Adolescent; Adult; Biomarkers; Cross-Sectional Studies; Dopamine Agents; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Prognosis; Prolactin; Tyrosine; Young Adult | 2016 |
Inhibition of Fibrillar Assemblies of l-Phenylalanine by Crown Ethers: A Potential Approach toward Phenylketonuria.
Topics: Amyloid; Circular Dichroism; Crown Ethers; Kinetics; Microscopy, Confocal; Microscopy, Electron, Scanning; Microscopy, Fluorescence; Molecular Structure; Nuclear Magnetic Resonance, Biomolecular; Phenylalanine; Phenylketonurias; Proton Magnetic Resonance Spectroscopy; Pyrans; Styrenes | 2016 |
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.
Topics: Adult; Amino Acids, Neutral; Biomarkers; Biopterins; Dietary Supplements; Dopamine; Drug Synergism; Female; Humans; Male; Melatonin; Middle Aged; Phenylalanine; Phenylketonurias; Serotonin | 2016 |
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.
Topics: Adolescent; Amino Acids, Neutral; Female; Food, Formulated; Food, Fortified; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Treatment Outcome | 2017 |
Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model.
Topics: Amino Acids, Neutral; Animals; Brain; Diet; Dietary Supplements; Disease Models, Animal; Dopamine; Female; Male; Mice; Mice, Knockout; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin | 2016 |
50 Years Ago in TheJournal ofPediatrics: Evaluation of the Effects of Terminating the Diet in Phenylketonuria.
Topics: Child; Child, Preschool; Diet; History, 20th Century; Humans; Pediatrics; Phenylalanine; Phenylketonurias | 2016 |
One too many: intellectual disability secondary to undiagnosed phenylketonuria.
Topics: Child, Preschool; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 2016 |
Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain.
Topics: Amino Acids; Animals; Brain; Diet, Protein-Restricted; Disease Models, Animal; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2017 |
Post-Translational Incorporation of L-Phenylalanine into the C-Terminus of α-Tubulin as a Possible Cause of Neuronal Dysfunction.
Topics: Animals; Cell Line; Cell Proliferation; Cell Survival; Green Fluorescent Proteins; Humans; Mice; Microtubules; Neurites; Neurons; Phenylalanine; Phenylketonurias; Protein Processing, Post-Translational; Tubulin; Tyrosine | 2016 |
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
Topics: Attention Deficit Disorder with Hyperactivity; Child; Delayed Diagnosis; Diagnosis, Differential; Dyslexia; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias | 2016 |
50 Years Ago in The Journal of Pediatrics: Conference on Treatment of Phenylketonuria.
Topics: Child; Congresses as Topic; History, 20th Century; Humans; Infant; Pediatrics; Phenylalanine; Phenylketonurias | 2017 |
Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
Topics: Adult; Brain; Cognition; Cognition Disorders; Diet; Early Medical Intervention; Executive Function; Female; Humans; Male; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2017 |
Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria.
Topics: Age Factors; Biomarkers; Blood Glucose; Case-Control Studies; Child; Child, Preschool; Cholesterol, LDL; Diet, Protein-Restricted; Dietary Carbohydrates; Feeding Behavior; Female; Glycemic Index; Glycemic Load; Humans; Male; Phenylalanine; Phenylketonurias; Triglycerides | 2017 |
Glycomacropeptide in children with phenylketonuria: does its phenylalanine content affect blood phenylalanine control?
Topics: Adolescent; Amino Acids; Anthropometry; Caseins; Child; Diet; Female; Humans; Male; Micronutrients; Nutrition Assessment; Peptide Fragments; Phenylalanine; Phenylketonurias; Pilot Projects; Prospective Studies; Tyrosine | 2017 |
Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II.
Topics: Crown Ethers; Europium; Hydrogen Bonding; Kinetics; Macromolecular Substances; Phenylalanine; Phenylketonurias; Samarium; Terbium; Tyrosine; Tyrosinemias | 2017 |
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Topics: Alleles; Amino Acid Sequence; Biopterins; Case-Control Studies; Dopamine; Dystonia; Exons; Female; Fibroblasts; Gene Deletion; Genome-Wide Association Study; HSP70 Heat-Shock Proteins; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Repressor Proteins; Serotonin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 2017 |
Adherence to clinic recommendations among patients with phenylketonuria in the United States.
Topics: Adolescent; Adult; Age Factors; Ambulatory Care Facilities; Child; Child, Preschool; Double-Blind Method; Female; Health Personnel; Humans; Infant; Infant, Newborn; Male; Middle Aged; Patient Compliance; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Surveys and Questionnaires; United States; Young Adult | 2017 |
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
Topics: Adolescent; Adult; Attention; Brain; Cognition; Cognition Disorders; Executive Function; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Young Adult | 2017 |
Sapropterin (Kuvan) for phenylketonuria.
Topics: Biopterins; Fees, Pharmaceutical; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2008 |
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
Topics: Administration, Oral; Allosteric Regulation; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Binding Sites; Biopterins; Catalytic Domain; Computer Simulation; Dimerization; Endopeptidase K; Enzyme Stability; Female; Hot Temperature; Humans; Hydrogen Bonding; Hydrolysis; Hydrophobic and Hydrophilic Interactions; Infant, Newborn; Kinetics; Luminescence; Male; Models, Molecular; Motion; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Denaturation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; Protein Subunits; Recombinant Fusion Proteins; Static Electricity | 2008 |
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?
Topics: Adolescent; Biomarkers; Child; Child, Preschool; Comprehension; Dietary Proteins; Female; Health Behavior; Health Knowledge, Attitudes, Practice; Humans; Infant; Male; Mothers; Patient Education as Topic; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Surveys and Questionnaires; Turkey | 2008 |
Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?
Topics: Child; Child, Preschool; Educational Status; Female; Health Knowledge, Attitudes, Practice; Humans; Infant; Male; Mother-Child Relations; Mothers; Parent-Child Relations; Patient Education as Topic; Phenylalanine; Phenylketonurias | 2008 |
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Topics: Apoptosis; Blotting, Western; Cell Cycle; Cell Line, Tumor; Cell Proliferation; Gene Expression Regulation; Humans; Immunohistochemistry; Microarray Analysis; Neuroblastoma; Neurons; Phenylalanine; Phenylketonurias; PPAR gamma; Rosiglitazone; Thiazolidinediones | 2008 |
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria.
Topics: Adolescent; Biomarkers; Bone Resorption; Case-Control Studies; Cells, Cultured; Child; Female; Humans; Italy; Leukocytes, Mononuclear; Male; Osteoclasts; Phenylalanine; Phenylketonurias; Young Adult | 2008 |
A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.
Topics: Adolescent; Adult; Age Distribution; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Male; Netherlands; Nutritional Requirements; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2008 |
Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.
Topics: Adolescent; Adult; Child; Diet; Dietary Supplements; Female; Humans; Male; Nutritional Requirements; Patient Compliance; Phenylalanine; Phenylketonurias; Tablets; Vitamins | 2008 |
Carnitine status in early-treated children, adolescents and young adults with phenylketonuria on low phenylalanine diets.
Topics: Adolescent; Adult; Analysis of Variance; Carnitine; Case-Control Studies; Child; Child, Preschool; Cohort Studies; Diet, Protein-Restricted; Female; Humans; Infant; Male; Nutritional Requirements; Nutritional Status; Phenylalanine; Phenylketonurias; Young Adult | 2008 |
Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.
Topics: Adolescent; Adult; Affective Symptoms; Biomarkers; Diet, Protein-Restricted; Female; Health Care Costs; Health Knowledge, Attitudes, Practice; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Poland; Prospective Studies; Quality of Life; Severity of Illness Index; Surveys and Questionnaires; Time Factors; Treatment Outcome; Young Adult | 2008 |
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.
Topics: Carbocysteine; Humans; Kinetics; Mutation, Missense; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Substrate Specificity | 2009 |
Adults with untreated phenylketonuria: out of sight, out of mind.
Topics: Adult; Aged; Dietary Supplements; Female; Health Surveys; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; United Kingdom; Young Adult | 2008 |
Effect of BH(4) supplementation on phenylalanine tolerance.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Drug Tolerance; Female; Genotype; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Retrospective Studies; Young Adult | 2009 |
Development of micellar electro kinetic chromatography for the separation and quantitation of L-valine, L-leucine, L-isoleucin and L-phenylalanine in human plasma and comparison with HPLC.
Topics: Chromatography, High Pressure Liquid; Chromatography, Micellar Electrokinetic Capillary; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Plasma; Reproducibility of Results; Valine | 2007 |
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria.
Topics: Anabaena variabilis; Animals; Antineoplastic Agents; Bacterial Proteins; Dose-Response Relationship, Drug; Drug Evaluation, Preclinical; Enzyme Stability; Humans; Mice; Mice, Mutant Strains; Organ Specificity; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Polyethylene Glycols; Recombinant Proteins | 2008 |
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Topics: China; Dihydropteridine Reductase; Humans; Infant; Male; Mutation; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 2008 |
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
Topics: Age Factors; Child; Child, Preschool; Drug Tolerance; Follow-Up Studies; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2009 |
Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test.
Topics: Blood Specimen Collection; Cuba; Fluorometry; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Sensitivity and Specificity | 2009 |
Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis.
Topics: Adolescent; Adult; Cerebrum; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Positron-Emission Tomography; Protein Biosynthesis; Tyrosine | 2009 |
Response monitoring in children with phenylketonuria.
Topics: Adolescent; Age Factors; Attention; Child; Cognition Disorders; Female; Humans; Inhibition, Psychological; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reaction Time | 2009 |
Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria.
Topics: Adolescent; Biomarkers; Child; Cognition; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance; Tyrosine | 2009 |
[Classic maternal phenylketonuria and sonographic evidence of fetal trisomy 21: first description].
Topics: Adult; Down Syndrome; Female; Humans; Hydrothorax; Infant, Newborn; Karyotyping; Male; Obstetric Labor, Premature; Phenylalanine; Phenylketonurias; Polyhydramnios; Pregnancy; Pregnancy Complications; Pregnancy Trimester, Third; Prenatal Care; Ultrasonography, Prenatal | 2009 |
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cell Line, Tumor; Cells, Cultured; Culture Media; Electron Transport; Female; Humans; Lactic Acid; Male; Middle Aged; Mitochondrial Diseases; Phenylalanine; Phenylketonurias; Pyruvic Acid; Tremor; Tyrosine; Ubiquinone; Young Adult | 2009 |
Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy.
Topics: Adolescent; Adult; Biomarkers; Brain; Child; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Phenylalanine; Phenylketonurias; Protons; Reproducibility of Results; Sensitivity and Specificity; Young Adult | 2009 |
Dietary management practices in phenylketonuria across European centres.
Topics: Breast Feeding; Diet; Dietary Proteins; Europe; Female; Health Care Surveys; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Practice Patterns, Physicians'; Quality of Health Care; Surveys and Questionnaires | 2009 |
Effect of short- and long-term exposition to high phenylalanine blood levels on oxidative damage in phenylketonuric patients.
Topics: Antioxidants; Brain; Child; Child, Preschool; Diet; Glutathione; Humans; Infant; Infant, Newborn; Oxidation-Reduction; Oxidative Stress; Phenylalanine; Phenylketonurias | 2009 |
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Female; Gene Frequency; Genotype; Humans; Infant; Male; Mutation; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland; Young Adult | 2009 |
Adults with late diagnosed PKU and severe challenging behaviour.
Topics: Adult; Brain; Cross-Over Studies; Double-Blind Method; Evidence-Based Medicine; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Social Behavior Disorders; Treatment Outcome | 2009 |
[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].
Topics: Biopterins; Dietary Supplements; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life | 2009 |
[Did the change of technique of screening investigations influence on improvement of test credibility in recognizing and differentiating diagnostics of hiperphenylalaninemias?].
Topics: Adult; Colorimetry; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Poland; Pregnancy; Prevalence | 2009 |
Determination of phenylalanine in blood by high-performance anion-exchange chromatography-pulsed amperometric detection to diagnose phenylketonuria.
Topics: Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Sensitivity and Specificity | 2009 |
In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model.
Topics: Animals; Kinetics; Mice; Mice, Transgenic; Models, Animal; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorylation; Pterins | 2009 |
[Quantification of phenylalanine in the brain of patients with hyperphenylalaninemia by (1)H magnetic resonance spectroscopy].
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Intelligence Tests; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 2009 |
In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).
Topics: Age Factors; Child, Preschool; Drug Tolerance; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Reproducibility of Results; Treatment Outcome | 2009 |
5-Hydroxytryptophan rescues serotonin response to stress in prefrontal cortex of hyperphenylalaninaemic mice.
Topics: 5-Hydroxytryptophan; Analysis of Variance; Animals; Antidepressive Agents, Second-Generation; Diet, Reducing; Disease Models, Animal; Dopamine; Dose-Response Relationship, Drug; Mice; Microdialysis; Neuraminidase; Norepinephrine; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Serotonin; Time Factors; Tryptophan Hydroxylase | 2009 |
Neonatal screening for congenital hypothyroidism and phenylketonuria in China.
Topics: Biomarkers; China; Congenital Hypothyroidism; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Retrospective Studies; Thyrotropin | 2009 |
[Diagnostic value of the determination of hyperphenylalaninemia in the newborn].
Topics: Case-Control Studies; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests | 2009 |
Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria.
Topics: Adolescent; Adult; Biomarkers; Calcium; Child; Dietary Proteins; Female; Food, Formulated; Hematocrit; Hemoglobins; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Retrospective Studies; Selenium; Serum Albumin; Treatment Outcome; Vitamin B 12; Young Adult | 2009 |
Experimental evidence that phenylalanine provokes oxidative stress in hippocampus and cerebral cortex of developing rats.
Topics: Animals; Cerebral Cortex; Glutathione; Hippocampus; Humans; Lipid Peroxidation; Nitric Oxide; Oxidative Stress; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances | 2010 |
Management of phenylketonuria in Europe: survey results from 19 countries.
Topics: Adult; Child, Preschool; Europe; Follow-Up Studies; Health Care Surveys; Health Planning Guidelines; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Registries; Surveys and Questionnaires | 2010 |
Maternal phenylketonuria.
Topics: Child; Epilepsy; Female; Humans; Infant; Male; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects | 2009 |
A case of maternal PKU syndrome despite intensive patient counseling.
Topics: Diet, Protein-Restricted; Female; Fetal Growth Retardation; Genetic Counseling; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Ultrasonography, Prenatal; Young Adult | 2009 |
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Statistics, Nonparametric; Tyrosine; Young Adult | 2010 |
Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid.
Topics: Animals; Brain Stem; Disease Models, Animal; Gene Expression Regulation; Hep G2 Cells; Hepatocyte Nuclear Factor 4; Humans; Liver; Mice; Mice, Mutant Strains; Mitogen-Activated Protein Kinase 3; Organ Specificity; p38 Mitogen-Activated Protein Kinases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Prealbumin | 2010 |
The rehabilitation programme of an adult phenylketonuria with upper motor neuron involvement.
Topics: Botulinum Toxins, Type A; Combined Modality Therapy; Cryotherapy; Humans; Male; Motor Neuron Disease; Muscle Spasticity; Phenylalanine; Phenylketonurias; Vitamin B 12; Young Adult | 2009 |
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
Topics: Adolescent; Adult; Biopterins; Child; Denmark; Female; Heterozygote; Homozygote; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2010 |
Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor.
Topics: Animals; Blotting, Western; Brain-Derived Neurotrophic Factor; Cell Survival; Cells, Cultured; Cerebral Cortex; Embryo, Mammalian; Extracellular Signal-Regulated MAP Kinases; Neurites; Neurons; Phenylalanine; Phenylketonurias; Phosphorylation; Proto-Oncogene Proteins c-akt; Rats; Rats, Sprague-Dawley; Receptor, trkB; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Signal Transduction | 2010 |
Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control.
Topics: Adolescent; Case-Control Studies; Child; Child Behavior; Diet; Electroencephalography; Evoked Potentials; Evoked Potentials, Visual; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2010 |
Self-assessed and objective blood phenylalanine levels in patients with early treated phenylketonuria.
Topics: Adolescent; Child; Female; Health Status; Humans; Male; Phenylalanine; Phenylketonurias; Self Care; Self Concept | 2010 |
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.
Topics: Animals; Cells, Cultured; Corpus Callosum; Disease Models, Animal; Lac Operon; Mice; Mice, Mutant Strains; Mice, Transgenic; Myelin Basic Protein; Myelin Sheath; Oligodendroglia; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Promoter Regions, Genetic; Rats; Rats, Wistar | 2010 |
The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients.
Topics: Adolescent; Adult; Aging; Biomarkers; Child; Child, Preschool; Dietary Carbohydrates; Dietary Fats; Dietary Proteins; Energy Intake; Female; Humans; Infant; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Prealbumin; Young Adult | 2010 |
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Topics: Adolescent; Biomarkers; Biopterins; Body Weight; Child; Child, Preschool; Combined Modality Therapy; Diet, Protein-Restricted; Drug Dosage Calculations; Follow-Up Studies; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome | 2010 |
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain.
Topics: Analysis of Variance; Animals; Antioxidants; Brain; Catalase; Glucosephosphate Dehydrogenase; Glutathione Peroxidase; Oxidative Stress; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Superoxide Dismutase; Thioctic Acid | 2010 |
Large neutral amino acids in daily practice.
Topics: Administration, Oral; Adult; Aged; Aged, 80 and over; Amino Acids, Neutral; Biomarkers; Combined Modality Therapy; Denmark; Diet, Protein-Restricted; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Powders; Tablets; Treatment Outcome; Young Adult | 2010 |
Phenylketonuria management from an European perspective: a commentary.
Topics: Adolescent; Adult; Child; Europe; Female; Health Care Surveys; Humans; Male; Patient Compliance; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Practice Patterns, Physicians' | 2010 |
A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels.
Topics: Adolescent; Analysis of Variance; Child; Cognition Disorders; Executive Function; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Severity of Illness Index; Surveys and Questionnaires; Tyrosine | 2010 |
Generalized seizures aggravated by levetiracetam in an adult patient with phenylketonuria.
Topics: Anticonvulsants; Dose-Response Relationship, Drug; Electroencephalography; Epilepsy; Female; Fructose; Humans; Levetiracetam; Phenylalanine; Phenylketonurias; Piracetam; Topiramate; Treatment Outcome; Young Adult | 2010 |
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Pteridines | 2010 |
The effect of diet on total antioxidant status, ceruloplasmin, transferrin and ferritin serum levels in phenylketonuric children.
Topics: Antioxidants; Blood Cell Count; Ceruloplasmin; Copper; Diet; Erythrocyte Indices; Ferritins; Humans; Lipids; Lipoproteins; Oxidative Stress; Phenylalanine; Phenylketonurias; Transferrin | 2010 |
Sapropterin.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2010 |
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
Topics: Adiposity; Adolescent; Age Factors; Amino Acids; Biomarkers; Body Mass Index; Case-Control Studies; Child; Diet, Protein-Restricted; Equipment Design; Female; Humans; Infant, Newborn; Linear Models; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Plethysmography, Whole Body; Predictive Value of Tests; Sex Factors; Weight Gain | 2010 |
L-Phenylalanine concentration in blood of phenylketonuria patients: a modified enzyme colorimetric assay compared with amino acid analysis, tandem mass spectrometry, and HPLC methods.
Topics: Adolescent; Adult; Amino Acid Oxidoreductases; Calibration; Child; Chromatography, High Pressure Liquid; Colorimetry; Female; Humans; Middle Aged; Phenylalanine; Phenylketonurias; Sporosarcina; Tandem Mass Spectrometry; Young Adult | 2010 |
Challenges and pitfalls in the management of phenylketonuria.
Topics: Biopterins; Brain; Cognition Disorders; Consensus; Growth Disorders; Humans; Infant, Newborn; Neonatal Screening; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Failure | 2010 |
Immobilization of phenylalanine dehydrogenase and its application in flow-injection analysis system for determination of plasma phenylalanine.
Topics: Amino Acid Oxidoreductases; Bioreactors; DEAE-Cellulose; Diamines; Enzymes, Immobilized; Flow Injection Analysis; Glutaral; Humans; Hydrogen-Ion Concentration; Kinetics; NAD; Phenylalanine; Phenylketonurias; Sensitivity and Specificity; Sporosarcina; Temperature | 2011 |
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
Topics: Allosteric Regulation; Biopterins; Coenzymes; Enzyme Activation; Fluorescence; Humans; Kinetics; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2010 |
Determination of unconjugated aromatic acids in urine by capillary electrophoresis with dual electrochemical detection--potential application in fast diagnosis of phenylketonuria.
Topics: Adult; Biomarkers; Electrodes; Electrophoresis, Capillary; Female; Humans; Hydrogen-Ion Concentration; Infant; Linear Models; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Reproducibility of Results; Sensitivity and Specificity; Sodium Dodecyl Sulfate | 2010 |
Past, present and future of newborn screening in Chile.
Topics: Biomarkers; Chile; Congenital Hypothyroidism; Dried Blood Spot Testing; Forecasting; Genetic Predisposition to Disease; History, 20th Century; History, 21st Century; Humans; Incidence; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Program Development; Program Evaluation; Thyroid Hormones; Time Factors | 2010 |
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Animals; Biopterins; Breath Tests; Disease Models, Animal; Dose-Response Relationship, Drug; Heterozygote; Mice; Mice, Mutant Strains; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Tyrosine | 2010 |
Sapropterin. Phenylketonuria: for a minority of patients.
Topics: Biopterins; Clinical Trials as Topic; Humans; Phenylalanine; Phenylketonurias | 2010 |
Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density.
Topics: Absorptiometry, Photon; Adolescent; Adult; Biomarkers; Bone Density; Bone Diseases, Metabolic; Calcium; Case-Control Studies; Child; Cross-Sectional Studies; Diet, Protein-Restricted; Docosahexaenoic Acids; Eicosapentaenoic Acid; Fatty Acids; Female; Femur Neck; Humans; Lumbar Vertebrae; Male; Nutritional Status; Osteoporosis; Phenylalanine; Phenylketonurias; Risk Factors; Vitamin D; Young Adult | 2010 |
Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.
Topics: Adolescent; Australasia; Biomarkers; Child; Child, Preschool; Cognition; Dietary Supplements; Europe; Executive Function; Health Care Surveys; Humans; Infant; Infant, Newborn; Intelligence Tests; Neuropsychological Tests; North America; Phenylalanine; Phenylketonurias; Practice Patterns, Physicians'; Predictive Value of Tests; Surveys and Questionnaires; Time Factors; Treatment Outcome; Tyrosine | 2010 |
Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.
Topics: Biopterins; Child, Preschool; Female; Humans; Infant; Male; Patient Selection; Phenylalanine; Phenylketonurias; Treatment Outcome | 2011 |
Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.
Topics: Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias | 2010 |
Routine use of CANTAB system for detection of neuropsychological deficits in patients with PKU.
Topics: Adolescent; Adult; Female; Humans; Male; Nervous System Diseases; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2011 |
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
Topics: Alcohol Oxidoreductases; Animals; Biopterins; Corpus Striatum; Dopamine; Gene Expression Regulation, Developmental; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Neurologic Mutants; Movement Disorders; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Substantia Nigra; Tyrosine; Tyrosine 3-Monooxygenase | 2011 |
Blood phenylalanine control in phenylketonuria: a survey of 10 European centres.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies; Treatment Outcome; Young Adult | 2011 |
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Topics: Alleles; Biopterins; Dose-Response Relationship, Drug; Female; Genetic Association Studies; Genetic Variation; Genotype; Humans; Infant, Newborn; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Turkey | 2011 |
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.
Topics: Adolescent; Bone and Bones; Bone Density; Bone Resorption; Cell Differentiation; Cells, Cultured; Child; Enzyme-Linked Immunosorbent Assay; Female; Flow Cytometry; Humans; Leukocytes, Mononuclear; Lymphocyte Activation; Macrophage Colony-Stimulating Factor; Male; Osteoclasts; Osteoprotegerin; Phenylalanine; Phenylketonurias; RANK Ligand; T-Lymphocytes; Tumor Necrosis Factor-alpha; Young Adult | 2010 |
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.
Topics: Adult; Case-Control Studies; Cognition; Diet; Female; Humans; Male; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy; Quality of Life; Reaction Time; Saccades | 2011 |
Phenotyping and treatment of phenylketonuria.
Topics: Biopterins; Dietary Supplements; Humans; Phenotype; Phenylalanine; Phenylketonurias | 2011 |
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Topics: Base Sequence; Biopterins; Chromatography, High Pressure Liquid; DNA Primers; Genotype; Humans; Japan; Molecular Sequence Data; Mutation, Missense; Nucleic Acid Amplification Techniques; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sequence Analysis, DNA | 2011 |
Lysosomal enzyme activities in phenylketonuria.
Topics: Adolescent; Adult; alpha-Galactosidase; beta-Glucosidase; Case-Control Studies; Child; Child, Preschool; Humans; Infant; Lysosomes; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector.
Topics: Animals; Dependovirus; Female; Gene Order; Genetic Therapy; Genetic Vectors; HEK293 Cells; Humans; Liver; Male; Mice; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors; Transduction, Genetic | 2011 |
Tetrahydrobiopterin and phenylketonuria.
Topics: Biopterins; Humans; Nitric Oxide; Phenylalanine; Phenylketonurias | 2011 |
Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria.
Topics: Child Behavior Disorders; Child Development; Child, Preschool; China; Female; Humans; Infant; Male; Motor Skills; Phenylalanine; Phenylketonurias; Social Adjustment; Socioeconomic Factors; Temperament | 2011 |
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.
Topics: Adolescent; Bone and Bones; Bone Density; Child; Child, Preschool; Female; Fingers; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Ultrasonography | 2011 |
Adherence to diet and quality of life in patients with phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Quality of Life; Young Adult | 2011 |
Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine.
Topics: Adolescent; Adult; Amino Acids; Capsules; Diet Records; Dietary Supplements; Humans; Longitudinal Studies; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Time Factors; Young Adult | 2011 |
Queuosine deficiency in eukaryotes compromises tyrosine production through increased tetrahydrobiopterin oxidation.
Topics: Animals; Hep G2 Cells; Humans; Mice; Nucleoside Q; Oxidation-Reduction; Pentosyltransferases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; RNA, Transfer; Tetrahydrofolate Dehydrogenase; Tyrosine | 2011 |
Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Data Collection; Female; Humans; Infant; Infant, Newborn; Patient Compliance; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies; Sex Factors; Treatment Outcome; United Kingdom | 2011 |
Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria.
Topics: Adolescent; Adult; Biomarkers; Erythrocytes; Female; Humans; Male; Middle Aged; Nitric Oxide; Oxidative Stress; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
Topics: Biopterins; Coenzymes; Enzyme Activation; Genotype; HEK293 Cells; Humans; Kinetics; Molecular Chaperones; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2011 |
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intelligence; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias; Prognosis; Young Adult | 2011 |
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria.
Topics: Adolescent; Biopterins; Child; Female; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
Mechanisms regulating superoxide generation in experimental models of phenylketonuria: an essential role of NADPH oxidase.
Topics: Acetophenones; Animals; Blotting, Western; Cells, Cultured; Cerebral Cortex; Chromatography, Liquid; Colorimetry; Ethidium; Fluorescent Antibody Technique; Mice; Mice, Mutant Strains; NADPH Oxidases; Onium Compounds; Oxidative Stress; Phenylalanine; Phenylketonurias; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Superoxides; Tandem Mass Spectrometry | 2011 |
PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Likelihood Functions; Mood Disorders; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2011 |
Autophagy induction by tetrahydrobiopterin deficiency.
Topics: Alcohol Oxidoreductases; Animals; Autophagy; Biopterins; Child; Down-Regulation; Female; Humans; Infant; Liver; Male; Mechanistic Target of Rapamycin Complex 1; Mice; Monomeric GTP-Binding Proteins; Multiprotein Complexes; Neuropeptides; NIH 3T3 Cells; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Proteins; Ras Homolog Enriched in Brain Protein; TOR Serine-Threonine Kinases; Tyrosine | 2011 |
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.
Topics: Administration, Oral; Alginates; Anabaena variabilis; Analysis of Variance; Animals; Basidiomycota; Chitosan; Dextran Sulfate; Dose-Response Relationship, Drug; Glucuronic Acid; Hexuronic Acids; Mice; Nanoparticles; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2011 |
[Use of computerized neuropsychological tests and of nuclear magnetic resonance spectroscopy in clinical assessment of adult patients with phenylketonuria].
Topics: Adult; Brain; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2011 |
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Topics: Age of Onset; Amino Acids; Child, Preschool; Developmental Disabilities; Female; Gas Chromatography-Mass Spectrometry; Health Services Accessibility; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Pigmentation Disorders; Retrospective Studies; Speech Disorders; Tunisia | 2011 |
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Topics: Animals; DNA Primers; Genetic Therapy; Hepatocytes; Hydrolases; Liver; Liver Regeneration; Mice; Mice, Mutant Strains; Models, Biological; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction | 2011 |
Regular exercise prevents oxidative stress in the brain of hyperphenylalaninemic rats.
Topics: Animals; Antioxidants; Brain Chemistry; Catalase; Disease Models, Animal; Glutathione Peroxidase; Glycogen; Muscle, Skeletal; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Physical Conditioning, Animal; Rats; Rats, Wistar; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances | 2011 |
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Demography; Diagnostic Techniques and Procedures; Female; Humans; Infant; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors | 2011 |
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biopterins; Brazil; Child; Diagnostic Techniques and Procedures; Diet; Feeding Behavior; Female; Genotype; Humans; Male; Phenotype; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
Bone development in children and adolescents with PKU.
Topics: Adolescent; Bone and Bones; Bone Density; Bone Development; Child; Child Nutrition Disorders; Child Nutrition Sciences; Densitometry; Diet; Energy Intake; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; X-Rays | 2012 |
Pyruvate and creatine prevent oxidative stress and behavioral alterations caused by phenylalanine administration into hippocampus of rats.
Topics: Animals; Antioxidants; Creatine; Energy Metabolism; Exploratory Behavior; Habituation, Psychophysiologic; Hippocampus; Humans; Lipid Peroxidation; Male; Oxidative Stress; Phenylalanine; Phenylketonurias; Pyruvic Acid; Rats; Rats, Wistar | 2012 |
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Topics: Animals; Brain; Catecholamines; Disease Models, Animal; Gene Transfer Techniques; Genetic Therapy; Liver; Mice; Mice, Transgenic; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin | 2012 |
Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers.
Topics: Diet, Protein-Restricted; Dietary Proteins; European Union; Food; Government Programs; Humans; Phenylalanine; Phenylketonurias; Reimbursement Mechanisms | 2012 |
Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI.
Topics: Adolescent; Adult; Brain; Brain Mapping; Child; Female; Humans; Magnetic Resonance Imaging; Male; Neural Pathways; Phenylalanine; Phenylketonurias; Rest; Young Adult | 2012 |
Novel pharmacological chaperones that correct phenylketonuria in mice.
Topics: Animals; Binding Sites; Biopterins; Catalytic Domain; Cell Line, Tumor; Cell Survival; Drug Discovery; Drug Evaluation, Preclinical; Enzyme Stability; Humans; Hydantoins; Mice; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Small Molecule Libraries; Uracil | 2012 |
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).
Topics: Adolescent; Arginine; Atherosclerosis; Blood Glucose; Cardiovascular Diseases; Child; Cross-Sectional Studies; Female; Homocysteine; Humans; Lipid Metabolism; Male; Nitric Oxide; Nitric Oxide Synthase; Oxidative Stress; Phenylalanine; Phenylketonurias | 2012 |
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.
Topics: Absorptiometry, Photon; Adolescent; Adult; Alkaline Phosphatase; Bone Density; Calcium; Child; Child, Preschool; Cross-Sectional Studies; Diet; Female; Humans; Infant; Infant, Newborn; Lumbar Vertebrae; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Vitamin B 12 Deficiency; Young Adult | 2012 |
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Topics: Animals; Biopterins; Brain; Cells, Cultured; Chlorocebus aethiops; Chromatography, Liquid; COS Cells; Humans; Isotope Labeling; Kidney; Liver; Mice; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry; Tyrosine | 2012 |
The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.
Topics: Antineoplastic Agents; Child; Disease Management; Hospitalization; Humans; Lymphoma; Male; Parenteral Nutrition; Phenylalanine; Phenylketonurias | 2012 |
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.
Topics: Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Infant, Newborn; Nitric Oxide; Patient Selection; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Prognosis | 2012 |
Reversal of metabolic and neurological symptoms of phenylketonuric mice treated with a PAH containing helper-dependent adenoviral vector.
Topics: Adenoviridae; Animals; Disease Models, Animal; Electrophysiology; Genetic Therapy; Genetic Vectors; Humans; Learning Disabilities; Mice; N-Methylaspartate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pigmentation; Tyrosine | 2012 |
Cultural aspects in the management of inborn errors of metabolism.
Topics: Austria; Child; Communication; Cultural Characteristics; Emigration and Immigration; Ethnicity; Family Characteristics; Female; Humans; Language; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Socioeconomic Factors; Turkey | 2012 |
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
Topics: Age Factors; Biopterins; Child, Preschool; Female; France; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Treatment Outcome | 2012 |
Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria.
Topics: Analysis of Variance; Child; Female; Humans; Intellectual Disability; Intelligence; Logistic Models; Male; Phenylalanine; Phenylketonurias; Social Class; Wechsler Scales | 2012 |
Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet.
Topics: Adolescent; Adult; Budgets; Comorbidity; Cost-Benefit Analysis; Female; Health Care Costs; Health Resources; Humans; Incidence; Male; Models, Econometric; Outcome Assessment, Health Care; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies; State Medicine; United Kingdom | 2013 |
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
Topics: Biopterins; Cohort Studies; Diet; Diet Therapy; Female; Genetic Variation; Humans; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polycyclic Aromatic Hydrocarbons | 2012 |
Depressive symptoms in adolescents with early and continuously treated phenylketonuria: associations with phenylalanine and tyrosine levels.
Topics: Adolescent; Depression; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 2012 |
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Topics: Animals; Biopterins; Disease Models, Animal; Female; Hydroxylation; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
Breast-feeding success among infants with phenylketonuria.
Topics: Breast Feeding; Female; Humans; Infant; Infant Formula; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Time Factors | 2012 |
Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria.
Topics: Amyloid; Animals; Antibodies; Biophysics; CHO Cells; Cricetinae; Hippocampus; Humans; Immunoprecipitation; Mice; Models, Molecular; Parietal Lobe; Phenylalanine; Phenylketonurias; Protein Conformation; Rabbits | 2012 |
Commentary: What degree of hyperphenylalaninaemia requires treatment?
Topics: Humans; Intelligence; Phenylalanine; Phenylketonurias | 2012 |
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Topics: Biopterins; Child; Child, Preschool; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Treatment Outcome | 2012 |
High prevalence of overweight and obesity in females with phenylketonuria.
Topics: Adolescent; Adult; Body Mass Index; Child; Child, Preschool; Diet; Female; Humans; Infant Formula; Male; Obesity; Overweight; Phenylalanine; Phenylketonurias; Prevalence; Sex Factors; Young Adult | 2012 |
Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.
Topics: Cell- and Tissue-Based Therapy; Child; Female; Glycogen Storage Disease Type I; Half-Life; Hepatocytes; Humans; Infant; Liver Function Tests; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
50 years ago in the Journal of Pediatrics: comparison of serum phenylalanine levels with growth in Guthrie's inhibition assay in newborn infants.
Topics: History, 20th Century; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Sensitivity and Specificity; Tandem Mass Spectrometry | 2012 |
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult | 2012 |
New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Reproducibility of Results; Spain; Treatment Outcome; Young Adult | 2012 |
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAHENU2 mice.
Topics: Amino Acids; Amino Acids, Cyclic; Aminoisobutyric Acids; Animals; Brain; Down-Regulation; Drug Evaluation, Preclinical; Female; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Models, Biological; Molecular Targeted Therapy; Norleucine; Phenylalanine; Phenylketonurias; Pilot Projects | 2013 |
A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Case-Control Studies; Caudate Nucleus; Child; Cognition; Dopamine; Female; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Nucleus Accumbens; Organ Size; Phenylalanine; Phenylketonurias; Putamen | 2012 |
Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet.
Topics: Absorptiometry, Photon; Animals; Biomechanical Phenomena; Bone Density; Caseins; Diet, Protein-Restricted; Elastic Modulus; Female; Femur; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Peptide Fragments; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.
Topics: Adolescent; Biomarkers, Pharmacological; Biopterins; Child; Child, Preschool; Disease Management; Drug Administration Schedule; Female; Humans; Long-Term Care; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Tyrosine | 2012 |
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
Topics: Adolescent; Adult; Child; Child, Preschool; China; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Retrospective Studies; Young Adult | 2013 |
Role of catalase and superoxide dismutase activities on oxidative stress in the brain of a phenylketonuria animal model and the effect of lipoic acid.
Topics: Animals; Brain; Catalase; Disease Models, Animal; DNA Damage; Enzyme Inhibitors; Female; Lipid Peroxidation; Male; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Wistar; Superoxide Dismutase; Thioctic Acid | 2013 |
Use of sapropterin in the management of phenylketonuria: seven case reports.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Male; Medication Adherence; Phenylalanine; Phenylketonurias; Quality of Life; Treatment Outcome; Young Adult | 2013 |
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Parents; Peer Group; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires; Underachievement | 2013 |
Breastfeeding follow-up in the treatment of children with phenylketonuria.
Topics: Breast Feeding; Child Development; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 2012 |
Psychiatric symptoms in adults with phenylketonuria.
Topics: Adolescent; Adult; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Psychotic Disorders; Research Design; Retrospective Studies; Severity of Illness Index; Surveys and Questionnaires | 2013 |
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine | 2013 |
Newborn screening of phenylketonuria using direct analysis in real time (DART) mass spectrometry.
Topics: Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2013 |
How practical are recommendations for dietary control in phenylketonuria?
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Multicenter Studies as Topic; Patient Compliance; Phenylalanine; Phenylketonurias; Treatment Outcome | 2002 |
Growth parameters in newborns with hyperphenylalaninaemia.
Topics: Birth Weight; Body Height; Case-Control Studies; Cephalometry; Female; Fetal Growth Retardation; Gestational Age; Humans; Infant, Newborn; Italy; Male; Phenylalanine; Phenylketonurias; Pregnancy | 2002 |
Measurement of phenylalanine in blood on filter paper as a method of monitoring PKU treatment.
Topics: Blood Specimen Collection; Child; Child, Preschool; Colorimetry; Fluorometry; Humans; Infant; Paper; Phenylalanine; Phenylketonurias; Poland; Reference Values; Regression Analysis; Software; Treatment Outcome | 2002 |
In vivo effects of high phenylalanine blood levels on Na+,K+-ATPase, Mg2+-ATPase activities and biogenic amine concentrations in phenylketonuria.
Topics: Amino Acids, Aromatic; Analysis of Variance; Biogenic Amines; Ca(2+) Mg(2+)-ATPase; Child; Erythrocyte Membrane; Humans; Phenylalanine; Phenylketonurias; Sodium-Potassium-Exchanging ATPase; Statistics as Topic | 2002 |
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
Topics: Administration, Oral; Biopterins; Dose-Response Relationship, Drug; Drug Administration Schedule; Female; Follow-Up Studies; Humans; Infant; Male; Mutation; Phenylalanine; Phenylketonurias; Severity of Illness Index; Treatment Outcome | 2002 |
Protein insufficiency and linear growth restriction in phenylketonuria.
Topics: Adolescent; Body Height; Body Mass Index; Child; Child Welfare; Child, Preschool; Female; Growth; Humans; Male; New York; Phenylalanine; Phenylketonurias; Prealbumin; Protein Deficiency; Proteins; Regression Analysis; Statistics as Topic | 2002 |
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
Topics: Adult; Biomarkers; Case-Control Studies; Female; Heterozygote; Humans; Italy; Male; Matched-Pair Analysis; Middle Aged; Mutation; Phenylalanine; Phenylketonurias; Statistics, Nonparametric; Tyrosine | 2002 |
No evidence for individual blood-brain barrier phenylalanine transport to influence clinical outcome in typical phenylketonuria patients.
Topics: Adult; Blood-Brain Barrier; Humans; Phenylalanine; Phenylketonurias; Treatment Outcome | 2002 |
The phenylketonuria mouse model: a meeting review.
Topics: Animals; Disease Models, Animal; Genetic Therapy; Mice; Neurochemistry; Phenylalanine; Phenylketonurias | 2002 |
The impact of phenylketonuria on folate metabolism.
Topics: Biopterins; Chromatography, High Pressure Liquid; Coenzymes; Folic Acid; Homocysteine; Humans; Immunoassay; Phenylalanine; Phenylketonurias | 2002 |
Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria.
Topics: Blotting, Southern; Fibroblasts; Genetic Therapy; Genetic Vectors; GTP Cyclohydrolase; Humans; Keratinocytes; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retroviridae | 2002 |
Oxidative stress induced by phenylketonuria in the rat: Prevention by melatonin, vitamin E, and vitamin C.
Topics: Animals; Animals, Newborn; Antioxidants; Ascorbic Acid; Brain; Cerebellum; Disease Models, Animal; Female; Glutathione; Glutathione Peroxidase; Glutathione Reductase; Humans; Lipid Peroxidation; Melatonin; Nervous System Malformations; Neurons; Oxidative Stress; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects; Rats; Vitamin E | 2002 |
[Rapid high performance liquid chromatography for determination of phenylalanine and tyrosine in serum].
Topics: Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Reference Values; Tyrosine | 2000 |
Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet.
Topics: Child; Child, Preschool; Coronary Artery Disease; Diet, Protein-Restricted; Endothelin-1; Folic Acid; Homocysteine; Humans; Lipids; Nutrition Assessment; Phenylalanine; Phenylketonurias; Risk Factors; Vitamin B 12; Vitamin B 6 | 2002 |
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.
Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies | 2002 |
Study on a novel strategy to treatment of phenylketonuria.
Topics: Administration, Oral; Animals; Genetic Therapy; Lactococcus lactis; Petroselinum; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Plasmids; Rats; Transformation, Genetic; Treatment Outcome | 2002 |
Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry: sensitive newborn screening for phenylketonuria.
Topics: Blood Specimen Collection; Chromatography, Ion Exchange; Fluorometry; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Tyrosine | 2002 |
Gas chromatography-mass spectrometry method for determination of phenylalanine and tyrosine in neonatal blood spots.
Topics: Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Reproducibility of Results; Tyrosine | 2002 |
Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice.
Topics: Animals; Biomarkers; Bone Density; Bone Resorption; Diet; Disease Models, Animal; Femoral Fractures; Femur; Fractures, Bone; Male; Mice; Organ Size; Osteocalcin; Phenylalanine; Phenylketonurias; Weight Gain | 2002 |
[Psychological adjustment of children with phenylketonuria].
Topics: Adaptation, Psychological; Adolescent; Age Factors; Child; Child, Preschool; Data Interpretation, Statistical; Emotions; Humans; Intelligence Tests; Parent-Child Relations; Phenylalanine; Phenylketonurias; Surveys and Questionnaires | 2002 |
Tetrahydrobiopterin and dietary restriction in mild phenylketonuria.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2002 |
Cytoskeleton of human mononuclear cells as a possible peripheral marker for phenylalanine neurotoxicity in PKU.
Topics: Animals; Biomarkers; Cytoskeleton; Electrophoresis, Polyacrylamide Gel; Humans; In Vitro Techniques; Monocytes; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar | 2002 |
The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria.
Topics: Adolescent; Adult; Bone Density; Bone Diseases, Metabolic; Child; Child, Preschool; Female; Humans; Male; Phenylalanine; Phenylketonurias; Retrospective Studies | 2002 |
Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria.
Topics: Adolescent; Attention; Case-Control Studies; Child; Cognition Disorders; Female; Humans; Inhibition, Psychological; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance | 2002 |
Cerebral energy metabolism in phenylketonuria: findings by quantitative In vivo 31P MR spectroscopy.
Topics: Adult; Brain; Electroencephalography; Energy Metabolism; Female; Humans; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias; Phosphorus Isotopes; Radionuclide Imaging | 2003 |
Hyperphenylalaninemia reduces creatine kinase activity in the cerebral cortex of rats.
Topics: Animals; Cerebral Cortex; Creatine Kinase; Enzyme Inhibitors; In Vitro Techniques; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar | 2003 |
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Topics: Female; Genotype; Humans; Lithuania; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
Topics: Administration, Oral; Amino Acid Substitution; Biopterins; Child; Drug Administration Schedule; Humans; Infant; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
Simultaneous measurement of phenylalanine and tyrosine in phenylketonuric plasma and dried blood by high-performance liquid chromatography.
Topics: Animals; Calibration; Chromatography, High Pressure Liquid; Female; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Rats, Sprague-Dawley; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet; Tyrosine | 2003 |
A different approach to breast-feeding of the infant with phenylketonuria.
Topics: Bottle Feeding; Breast Feeding; Female; Food, Formulated; Humans; Infant Food; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Statistics, Nonparametric | 2003 |
Tetrahydrobiopterin and mild phenylketonuria.
Topics: Biopterins; Humans; Phenotype; Phenylalanine; Phenylketonurias; Research Design | 2003 |
Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
Topics: Chromatography, High Pressure Liquid; Gene Frequency; Humans; Institutionalization; Intellectual Disability; Iran; Leukocytes; Mass Screening; Microbial Sensitivity Tests; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Restriction Mapping | 2003 |
Autism and phenylketonuria.
Topics: Adolescent; Adult; Autistic Disorder; Child; Child, Preschool; Comorbidity; Female; Humans; Male; Personality Assessment; Phenylalanine; Phenylketonurias; Risk Factors | 2003 |
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
Topics: Biopterins; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria.
Topics: Animals; Disease Models, Animal; Emotions; Exploratory Behavior; Genotype; Heterozygote; Homozygote; Humans; Intellectual Disability; Maze Learning; Mice; Mice, Inbred Strains; Phenylalanine; Phenylketonurias; Space Perception | 2003 |
Relationship between myelin production and dopamine synthesis in the PKU mouse brain.
Topics: Animals; Blotting, Western; Brain; Brain Chemistry; Corpus Striatum; Disease Models, Animal; Dopamine; Food, Formulated; Frontal Lobe; Male; Mice; Mice, Mutant Strains; Myelin Basic Protein; Myelin Sheath; Neurofilament Proteins; Phenylalanine; Phenylketonurias; Phosphorylation; Tyrosine; Tyrosine 3-Monooxygenase | 2003 |
Plasma thiols and their determinants in phenylketonuria.
Topics: Adolescent; Cross-Sectional Studies; Cysteine; Female; Folic Acid; Glutathione; Homocysteine; Humans; Male; Methionine; Phenylalanine; Phenylketonurias; Sulfhydryl Compounds; Vitamin B 12 | 2003 |
Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuria.
Topics: Adolescent; Age Factors; Case-Control Studies; Child; Female; Humans; Male; Motor Skills; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reaction Time; Task Performance and Analysis | 2003 |
Timing is everything: executive functions in children exposed to elevated levels of phenylalanine.
Topics: Adolescent; Age of Onset; Attention; Attention Deficit Disorder with Hyperactivity; Brain; Case-Control Studies; Child; Cognition Disorders; Female; Humans; Male; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Disorders; Time Factors; Verbal Learning | 2003 |
Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy.
Topics: Body Height; Body Weight; Child; Child Nutritional Physiological Phenomena; Child, Preschool; Dietary Proteins; Eating; Energy Intake; Female; Food, Formulated; Growth; Humans; Longitudinal Studies; Male; Nutrition Policy; Nutritional Requirements; Obesity; Phenylalanine; Phenylketonurias; Tyrosine; United States | 2003 |
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
Topics: Adolescent; Amino Acids; Biopterins; Depression; Dietary Supplements; Dose-Response Relationship, Drug; Headache; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Somatotypes | 2003 |
Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1953 |
The hydroxylation of phenylalanine and antipyrine in phenylpyruvic oligophrenia.
Topics: Analgesics; Antipyrine; Humans; Hydroxylation; Intellectual Disability; Phenylalanine; Phenylketonurias | 1953 |
Influence of phenylalanine intake on phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias | 1953 |
Phenylalanine and tyrosine metabolism in patients with phenylketonuria.
Topics: Humans; Ketones; Phenylalanine; Phenylketonurias; Tyrosine; Urine | 1953 |
Phenylketonuria.
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1954 |
Treatment of phenylketonuria with a diet low in phenylalanine.
Topics: Diet; Diet, Reducing; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1955 |
[Some experiments on phenylalanine- and tyrosine metabolism in a patient with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1956 |
Phenylketonuria; a case report in a European child treated with a diet low in phenylalanine.
Topics: Child; Diet; Ethnicity; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1956 |
Detection of the heterozygous carriers of phenylketonuria.
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias | 1956 |
Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria.
Topics: Drug Tolerance; Heterozygote; Humans; Immune Tolerance; Phenylalanine; Phenylketonurias | 1956 |
Studies on phenylketonuria. V. Observations on a newborn infant with phenylketonuria.
Topics: Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1956 |
Phenylalanine-restricted diets in the treatment of phenylketonuria.
Topics: Diet; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1956 |
Competitive inhibition of mammalian tyrosinase by phenylalanine and its relationship to hair pigmentation in phenylketonuria.
Topics: Animals; Hair; Humans; Intellectual Disability; Monophenol Monooxygenase; Phenylalanine; Phenylketonurias; Pigmentation; Tyrosine | 1957 |
Phenylketonuria VIII. Relation between age, serum phenylalanine level, and phenylpyruvic acid excretion.
Topics: Biochemical Phenomena; Biological Transport; Body Fluids; Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1957 |
[Investigations of phenylalanine and tyrosine metabolism in a child with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine | 1956 |
Effect of phenylalanine-restricted diet in phenylketonuria. II.
Topics: Diet; Diet, Reducing; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1957 |
Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia.
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1957 |
The dietary phenylalanine requirements and tolerances of phenylketonuric patients.
Topics: Biochemical Phenomena; Humans; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1957 |
Phenylketonuria with normal intelligence and Gowers' muscular dystrophy.
Topics: Humans; Intelligence; Medical Records; Muscular Dystrophies; Phenylalanine; Phenylketonurias | 1957 |
Heterozygous carriers of phenylketonuria detected by phenylalanine tolerance tests.
Topics: Drug Tolerance; Heredity; Heterozygote; Humans; Immune Tolerance; Phenylalanine; Phenylketonurias | 1957 |
Method for determination of serum phenylalanine with use of the Kapeller-Adler reaction.
Topics: Humans; Phenylalanine; Phenylketonurias | 1957 |
[Excretion of phenylalanine in two patients with phenylpyruvic oligophrenia].
Topics: Biological Transport; Body Fluids; Humans; Phenylalanine; Phenylketonurias | 1957 |
Phenylalanine tolerance tests on relatives of phenylketonuric children.
Topics: Child; Heredity; Humans; Phenylalanine; Phenylketonurias | 1957 |
Excretion of phenylalanine; report of two cases of phenyl pyruvic acid oligophrenia.
Topics: Biological Transport; Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvic Acid | 1957 |
Inhibition of 5-hydroxytryptophan decarboxylase by phenylalanine metabolites.
Topics: Aromatic-L-Amino-Acid Decarboxylases; Biochemical Phenomena; Humans; Phenylalanine; Phenylketonurias | 1958 |
A one-year, controlled study of the effect of low-phenylalanine diet on phenylketonuria.
Topics: Diet; Humans; Phenylalanine; Phenylketonurias; Research Design | 1958 |
Psychometabolic changes in phenylketonuria treated with low-phenylalanine diet.
Topics: Diet; Humans; Phenylalanine; Phenylketonurias | 1958 |
[Evaluation of the success of dietetic treatment with casein hydrolysate low in phenylalanine in phenylpyruvic oligophrenia].
Topics: Caseins; Dietetics; Humans; Phenylalanine; Phenylketonurias | 1958 |
A reliable paper-strip method for the detection of phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias | 1958 |
Chemical and clinical observations during treatment of children with phenylketonuria.
Topics: Child; Humans; Phenylalanine; Phenylketonurias | 1958 |
Phenylketonuria: the phenylalanine-tyrosine ratio in the detection of the heterozygous carrier.
Topics: Biochemical Phenomena; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1958 |
Enzyme deficiency diseases. IIa. A phenylalanine-restricted diet.
Topics: Diet; Humans; Metabolic Diseases; Phenylalanine; Phenylketonurias | 1958 |
[Phenylketonurie].
Topics: Body Fluids; Humans; Phenylalanine; Phenylketonurias | 1958 |
Phenylketonuria.
Topics: Body Fluids; Humans; Phenylalanine; Phenylketonurias | 1958 |
o-Hydroxyphenylacetic acid excretion in the phenylalanine tolerance test for carriers of phenylketonuria.
Topics: Humans; Phenylacetates; Phenylalanine; Phenylketonurias | 1958 |
Phenylalanine hydroxylation cofactor in phenylketonuria.
Topics: Biological Assay; Hydroxylation; Phenylalanine; Phenylketonurias; Tyrosine | 1958 |
Phenylketonuria treated from earliest infancy; report of three cases.
Topics: Biochemical Phenomena; Humans; Phenylalanine; Phenylketonurias | 1959 |
5-HYDROXYTRYPTOPHAN decarboxylase and phenylketonuria.
Topics: Aromatic-L-Amino-Acid Decarboxylases; Humans; Lyases; Phenylalanine; Phenylketonurias | 1959 |
Relationship of serum phenylalanine levels and ability of phenylketonurics to hydroxylate tryptophan.
Topics: Biochemical Phenomena; Humans; Hydroxylation; Phenylalanine; Phenylketonurias; Tryptophan | 1959 |
Hypoglycemia complicating treatment of phenylketonuria with a phenylalanine-deficient diet; report of two cases.
Topics: Diet; Humans; Hypoglycemia; Phenylalanine; Phenylketonurias | 1959 |
Phenylpyruvic acid as a possible precursor of o-hydroxyphenylacetic acid in man.
Topics: Administration, Oral; Humans; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1959 |
Phenylketonuria with normal intelligence.
Topics: Biochemical Phenomena; Humans; Intelligence; Phenylalanine; Phenylketonurias | 1961 |
Phenylalanine metabolism in the phenylpyruvic condition. I. Distribution, pool size, and turnover rate in human phenylketonuria.
Topics: Environment; Humans; Phenylalanine; Phenylketonurias | 1961 |
The metabolism of indole-compounds in phenvlketonuria.
Topics: Biochemical Phenomena; Indoles; Phenylalanine; Phenylketonurias | 1961 |
The excretion of 5-hydroxyindoleacetic acid in the heterozygous carrier for phenylketonuria.
Topics: Biological Transport; Humans; Hydroxyindoleacetic Acid; Indoleacetic Acids; Intellectual Disability; Phenylalanine; Phenylketonurias | 1961 |
Phenylketonuria treated with a high phenylalanine intake and casein-hydrolysate/aminoacid mixtures.
Topics: Amino Acids; Caseins; Diet; Humans; Nutrition Assessment; Nutritional Status; Phenylalanine; Phenylketonurias | 1961 |
The problem of phenylketonuria.
Topics: Biochemical Phenomena; Humans; Phenylalanine; Phenylketonurias | 1961 |
A note on the effect of phenylalanine on the blood sugar in phenylketonuria.
Topics: Blood Glucose; Humans; Phenylalanine; Phenylketonurias | 1961 |
[Problems in the field of phenylpyruvic oligophrenia. 1. Effectiveness of low-phenylalanine diet. 2. Usefulness of the phenylalanine tolerance test for the study of the genetics of the disease].
Topics: Coloring Agents; Diet; Hematologic Tests; Humans; Immune Tolerance; Phenylalanine; Phenylketonurias | 1960 |
[Observations on the treatment of a case of phenylketonuria with a diet deficient in phenylalanine].
Topics: Diet; Humans; Phenylalanine; Phenylketonurias | 1960 |
Phenylketonuria with borderline and normal intelligence.
Topics: Humans; Intelligence; Medical Records; North Carolina; Phenylalanine; Phenylketonurias | 1961 |
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine | 1961 |
Phenylketonuria in infant monkeys.
Topics: Animals; Behavior; Body Fluids; Haplorhini; Humans; Infant; Phenylalanine; Phenylketonurias | 1960 |
Increased reliability for the determination of the carrier state in phenylketonuria.
Topics: Carrier State; Genetics, Medical; Humans; Phenylalanine; Phenylketonurias; Reproducibility of Results | 1961 |
Aminoaciduria and mental retardation. II. Phenylpyruvic oligophrenia, phenylketonuria (PKU).
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1961 |
[Determination of phenylalanine and phenylpyruvic acid in the blood and urine. Application to two cases of phenylpyruvic oligophrenia].
Topics: Body Fluids; Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1959 |
The influence of a diet with a low phenylalanine content on a case of phenylketonuria.
Topics: Diet; Diet Therapy; Humans; Nutrition Assessment; Nutritional Status; Phenylalanine; Phenylketonurias | 1959 |
[A study of two cases of phenylpyruvic oligophrenia treated by a diet low in phenylalanine].
Topics: Diet; Phenylalanine; Phenylketonurias | 1959 |
Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1962 |
Two-dose phenylalanine tolerance test for detection of phenylketonuric heterozygotes. Value of tyrosine responses.
Topics: Disease; Diseases in Twins; Drug Tolerance; Heterozygote; Humans; Immune Tolerance; Phenylalanine; Phenylketonurias; Twins; Tyrosine | 1961 |
Use of micromethod for phenylalanine in management of phenylketonuric patients.
Topics: Humans; Microchemistry; Phenylalanine; Phenylketonurias | 1962 |
Problems of routine screening for phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1962 |
Biochemical studies on phenylketonuria I. Experimental hyperphenylalanemia in the rat.
Topics: Animals; Phenylalanine; Phenylketonurias; Rats | 1961 |
Conversion of phenylalanine to phenethylamine in patients with phenylketonuria.
Topics: Ethylamines; Humans; Phenethylamines; Phenylalanine; Phenylketonurias | 1963 |
Variations with age in plasma phenylalanine and tyrosine levels in phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Plasma; Tyrosine | 1963 |
Studies on phenylketonuria. II. The excretion of N-acetyl-L-phenylalanine in phenylketonuria.
Topics: Biological Transport; Body Fluids; Humans; Phenylalanine; Phenylketonurias | 1963 |
[Studies on the enzymatic and genetic system in phenylalanine metabolism disorders].
Topics: Biochemical Phenomena; Enzymes; Geniculate Bodies; Humans; Intellectual Disability; Metabolic Diseases; Phenylalanine; Phenylketonurias; Tyrosine | 1962 |
[Simple methods for the diagnosis of phenylalaninuria].
Topics: Humans; Phenylalanine; Phenylketonurias | 1962 |
Experiences in the detection and treatment of phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias | 1963 |
[Paper chromatographic determination of phenylalanine for evaluation and control of therapy of phenylketonuria].
Topics: Humans; Phenylalanine; Phenylketonurias | 1963 |
Balance studies in phenylketonuria. Quantitative effects of dietary restriction of phenylalanine.
Topics: Diet; Diet Therapy; Humans; Phenylalanine; Phenylketonurias; Research | 1963 |
Phenylalanine metabolism in control subjects, mental patients, and phenylketonurics.
Topics: Biochemical Phenomena; Humans; Mental Disorders; Mentally Ill Persons; Phenylalanine; Phenylketonurias; Psychotic Disorders; Tyrosine | 1962 |
Effects of folic acid on the phenylalanine tolerance test in phenylketonuria.
Topics: Antimetabolites; Child; Drug Tolerance; Folic Acid; Humans; Immune Tolerance; Phenylalanine; Phenylketonurias; Tyrosine | 1962 |
Role of phenylalanine excess in experimental phenylketonuria.
Topics: Phenylalanine; Phenylketonurias | 1962 |
Experimental phenylketonuria in rats.
Topics: Animals; Biochemical Phenomena; Phenylalanine; Phenylketonurias; Rats | 1961 |
PHENYLKETONURIA.
Topics: Chromatography; Phenylalanine; Phenylketonurias | 1963 |
[OUR OBSERVATIONS ON THE PROBLEM OF THE TREATMENT OF PHENYLKETONURIA].
Topics: Child; Humans; Infant; Phenylalanine; Phenylketonurias | 1963 |
[PHENYLKETONURIA. APROPOS OF A FAMILIAL CASE].
Topics: Blood Chemical Analysis; Body Fluids; Diet; Diet Therapy; Electroencephalography; Genetics, Medical; Humans; Infant; Iproniazid; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyridoxine; Tryptophan; Urine | 1963 |
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias | 1963 |
EXCRETION OF PHENYLALANINE BY NORMAL CHILDREN AND BY PATIENTS WITH PHENYLKETONURIA.
Topics: Child; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Urine | 1963 |
A QUANTITATIVE METHOD OF DETERMINING URINARY PHENOLS.
Topics: Adolescent; Body Fluids; Child; Chromatography; Humans; Infant; Phenols; Phenylalanine; Phenylketonurias; Research; Urine | 1963 |
A STUDY OF THE INCIDENCE OF PHENYLKETONURIA IN INDIA.
Topics: Blood; Consanguinity; Epidemiology; Family; Humans; Incidence; India; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pigmentation; Urine | 1963 |
A DIRECT MICROBIOLOGICAL ASSAY FOR URINE PHENYLALANINE IN PHENYLKETONURIC SCREENING.
Topics: Biological Assay; Chromatography; Humans; Infant; Infant, Newborn; Kidney; Metabolism; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Research; Urine | 1963 |
EXCRETION OF INDOLYL ACIDS IN PHENYLKETONURIC MONKEYS.
Topics: Animals; Body Fluids; Haplorhini; Humans; Indoleacetic Acids; Indoles; Lactates; Metabolism; Phenylalanine; Phenylketonurias; Pyruvates; Research; Tryptophan; Urine | 1963 |
PHENYLKETONURIA AND THE GUTHRIE TEST.
Topics: Blood Chemical Analysis; Hematologic Tests; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1963 |
TERMINATION OF DIETARY TREATMENT FOR PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Psychology, Child | 1963 |
MECHANISMS FOR THE DECREASE OF BRAIN SEROTONIN.
Topics: 5-Hydroxytryptophan; Animals; Animals, Newborn; Blood Chemical Analysis; Brain; Carboxy-Lyases; Dietary Proteins; Guinea Pigs; Indoles; Monoamine Oxidase; Phenylalanine; Phenylketonurias; Proteins; Pyridoxal Phosphate; Research; Serotonin | 1963 |
DETECTION OF PHENYLKETONURIA: AN INSTITUTIONAL SCREENING PROGRAM.
Topics: Blood Chemical Analysis; Humans; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias; Specimen Handling; Urine | 1963 |
PHENYLKETONURIA PRESENTING AS INFANTILE SPASMS WITH SUDDEN MENTAL DETEORIATION.
Topics: Adrenocorticotropic Hormone; Diet; Diet Therapy; Electroencephalography; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Spasm; Spasms, Infantile | 1963 |
[RECENT KNOWLEDGE ABOUT THE PROBLEM OF PHENYLPYRUVIC OLIGOPHRENIA. FREQUENCY, GENETICS, BIOCHEMISTRY, DIAGNOSIS, AND THERAPEUTICS].
Topics: Asparagine; Biochemistry; Diet; Diet Therapy; Genetics, Medical; Glutamine; Humans; Knowledge; Nialamide; Pathology; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Prognosis; Urine | 1963 |
SCREENING NEWBORN INFANTS FOR PHENYLKETONURIA.
Topics: Biomedical Research; Blood Chemical Analysis; Humans; Illinois; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Neonatal Screening; Phenylalanine; Phenylketonurias; Statistics as Topic | 1964 |
DEFECTIVE 5-HYDROXYLATION OF TRYPTOPHAN IN PHENYLKETONURIA.
Topics: Blood Chemical Analysis; Body Fluids; Humans; Hydroxyindoleacetic Acid; Hydroxylation; Indoleacetic Acids; Indoles; Metabolism; Phenylalanine; Phenylketonurias; Serotonin; Tryptamines; Tryptophan; Urine | 1964 |
NUTRITION RESEARCH IN PAEDIATRICS.
Topics: Canada; Child; Diet; Diet Therapy; Epilepsy; Epilepsy, Absence; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Pediatrics; Phenylalanine; Phenylketonurias; Pyridoxine; Research; Scurvy | 1964 |
CLINICAL ASPECTS OF PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Physiological Phenomena | 1964 |
ROENTGENOLOGIC BONE CHANGES IN PHENYLKETONURIA. RELATION TO DIETARY PHENYLALANINE AND SERUM ALKALINE PHOSPHATASE.
Topics: Alkaline Phosphatase; Body Weight; Bone and Bones; Diet; Diet Therapy; Dietary Proteins; Epiphyses; Growth; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Radiography | 1964 |
URINARY PHENYLPYRUVIC ACID IN PHENYLKETONURIA.
Topics: Blood Chemical Analysis; Chlorides; Chromatography; Humans; Infant; Infant, Newborn; Iron; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Urine | 1964 |
[FROM WORK IN THE FIELD OF CLINICAL PHYSIOLOGY OF NUTRITION IN THE YEAR 1962].
Topics: Child; Diet; Diet Therapy; Electrophoresis; Germany; Germany, East; Humans; Infant; Nutritional Physiological Phenomena; Nutritional Sciences; Nutritional Status; Phenylalanine; Phenylketonurias; Rats; Research | 1963 |
PHENYLKETONURIA: A REPORT ON THE GUTHRIE SCREENING TEST.
Topics: Biological Assay; Blood Chemical Analysis; Hematologic Tests; Humans; Infant; Infant, Newborn; Ireland; Phenylalanine; Phenylketonurias | 1964 |
PHENYLKETONURIA.
Topics: Diagnosis; Diet; Diet Therapy; Humans; Phenylalanine; Phenylketonurias; Urine | 1964 |
PHENYLALANINE LEVELS.
Topics: Blood Chemical Analysis; Body Fluids; Diagnosis, Differential; Diet; Diet Therapy; Humans; Nutrition Disorders; Phenylalanine; Phenylketonurias; Urine | 1964 |
[PHENYLKETONURIA. A REVIEW WITH SPECIAL REFERENCE TO DIAGNOSTIC METHODS].
Topics: Blood Chemical Analysis; Child; Denmark; Epidemiology; Genetics, Medical; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Urine | 1964 |
SEROTONIN DEFICIENCY IN INFANCY AS ONE CAUSE OF A MENTAL DEFECT IN PHENYLKETONURIA.
Topics: Animals; Animals, Newborn; Behavior; Catecholamines; Chlorpromazine; Genetics; Learning; Metabolic Diseases; Metabolism; Mice; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Research; Reserpine; Serotonin; Toxicology; Tyrosine | 1964 |
PHENYLKETONURIA.
Topics: Body Fluids; Caseins; Child; Diet; Diet Therapy; Eczema; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism; Microcephaly; Phenylalanine; Phenylketonurias; Urine | 1964 |
AMINO ACID METABOLISM IN KWASHIORKOR. II. METABOLISM OF PHENYLALANINE AND TYROSINE.
Topics: Blood Chemical Analysis; Child; Chromatography; Dietary Proteins; Humans; Infant; Kwashiorkor; Milk; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Proteins; Tyrosine; Urine | 1964 |
[MANAGEMENT OF PATIENTS WITH PHENYLKETONURIA].
Topics: Blood; Caseins; Child; Diagnosis; Diet; Diet Therapy; Disease Management; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1964 |
TESTING OF NEWBORN SIBLINGS IN PHENYLKETONURIC FAMILIES.
Topics: Blood Chemical Analysis; Genetics, Medical; Humans; Infant; Infant, Newborn; Phenylacetates; Phenylalanine; Phenylketonurias; Siblings; Urine | 1964 |
PHENYLKETONURIA AND NUTRITION.
Topics: Biochemical Phenomena; Biochemistry; Diagnosis; Diet; Diet Therapy; Genetics, Medical; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1964 |
[PHENYLKETONURIA. (PRELIMINARY REPORT)].
Topics: Chile; Diagnosis; Diet; Diet Therapy; Humans; Infant; Metabolism; Phenylalanine; Phenylketonurias; Prognosis | 1964 |
PHENYLALANINE HYDROXYLASE ACTIVITY IN NEWBORN INFANTS.
Topics: Aging; Black People; Blood Chemical Analysis; Carrier State; Clinical Laboratory Techniques; Diet; Genetics, Medical; Humans; Infant; Infant, Newborn; Laboratories; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Urine; White People | 1964 |
SPECIFIC DETECTION OF PHENYLALANINE FOLLOWING CHROMATOGRAPHIC SEPARATION FROM SERUM AND URINE OF PHENYLKETONURIC.
Topics: Amino Acid Metabolism, Inborn Errors; Bicarbonates; Blood Chemical Analysis; Chromatography; Humans; Indicators and Reagents; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Urine | 1964 |
BRAIN SEROTONIN IN EXPERIMENTAL TYROSINOSIS.
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Blood; Brain; Carboxy-Lyases; Guinea Pigs; Metabolic Diseases; Monoamine Oxidase; Pharmacology; Phenylalanine; Phenylketonurias; Research; Serotonin; Toxicology; Tyrosine | 1964 |
PREVENTION OF A MENTAL DEFECT OF PHENYLKETONURIA WITH SEROTONIN CONGENERS SUCH AS MELATONIN OR HYDROXYTRYPTOPHAN.
Topics: 5-Hydroxytryptophan; Animals; Biomedical Research; Indoles; Learning; Melatonin; Mice; Pharmacology; Phenylalanine; Phenylketonurias; Research; Serotonin; Tyrosine | 1964 |
SOME BIOCHEMICAL LESSONS TO BE LEARNED FROM PHENYLKETONURIA.
Topics: Glutamates; Humans; Indican; Indoleacetic Acids; Indoles; Learning; Metabolism; Phenylacetates; Phenylalanine; Phenylketonurias; Pterins; Serotonin; Tryptophan; Tyrosine | 1964 |
CASE FINDING IN PHENYLKETONURIA. II. THE GUTHRIE TEST.
Topics: Bacteriological Techniques; Biological Assay; Canada; Clinical Laboratory Techniques; Filtration; Hematologic Tests; Hospitalization; Hospitals; Hospitals, Psychiatric; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Laboratories; Mass Screening; Paper; Phenylalanine; Phenylketonurias; Prisons; Urine | 1964 |
DIETARY TREATMENT OF PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism; Phenylalanine; Phenylketonurias | 1964 |
A STATE PROGRAM TO CONTROL PHENYLKETONURIA.
Topics: Adolescent; Blood; Child; Diet; Diet Therapy; Genetics, Medical; Humans; Infant; Intellectual Disability; Kansas; Mass Screening; Phenobarbital; Phenylalanine; Phenylketonurias; Phenytoin; Public Health Nursing; Seizures | 1964 |
CHEMICAL DIAGNOSIS OF PHENYLKETONURIA. REPORT OF 8 CASES.
Topics: Adolescent; Blood Chemical Analysis; Body Fluids; Child; China; Chromatography; Clinical Laboratory Techniques; Genes; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine; Urine | 1964 |
[BIOCHEMICAL STUDIES ON EXPERIMENTAL PHENYLKETONURIA].
Topics: Amino Acids; Animals; Aspartic Acid; Diet; Discrimination Learning; Glutamine; Haplorhini; Phenylalanine; Phenylketonurias; Pyruvates; Rabbits; Rats; Research; Tyrosine | 1964 |
A METHOD FOR FEEDING THE PHENYLKETONURIC INFANT.
Topics: Child; Diet; Diet Therapy; Dietary Proteins; Humans; Infant; Phenylalanine; Phenylketonurias | 1965 |
EFFECT OF A LOW-PHENYLALANINE DIET ON OLDER PHENYLKETONURIA PATIENTS (LONG RANGE CONTROLLED STUDY).
Topics: Adolescent; Behavior; Blood Chemical Analysis; Child; Diet; Diet Therapy; Electroencephalography; Humans; Intelligence Tests; Phenylalanine; Phenylketonurias | 1964 |
BIOCHEMICAL CORRELATES IN RATS WITH PHENYLKETONURIA.
Topics: Blood; Brain Chemistry; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats; Research; Serotonin; Transaminases; Tyrosine | 1964 |
BLOOD PHENYLALANINE LEVELS OF NEWBORN INFANTS. A ROUTINE SCREENING PROGRAM FOR THE HOSPITAL NEWBORN NURSERY.
Topics: Blood; Brain Injuries; Clinical Laboratory Techniques; Hospitals; Hospitals, Community; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Laboratories; Life; Mass Screening; Nurseries, Hospital; Phenylalanine; Phenylketonurias | 1964 |
RECENT STUDIES ON THE METABOLISM OF AROMATIC AMINO ACIDS THAT RELATE TO PHENYLKETONURIA.
Topics: Amino Acids; Amino Acids, Aromatic; Biochemical Phenomena; Phenylalanine; Phenylketonurias | 1965 |
PHENYLKETONURIC FAMILIES.
Topics: Blood Chemical Analysis; Chlorides; Diagnosis; Diet; Diet Therapy; Humans; Infant, Newborn; Iron; Mass Screening; Phenylalanine; Phenylketonurias; Urine | 1965 |
FEEDING THE PHENYLKETONURIC INFANT.
Topics: Diet; Diet Therapy; Dietary Proteins; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1965 |
EXPERIMENTAL PHENYLKETONURIA IN INFANT MONKEYS.
Topics: Animals; Animals, Newborn; Behavior, Animal; Biological Phenomena; Blood; Body Weight; Child; Diet; Growth; Haplorhini; Humans; Infant; Learning; Phenylalanine; Phenylketonurias; Research; Toxicology | 1965 |
THE RELATION OF THE FREE PHENYLALANINE CONTENT OF MOUSE BRAIN TO AGE: ITS POSSIBLE SIGNIFICANCE IN PHENYLKETONURIA.
Topics: Aging; Amino Acids; Animals; Biochemical Phenomena; Brain; Brain Chemistry; Mice; Nitrogen; Phenylalanine; Phenylketonurias; Research | 1964 |
A COMPARISON OF TWO BLOOD PHENYLALANINE ASSAY PROCEDURES IN THE DIAGNOSIS OF PHENYLKETONURIA.
Topics: Biological Assay; Blood Chemical Analysis; Diagnosis; Fluorometry; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1964 |
[CHANGES IN THE TRYPTOPHAN METABOLISM IN PHENYLKETONURIA].
Topics: Amino Acids; Blood; Body Fluids; Child; Humans; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine; Urine | 1964 |
PHENYLALANINE CONTENT OF FRUIT.
Topics: Child; Diet; Diet Therapy; Food Analysis; Fruit; Humans; Infant; Phenylalanine; Phenylketonurias; Vegetables | 1965 |
PHENYLKETONURIA IN VICTORIA.
Topics: Adolescent; Australia; Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pigmentation; Urine; Victoria | 1965 |
PHENYLKETONURIA: EIGHT-YEAR EVALUATION OF TREATMENT.
Topics: Brain; Brain Damage, Chronic; Child; Diet; Diet Therapy; Electroencephalography; Family; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Prognosis; Projective Techniques; Psychological Tests; Psychotherapy | 1965 |
THE GUTHRIE TEST IN MONITORING THE DIET IN PKU: AN APPRAISAL OF ITS APPLICABILITY.
Topics: Blood Chemical Analysis; Diet; Diet Therapy; Electrocardiography; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Monitoring, Physiologic; Phenylalanine; Phenylketonurias | 1965 |
STUDIES ON INHIBITION OF BRAIN 5-HYDROXYTRYPTOPHAN DECARBOXYLASE BY PHENYLALANINE METABOLITES.
Topics: 5-Hydroxytryptophan; Amino Acids; Animals; Antimetabolites; Aromatic-L-Amino-Acid Decarboxylases; Brain; Brain Chemistry; Carboxy-Lyases; Guinea Pigs; Pharmacology; Phenylalanine; Phenylketonurias; Research | 1965 |
ON THE MECHANISM OF THE BRAIN SEROTONIN DEPLETION IN EXPERIMENTAL PHENYLKETONURIA.
Topics: 5-Hydroxytryptophan; Adrenal Glands; Ascorbic Acid; Blood; Brain; Brain Chemistry; Carboxy-Lyases; Cholinesterases; Corticosterone; Dopamine; Glutamates; Liver; Metabolism; Mixed Function Oxygenases; Norepinephrine; Phenylalanine; Phenylketonurias; Rats; Research; Serotonin; Transaminases; Tryptophan; Tyrosine | 1965 |
AN AUTOMATED PROCEDURE FOR BLOOD PHENYLALANINE.
Topics: Automation; Biomedical Research; Blood Chemical Analysis; Dipeptides; Fluorometry; Humans; Mass Screening; Phenylalanine; Phenylketonurias | 1965 |
[STUDY OF PHENYLALANINE CLEARANCE IN THE PHENYLKETONURIC CHILD AND HETEROZYGOSITY TESTS IN AFFECTED FAMILIES].
Topics: Blood; Child; Genetics, Medical; Humans; Infant; Kidney Tubules; Phenylalanine; Phenylketonurias; Urine | 1965 |
UNIMPAIRED LEARNING ABILITY OF RATS MADE ARTIFICIALLY PHENYLKETONURIC DURING FETAL OR NEONATAL LIFE.
Topics: 5-Hydroxytryptophan; Animals; Animals, Newborn; Brain Chemistry; Diet; Discrimination Learning; Fetus; Phenylalanine; Phenylketonurias; Rats; Research; Serotonin; Toxicology | 1965 |
[ON 4 CASES OF PHENYLKETONURIA KEPT ON A PHENYLALANINE-POOR DIET. I: METABOLIC ALTERATIONS].
Topics: Biochemical Phenomena; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1964 |
[BODY HEIGHT AND SKELETAL GROWTH UNDER THE INFLUENCE OF A PHENYLALANINE-POOR DIET].
Topics: Body Height; Bone and Bones; Child; Diet; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias | 1965 |
SERUM PHENYLALANINE LEVELS IN PHENYLPYRUVIC OLIGOPHRENIA.
Topics: Adolescent; Blood; Child; Fluorometry; Humans; Phenylalanine; Phenylketonurias | 1965 |
LEVOMEPROMAZINE (NOZINAN) MEDICATION AS A SOURCE OF ERROR IN THE LABORATORY DIAGNOSIS OF PHENYLKETONURIA.
Topics: Blood; Chlorides; Clinical Laboratory Techniques; Diagnosis; Humans; Indicators and Reagents; Methotrimeprazine; Pharmacology; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Urine | 1965 |
[ON OSTEODYSTROPHY FOLLOWING PHENYLALANINE-POOR NUTRITION. I. CLINICAL AND ROENTGENOLOGICAL STUDIES ON CHILDREN WITH PHENYLKETONURIA].
Topics: Bone Diseases; Bone Diseases, Metabolic; Child; Humans; Infant; Nutrition Disorders; Phenylalanine; Phenylketonurias; Research | 1965 |
ADVANCES IN THE MANAGEMENT OF PATIENT WITH PHENYLKETONURIA.
Topics: Blood; Child; Deficiency Diseases; Diet; Diet Therapy; Disease Management; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Urine | 1965 |
[SOME ASPECTS OF THE DIAGNOSIS OF PHENYLKETONURIA].
Topics: Blood; Diagnosis; Humans; Phenylalanine; Phenylketonurias | 1965 |
[CONTRIBUTION TO THE STUDY OF MENTAL DEFICIENCY ETIOLOGY IN CASES OF INBORN ERRORS OF PHENYLALANINE METABOLISM].
Topics: Biochemical Phenomena; Blood; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1965 |
Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.
Topics: Body Fluids; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Urine | 1955 |
[Diagnosis and therapy of galactosemia and phenylketonuria].
Topics: Blood; Body Fluids; Galactose; Galactosemias; Humans; Phenylalanine; Phenylketonurias; Urine | 1955 |
Detection of heterozygotes for phenylketonuria.
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias | 1960 |
An evaluation of the treatment of phenylketonuria with diets low in phenylalanine.
Topics: Diet; Humans; Nutrition Assessment; Nutritional Status; Phenylalanine; Phenylketonurias | 1960 |
The importance of early diagnosis and treatment of phenylketonuria.
Topics: Early Diagnosis; Humans; Phenylalanine; Phenylketonurias | 1959 |
Phenylketonuria: a linkage study using phenylalanine tolerance tests.
Topics: Genetic Linkage; Humans; Phenylalanine; Phenylketonurias | 1960 |
Clinical management of phenylketonuria.
Topics: Diet; Feeding Behavior; Humans; Nutrition Assessment; Nutritional Status; Phenylalanine; Phenylketonurias | 1962 |
Comparison of serum phenylalanine levels with growth in Guthrie's inhibition assay in newborn infants.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1962 |
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies.
Topics: B-Lymphocytes; Biopterins; Child; Child, Preschool; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; T-Lymphocytes | 2003 |
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Topics: Analysis of Variance; Child; Cognition; Female; Genotype; Humans; Intelligence; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Regression Analysis | 2003 |
Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study.
Topics: Aptitude Tests; Child; Child Development; Child, Preschool; Female; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Linear Models; Longitudinal Studies; Male; Models, Statistical; Mutation; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors | 2003 |
Pregnancy experiences in the woman with mild hyperphenylalaninemia.
Topics: Birth Weight; Body Height; Case-Control Studies; Female; Head; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Mutation; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications; Reference Values | 2003 |
Maternal phenylketonuria: experiences from the United Kingdom.
Topics: Birth Weight; Child; Child, Preschool; Cohort Studies; Diet, Protein-Restricted; Female; Head; Humans; Infant; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy; Prenatal Care; Registries; United Kingdom | 2003 |
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
Topics: Biopterins; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2003 |
Future role of large neutral amino acids in transport of phenylalanine into the brain.
Topics: Amino Acids, Neutral; Animals; Biological Transport; Blood-Brain Barrier; Brain; Disease Models, Animal; Energy Metabolism; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias | 2003 |
Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria.
Topics: Blood-Brain Barrier; Brain; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Phenylalanine; Phenylketonurias | 2003 |
Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.
Topics: Adult; Attention Deficit Disorder with Hyperactivity; Child; Female; Follow-Up Studies; Humans; Male; Mothers; Phenylalanine; Phenylketonurias; Pregnancy; Prospective Studies; Time Factors | 2003 |
Serum levels of neural protein S-100B in phenylketonuria.
Topics: Biomarkers; Central Nervous System; Child; Humans; Magnetic Resonance Imaging; Nerve Growth Factors; Phenylalanine; Phenylketonurias; S100 Calcium Binding Protein beta Subunit; S100 Proteins | 2004 |
Neonatal birth parameters of positive newborns at PKU screening as predictors of false-positive and positive results at recall-testing.
Topics: False Positive Reactions; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Reproducibility of Results; Retrospective Studies | 2003 |
Correlation between plasma and urine phenylalanine concentrations.
Topics: Adolescent; Adult; Aging; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Pilot Projects | 2004 |
Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase.
Topics: Bacterial Proteins; Enzyme Stability; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polyethylene Glycols; Recombinant Proteins; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Succinimides | 2004 |
A study of bone turnover markers in prepubertal children with phenylketonuria.
Topics: Biomarkers; Bone Diseases, Metabolic; Bone Remodeling; Case-Control Studies; Child; Child, Preschool; Diet Therapy; Female; Humans; Male; Phenylalanine; Phenylketonurias; Poland | 2004 |
An atypical case of phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Urine | 1951 |
Excretion of phenylalanine and derivatives in phenylpyruvic oligophrenia.
Topics: Biological Transport; Body Fluids; Intellectual Disability; Phenylalanine; Phenylketonurias | 1950 |
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
Topics: Adolescent; Adult; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires | 2003 |
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.
Topics: Animals; Behavior, Animal; Dependovirus; Genetic Therapy; Genetic Vectors; Liver; Locomotion; Male; Mice; Mice, Transgenic; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Transduction, Genetic | 2004 |
High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin.
Topics: Animals; Brain; Carrier Proteins; gamma-Aminobutyric Acid; Gene Expression Profiling; Gene Expression Regulation; Glutamic Acid; Intracellular Signaling Peptides and Proteins; Mice; Neuropeptides; Oligonucleotide Array Sequence Analysis; Orexins; Phenylalanine; Phenylketonurias; Signal Transduction | 2004 |
Screening programme for phenylketonuria in the Gaza Strip: evaluation and recommendations.
Topics: Consanguinity; Humans; Infant, Newborn; Mass Screening; Middle East; Milk, Human; Phenylalanine; Phenylketonurias; Prevalence | 2004 |
Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria.
Topics: Animals; Copper; Dietary Proteins; Disease Models, Animal; Feces; Intestinal Mucosa; Intestines; Iron; Liver; Male; Mice; Organ Size; Phenylalanine; Phenylketonurias; Zinc | 2004 |
[Alteration of gene expression profiles of cultured embryo rat cortex induced by phenylalanine].
Topics: Animals; Calcium-Calmodulin-Dependent Protein Kinase Type 2; Calcium-Calmodulin-Dependent Protein Kinases; Cells, Cultured; Cerebral Cortex; Embryo, Mammalian; Gene Expression Profiling; Neurons; Oligonucleotide Array Sequence Analysis; Phenylalanine; Phenylketonurias; Random Allocation; Rats; Rats, Sprague-Dawley | 2004 |
The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet.
Topics: Analysis of Variance; Apolipoproteins; Case-Control Studies; Child; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Copper; Female; Humans; Male; Particle Size; Phenylalanine; Phenylketonurias; Trace Elements; Zinc | 2004 |
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria.
Topics: Adolescent; Attention; Attention Deficit Disorder with Hyperactivity; Central Nervous System Stimulants; Child; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prevalence; Retrospective Studies; Tyrosine | 2004 |
Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
Topics: Animals; Cell Line; Dependovirus; Diet Therapy; Disease Models, Animal; Female; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Hair Color; Humans; Liver; Male; Mice; Mice, Knockout; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
[Executive functions in children with phenylketonuria: variations as a function of phenilalanine plasm level].
Topics: Attention; Case-Control Studies; Child Development; Cognition; Female; Humans; Infant; Infant Behavior; Male; Memory; Phenylalanine; Phenylketonurias; Psychomotor Performance; Statistics, Nonparametric | 2004 |
Morning preprandial plasma ghrelin and catecholamine concentrations in patients with phenylketonuria and normal controls: evidence for catecholamine-mediated ghrelin regulation.
Topics: Body Mass Index; Case-Control Studies; Catecholamines; Child; Chromatography, High Pressure Liquid; Circadian Rhythm; Electrochemistry; Energy Intake; Female; Ghrelin; Humans; Male; Osmolar Concentration; Peptide Hormones; Phenylalanine; Phenylketonurias | 2004 |
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.
Topics: Biopterins; Circadian Rhythm; Diet; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Quality of Life | 2004 |
A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum.
Topics: Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Cinnamates; Coumarins; Humans; Indicators and Reagents; Linear Models; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Reference Standards; Reproducibility of Results; Spectrophotometry, Ultraviolet; Tyrosine | 2004 |
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria.
Topics: Diagnosis, Differential; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Infant, Premature; Phenylalanine; Phenylketonurias | 2004 |
Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer.
Topics: Blood Specimen Collection; Case-Control Studies; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Humans; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization; Tyrosine | 2004 |
1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU).
Topics: Adolescent; Adult; Aspartic Acid; Brain Chemistry; Cerebral Ventricles; Choline; Creatine; Female; Humans; Hydrogen; Image Processing, Computer-Assisted; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 2004 |
Studies on oligophrenia phenylpyruvica; microbiological determination of L- and D-phenylalanine and of phenyl lactic acid.
Topics: Acids; Body Fluids; Intellectual Disability; Lactic Acid; Phenylalanine; Phenylketonurias; Urine | 1949 |
[Metabolic disorders and hypopigmentation in phenylpyruvic oligophrenia].
Topics: Albinism, Oculocutaneous; Hair; Hypopigmentation; Intellectual Disability; Phenylalanine; Phenylketonurias; Urine | 1950 |
Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
Topics: Autoradiography; Case-Control Studies; Cells, Cultured; Female; Humans; Japan; Lymphocytes; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Reference Values; Sampling Studies; Sensitivity and Specificity; Tyrosine | 1977 |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment.
Topics: 5-Hydroxytryptophan; Axons; Biopterins; Brain Damage, Chronic; Cerebral Cortex; Child; Child, Preschool; Combined Modality Therapy; Corpus Callosum; Diffusion Magnetic Resonance Imaging; Dominance, Cerebral; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Levodopa; Male; Neonatal Screening; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Pregnancy | 2004 |
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biopterins; Blotting, Western; Gene Deletion; Gene Expression Regulation, Enzymologic; Genes, Recessive; Heterozygote; Humans; Kinetics; Liver; Mice; Mice, Knockout; Mice, Transgenic; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; RNA, Messenger; Transcription, Genetic | 2004 |
Is monoamine oxydase-B a modifying gene and phenylethylamine a harmful compound in phenylketonuria?
Topics: Adult; Child; Female; Humans; Infant, Newborn; Male; Monoamine Oxidase; Phenethylamines; Phenylalanine; Phenylketonurias | 2004 |
Branched chain amino acids as a parameter for catabolism in treated phenylketonuria.
Topics: Adolescent; Adult; Amino Acids, Branched-Chain; Child; Child, Preschool; Diet Therapy; Energy Intake; Female; Humans; Liver Transplantation; Male; Nutritional Status; Phenylalanine; Phenylketonurias | 2005 |
Long-term changes in glutamatergic synaptic transmission in phenylketonuria.
Topics: Animals; Blotting, Western; Brain; Cells, Cultured; Chromatography, Liquid; Disease Models, Animal; Humans; Mass Spectrometry; Mice; Patch-Clamp Techniques; Phenylalanine; Phenylketonurias; Receptors, Glutamate; Receptors, N-Methyl-D-Aspartate; Synaptic Transmission | 2005 |
Plasma phenylalanine in patients with phenylketonuria self-managing their diet.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Parents; Phenylalanine; Phenylketonurias; Self Care | 2005 |
Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review.
Topics: Adult; Brain; Cognition Disorders; Female; Frontal Lobe; Humans; Intelligence; Intelligence Tests; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Temporal Lobe | 2004 |
High protein diet mimics hypertyrosinemia in newborn infants.
Topics: Diagnosis, Differential; Diet Therapy; Dietary Proteins; Female; Humans; Infant Food; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Tyrosine; Tyrosinemias | 2005 |
Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria.
Topics: 8-Hydroxy-2'-Deoxyguanosine; Antioxidants; Biomarkers; Case-Control Studies; Child; Child, Preschool; Deoxyguanosine; Diet; DNA Damage; Female; Humans; Male; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Risk Factors | 2005 |
Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.
Topics: Adult; Cognitive Behavioral Therapy; Depression; Female; Humans; Mothers; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prenatal Care; Surveys and Questionnaires | 2002 |
[Screening for phenylketonuria in 726,998 neonates in Zhejiang Province].
Topics: China; Female; Humans; Incidence; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias | 2005 |
[Effect of phenylalanine on genes expression of Rho GTPases: possible relevance to neuron damage induced by phenylalanine].
Topics: Animals; Brain-Derived Neurotrophic Factor; Cells, Cultured; Female; Gene Expression; Neurons; Phenylalanine; Phenylketonurias; Rats; Rats, Sprague-Dawley; rho GTP-Binding Proteins | 2005 |
Oxidative stress in patients with phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Enzymes; Erythrocytes; Humans; Lipid Peroxidation; Oxidative Stress; Phenylalanine; Phenylketonurias; Thiobarbituric Acid Reactive Substances | 2005 |
Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Central Nervous System; Diabetes Mellitus; Female; Frontal Lobe; Humans; Intelligence; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Social Class; Time Factors | 2005 |
Phenylketonuria detected by the neonatal screening program in Thailand.
Topics: Biopterins; Blood Specimen Collection; Female; Fluorometry; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Program Evaluation; Public Health Administration; Thailand | 2003 |
A survey for the incidence of phenylketonuria in Guangdong, China.
Topics: Blood Specimen Collection; China; Fluorometry; Health Surveys; Humans; Incidence; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias | 2003 |
A study of gene expression profiles of cultured embryonic rat neurons induced by phenylalanine.
Topics: Animals; Cells, Cultured; Cerebral Cortex; Gene Expression Profiling; Gene Expression Regulation; Glutamic Acid; Neurons; Neurotoxins; Oligonucleotide Array Sequence Analysis; Phenylalanine; Phenylketonurias; Rats; RNA, Messenger; Signal Transduction; Up-Regulation | 2005 |
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
Topics: Animals; Biopterins; Calorimetry; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2005 |
Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin.
Topics: Animals; Base Sequence; Disease Models, Animal; DNA, Complementary; Gene Expression; Genetic Engineering; Genetic Therapy; GTP Cyclohydrolase; Humans; Keratin-14; Keratins; Mice; Mice, Inbred BALB C; Mice, Inbred DBA; Mice, Transgenic; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Promoter Regions, Genetic; Protein Precursors; Skin | 2005 |
Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregivers.
Topics: Adolescent; Caregivers; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Food, Formulated; Humans; Infant; Interview, Psychological; Male; Patient Acceptance of Health Care; Phenylalanine; Phenylketonurias; Socioeconomic Factors; Treatment Refusal | 2005 |
Phenylalanine ammonia-lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria.
Topics: Animals; Enzyme Activation; Female; Mice; Mice, Inbred BALB C; Petroselinum; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Polyethylene Glycols; Recombinant Proteins; Structure-Activity Relationship; Time Factors | 2005 |
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Cerebral Palsy; Child; Developmental Disabilities; Diagnostic Errors; Dopamine Agents; Female; Humans; Levodopa; Movement Disorders; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures | 2005 |
Characterization of tremor in phenylketonuric patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Time Factors; Tremor | 2005 |
Development of microwave-assisted derivatization followed by gas chromatography/mass spectrometry for fast determination of amino acids in neonatal blood samples.
Topics: Amino Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Microwaves; Phenylalanine; Phenylketonurias; Sensitivity and Specificity; Time Factors; Tyrosine | 2005 |
Visibility of vascular phenylalanine in dynamic uptake studies in humans using magnetic resonance spectroscopy.
Topics: Blood Flow Velocity; Brain Chemistry; Cerebrovascular Circulation; Chromatography, Ion Exchange; Humans; Magnetic Resonance Spectroscopy; Phenylalanine; Phenylketonurias | 2005 |
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.
Topics: Biopterins; Body Size; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Treatment Outcome | 2005 |
Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Diffusion Magnetic Resonance Imaging; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 2005 |
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria.
Topics: Animals; Disease Models, Animal; Hepatocytes; Liver; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
Topics: Amino Acids; Biopterins; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index | 2005 |
[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
Topics: Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity | 2005 |
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; New South Wales; Phenylalanine; Phenylketonurias | 2005 |
MR imaging-based volumetry in patients with early-treated phenylketonuria.
Topics: Adult; Brain; Case-Control Studies; Female; Humans; Magnetic Resonance Imaging; Male; Organ Size; Phenylalanine; Phenylketonurias; Time Factors | 2005 |
Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.
Topics: Animals; Dependovirus; Disease Models, Animal; Gene Expression Regulation; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Mice; Mice, Mutant Strains; Oligonucleotide Array Sequence Analysis; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Transgenes; Up-Regulation | 2005 |
Behavioural factors related to metabolic control in patients with phenylketonuria.
Topics: Attitude to Health; Behavior; Child; Child, Preschool; Female; Food, Formulated; Humans; Infant, Newborn; Male; Multivariate Analysis; Neonatal Screening; Parents; Patient Compliance; Phenylalanine; Phenylketonurias; Regression Analysis; Surveys and Questionnaires; Treatment Outcome | 2005 |
Living with phenylketonuria: perspectives of patients and their families.
Topics: Adolescent; Caregivers; Child; Child, Preschool; Family Health; Female; Humans; Infant; Male; Monitoring, Ambulatory; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; Utah | 2005 |
Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria.
Topics: Adolescent; Adult; Attitude to Computers; Child; Computers, Handheld; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prefrontal Cortex | 2005 |
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Topics: Administration, Oral; Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.
Topics: Adult; Base Sequence; Biological Transport, Active; Blood-Brain Barrier; Brain; Brain Chemistry; Exons; Fusion Regulatory Protein 1, Heavy Chain; Genotype; Humans; Intelligence; Large Neutral Amino Acid-Transporter 1; Molecular Sequence Data; Mutation; Phenotype; Phenylalanine; Phenylketonurias | 2005 |
Plasma biopterin levels and tetrahydrobiopterin responsiveness.
Topics: Biopterins; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Executive functioning and speed of processing in phenylketonuria.
Topics: Adolescent; Adult; Analysis of Variance; Attention; Demography; Female; Humans; Inhibition, Psychological; Judgment; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Problem Solving; Reaction Time | 2005 |
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Topics: Biopterins; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Genotype; Humans; Infant; Italy; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.
Topics: Animals; Bacteriophages; DNA, Complementary; Escherichia coli; Genetic Therapy; Genome; Integrases; Liver; Mice; Mice, Nude; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombination, Genetic | 2005 |
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Dose-Response Relationship, Drug; Female; Humans; Infant, Newborn; Longitudinal Studies; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Weight Gain | 2005 |
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
Topics: Biopterins; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity | 2005 |
Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver: its prevention by melatonin, Vitamin E, and Vitamin C.
Topics: Aldehydes; Animals; Animals, Newborn; Ascorbic Acid; Disease Models, Animal; Drug Interactions; Female; Male; Malondialdehyde; Melatonin; Mitochondrial Diseases; Phenethylamines; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects; Rats; Rats, Wistar; Time Factors; Vitamin A | 2006 |
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Topics: Animals; Antibodies, Monoclonal; Dependovirus; DNA, Recombinant; Female; Genetic Therapy; Genetic Vectors; Hair Color; Injections, Intravenous; Liver; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Models, Animal; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portal Vein; Sex Factors; Tail; Transduction, Genetic | 2006 |
Tetrahydrobiopterin and maternal PKU.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2005 |
Cerebral glucose metabolism in adults with early treated classic phenylketonuria.
Topics: Adult; Aging; Case-Control Studies; Cerebral Cortex; Female; Fluorodeoxyglucose F18; Glucose; Humans; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Positron-Emission Tomography; Time Factors | 2006 |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors | 2006 |
Quantitative bacterial micro-assay for rapid detection of serum phenylalanine on dry blood-spots: application in phenylketonuria screening.
Topics: Chemistry, Clinical; Chromatography, High Pressure Liquid; Desiccation; False Positive Reactions; Humans; Mass Screening; Microarray Analysis; Phenylalanine; Phenylketonurias; Proteus; Reference Standards; Time Factors | 2006 |
A quantitative bacterial micro-assay for rapid detection of serum phenylalanine in dry blood-spots: application in phenylketonuria screening.
Topics: Amino Acid Oxidoreductases; Blood Chemical Analysis; Chromatography, High Pressure Liquid; False Positive Reactions; Glutamates; Humans; Mass Screening; Phenylalanine; Phenylketonurias; Sensitivity and Specificity | 2006 |
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.
Topics: Body Height; Cephalometry; Child, Preschool; Dietary Proteins; Energy Intake; Growth; Head; Humans; Infant; Infant, Newborn; Models, Statistical; Netherlands; Nutritional Requirements; Phenylalanine; Phenylketonurias; Proteins; Regression Analysis; Retrospective Studies; Time Factors | 2005 |
Predicting the phenylalanine blood concentration from urine analyses. An approach to noninvasive monitoring of patients with phenylketonuria.
Topics: Adult; Analysis of Variance; Blood Chemical Analysis; Clinical Laboratory Techniques; Creatinine; Diet; Electroencephalography; Female; Humans; Male; Middle Aged; Models, Statistical; Mutation; Phenylalanine; Phenylketonurias; Regression Analysis; Sensitivity and Specificity; Time Factors | 2005 |
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.
Topics: Adolescent; Adult; Biopterins; Blood Platelets; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diet; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin; Tryptophan; Tryptophan Hydroxylase | 2005 |
[Magnetic resonance imaging of the brain in phenylketonuria].
Topics: Adolescent; Adult; Biomarkers; Brain; Child; Child, Preschool; Humans; Intellectual Disability; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias | 2006 |
[Brain white matter lesions of children with phenylketonuria before and after treatment].
Topics: Brain; Child; Child, Preschool; Female; Humans; Infant; Intelligence; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias | 2006 |
Phenylalanine reduces synaptic density in mixed cortical cultures from mice.
Topics: Animals; Cells, Cultured; Cerebral Cortex; Electron Transport Chain Complex Proteins; Embryo, Mammalian; Humans; Mice; Mice, Inbred C57BL; Neurons; Phenylalanine; Phenylketonurias; Pyruvate Kinase; Synapses | 2006 |
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Topics: Amino Acids; Biopterins; Circadian Rhythm; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization | 2006 |
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Genetic Variation; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2006 |
The determination of phenylalanine content of foods suitable for phenylketonuria.
Topics: Databases, Factual; England; Food Analysis; Fruit; Humans; Phenylalanine; Phenylketonurias; Vegetables | 2006 |
[Study on tetrahydrobiopterin deficiency in Northern Chinese population].
Topics: 5-Hydroxytryptophan; Asian People; Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Humans; Infant; Levodopa; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 2006 |
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.
Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Humans; Infant Formula; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Retrospective Studies; Victoria | 2006 |
LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria.
Topics: Brain; Genetic Variation; Humans; Large Neutral Amino Acid-Transporter 1; Mutation; Phenylalanine; Phenylketonurias; Polymorphism, Genetic | 2006 |
Large neutral amino acids in the treatment of phenylketonuria (PKU).
Topics: Adolescent; Adult; Amino Acids, Neutral; Animals; Brain; Diet; Double-Blind Method; Female; Humans; Lysine; Male; Mice; Phenylalanine; Phenylketonurias; Placebos | 2006 |
Dehydrogenase based reagentless biosensor for monitoring phenylketonuria.
Topics: Amino Acid Oxidoreductases; Biosensing Techniques; Electrochemistry; Enzymes, Immobilized; Equipment Design; Equipment Failure Analysis; Humans; Indicators and Reagents; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity; Urinalysis | 2007 |
Application of an enzyme chip to the microquantification of l-phenylalanine.
Topics: Amino Acid Oxidoreductases; Blood Stains; Histidine; Humans; Infant, Newborn; Microchemistry; Neonatal Screening; Phenylalanine; Phenylketonurias; Protein Array Analysis; Reproducibility of Results; Sensitivity and Specificity | 2006 |
Inhibitory control in children with phenylketonuria.
Topics: Adolescent; Attention; Child; Color Perception; Discrimination Learning; Female; Humans; Inhibition, Psychological; Intelligence; Male; Neuropsychological Tests; Pattern Recognition, Visual; Phenylalanine; Phenylketonurias; Problem Solving; Psychomotor Performance; Reaction Time; Saccades; Semantics | 2006 |
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice.
Topics: Amino Acid Oxidoreductases; Animals; Biogenic Monoamines; Corpus Striatum; Dependovirus; Disease Models, Animal; Female; Genetic Therapy; Genetic Vectors; Male; Mice; Mice, Neurologic Mutants; Nerve Degeneration; Neural Pathways; Neurodegenerative Diseases; Neuroglia; Neurons; Oxidative Stress; Phenylalanine; Phenylketonurias; Substantia Nigra; Treatment Outcome | 2007 |
Investigation of oxidative stress parameters in treated phenylketonuric patients.
Topics: Catalase; Child; Erythrocytes; Free Radicals; Glutathione Peroxidase; Humans; Lipid Peroxidation; Oxidative Stress; Phenylalanine; Phenylketonurias; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances | 2006 |
Serum paraoxonase/arylesterase activities in phenylketonuric patients on diet.
Topics: Analysis of Variance; Apolipoproteins; Aryldialkylphosphatase; Carboxylic Ester Hydrolases; Child; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Female; Humans; Lipid Peroxidation; Male; Phenylalanine; Phenylketonurias; Triglycerides | 2007 |
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.
Topics: Adolescent; Adult; Brain; Child; Diffusion Magnetic Resonance Imaging; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Phenylalanine; Phenylketonurias; Severity of Illness Index | 2007 |
Peak bone mass in patients with phenylketonuria.
Topics: Adult; Bone Density; Bone Diseases, Metabolic; Cohort Studies; Female; Hormones; Humans; Incidence; Male; Nutritional Status; Osmolar Concentration; Osteoporosis; Patient Compliance; Phenylalanine; Phenylketonurias | 2007 |
Effects of phenylalanine and its metabolites on cytoplasmic free calcium in cortical neurons.
Topics: Animals; Calcium; Cell Membrane; Cells, Cultured; Cerebral Cortex; Cytoplasm; Neurons; Phenylalanine; Phenylketonurias; Plasma Membrane Calcium-Transporting ATPases; Rats; Rats, Sprague-Dawley; RNA, Small Interfering | 2007 |
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy.
Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; DNA, Complementary; Female; Genetic Therapy; Hair; Liver; Male; Mice; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sex Factors; Time Factors | 2007 |
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Topics: Biopterins; DNA Mutational Analysis; Genotype; Humans; Infant, Newborn; Mutation; Neonatal Screening; Nitric Oxide Synthase; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Recombinant Fusion Proteins | 2007 |
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up.
Topics: Antineoplastic Agents; Child; Female; Humans; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Treatment Outcome | 2007 |
Epilepsy in phenylketonuria: a complex dependence on serum phenylalanine levels.
Topics: Acoustic Stimulation; Age Factors; Animals; Circadian Rhythm; Disease Models, Animal; Epilepsy; Epilepsy, Reflex; Female; Food, Formulated; Genetic Predisposition to Disease; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias | 2007 |
Protein metabolism in adult patients with phenylketonuria.
Topics: Adult; Biological Availability; Carbon Isotopes; Case-Control Studies; Dietary Proteins; Female; Humans; Infusions, Intravenous; Male; Nutrition Policy; Nutritional Requirements; Phenylalanine; Phenylketonurias; Postprandial Period; Protein Biosynthesis; Proteins | 2007 |
Management of phenylketonuria and hyperphenylalaninemia.
Topics: Child; Child, Preschool; Diet Therapy; Humans; Monitoring, Physiologic; Phenylalanine; Phenylketonurias | 2007 |
Response of phenylketonuria to tetrahydrobiopterin.
Topics: Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylketonurias | 2007 |
Differential effects of phenylalanine on Rac1, Cdc42, and RhoA expression and activity in cultured cortical neurons.
Topics: Amides; Animals; cdc42 GTP-Binding Protein; Cells, Cultured; Dendrites; Enzyme Inhibitors; Humans; Neurons; Phenylalanine; Phenylketonurias; Pyridines; rac1 GTP-Binding Protein; Rats; Rats, Sprague-Dawley; Recombinant Fusion Proteins; rhoA GTP-Binding Protein; Signal Transduction | 2007 |
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
Topics: Biopterins; Child; Humans; Infant, Newborn; Nitric Oxide; Phenylalanine; Phenylketonurias | 2007 |
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
Topics: Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Time Factors | 2007 |
Family conditions and dietary control in phenylketonuria.
Topics: Adaptation, Psychological; Adolescent; Attitude to Health; Child; Chronic Disease; Divorce; Family Characteristics; Female; Humans; Logistic Models; Male; Odds Ratio; Patient Compliance; Phenylalanine; Phenylketonurias; Psychology, Adolescent; Psychology, Child; Severity of Illness Index; Stress, Psychological; Surveys and Questionnaires; Sweden | 2007 |
First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17alpha-hydroxyprogesterone in blood spots.
Topics: 17-alpha-Hydroxyprogesterone; Blood Chemical Analysis; Blood Specimen Collection; Calibration; Equipment Design; Humans; Infant, Newborn; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Quality Control; Regression Analysis; Reproducibility of Results; Thyrotropin | 2007 |
Executive functioning in children and adolescents with phenylketonuria.
Topics: Adolescent; Adult; Child; Cognition; Concept Formation; Female; Humans; Intelligence; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Problem Solving; Verbal Behavior | 2007 |
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.
Topics: Adult; Biopterins; Diet, Protein-Restricted; Humans; Infant, Newborn; Mutation; Patient Selection; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Predictive Value of Tests; Severity of Illness Index; Treatment Outcome | 2007 |
Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan.
Topics: Adult; Follow-Up Studies; Health Policy; Humans; Infant, Newborn; Japan; Mandatory Testing; Neonatal Screening; Phenylalanine; Phenylketonurias; Public Health; Treatment Outcome | 2007 |
Tetrahydrobiopterin for patients with phenylketonuria.
Topics: Biopterins; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic | 2007 |
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs].
Topics: China; Female; Follow-Up Studies; Humans; Incidence; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Time Factors | 2007 |
Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test.
Topics: Adult; Biopterins; Breath Tests; Carbon Isotopes; Drug Combinations; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2007 |
Family conditions and dietary control in IEMs.
Topics: Adaptation, Psychological; Attitude of Health Personnel; Attitude to Health; Chronic Disease; Divorce; Family Characteristics; Humans; Patient Compliance; Phenylalanine; Phenylketonurias; Psychology, Adolescent; Psychology, Child; Severity of Illness Index; Stress, Psychological | 2007 |
Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria.
Topics: Biological Transport; Case-Control Studies; Chromatography, High Pressure Liquid; Equipment Design; Humans; Iontophoresis; Mass Spectrometry; Phenylalanine; Phenylketonurias; Reproducibility of Results; Skin | 2007 |
Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods.
Topics: Adolescent; Adult; Child; Diet; Female; Humans; Middle Aged; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias | 2007 |
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
Topics: Biopterins; Health Planning Guidelines; Humans; Phenylalanine; Phenylketonurias; Treatment Outcome | 2007 |
Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging.
Topics: Adult; Brain; Diffusion Magnetic Resonance Imaging; Female; Humans; Magnetic Resonance Spectroscopy; Male; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity | 2007 |
Is sapropterin treatment suitable for all subjects with phenylketonuria?
Topics: Adolescent; Adult; Biopterins; Clinical Trials, Phase III as Topic; Female; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome | 2008 |
First drug approved for treatment of phenylketonuria.
Topics: Biopterins; Drug Approval; Humans; Phenylalanine; Phenylketonurias; United States; United States Food and Drug Administration | 2008 |
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria.
Topics: Animals; Body Weight; Brain; Diet; Dietary Supplements; Disease Models, Animal; Feeding Behavior; Female; Glycopeptides; Male; Mice; Phenylalanine; Phenylketonurias | 2008 |
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.
Topics: Biopterins; Diagnostic Techniques and Procedures; Half-Life; Humans; Infant, Newborn; Models, Theoretical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors | 2008 |
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Cell Compartmentation; Follow-Up Studies; Humans; Models, Biological; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Urea | 2008 |
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sequence Deletion | 2008 |
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study.
Topics: Adult; Aging; Body Mass Index; Cross-Sectional Studies; Female; Finger Phalanges; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Pilot Projects; Ultrasonography | 2008 |
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
Topics: Biopterins; Genotype; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2008 |
Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.
Topics: Biopterins; Drug Administration Schedule; Half-Life; Humans; Phenylalanine; Phenylketonurias; Time Factors | 2008 |
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Topics: Animals; Dependovirus; Gene Transfer Techniques; Genetic Vectors; GTP Cyclohydrolase; Hydroxylation; Injections, Intramuscular; Liver; Mice; Mice, Transgenic; Muscle, Skeletal; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases | 2008 |
Application of the FLIPSY pulse sequence for increased sensitivity in 1H NMR-based metabolic profiling studies.
Topics: Data Interpretation, Statistical; Humans; Models, Theoretical; Nuclear Magnetic Resonance, Biomolecular; Phenylalanine; Phenylketonurias; Protons; Urine | 2008 |
The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders.
Topics: Adolescent; Body Mass Index; Brain; Child; Female; Humans; Male; Mental Disorders; Obesity; Phenylalanine; Phenylketonurias; Prevalence; Self Concept; Severity of Illness Index; Social Adjustment; Surveys and Questionnaires | 2008 |
Recently-approved sapropterin reduces phenylalanine levels.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2008 |
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.
Topics: Adolescent; Biomarkers; Child; Child, Preschool; Diagnosis, Differential; Female; Genotype; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Mass Screening; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Predictive Value of Tests; Proteins; Retrospective Studies | 2008 |
Metabolism of radioactive phenylalanine in rats with different dietary intakes of phenylalanine.
Topics: Animals; Carbon Dioxide; Carbon Isotopes; Diet; Humans; Male; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1966 |
A comparison of behavioral tests for measuring the effects of phenylketonuria in rats.
Topics: Animals; Avoidance Learning; Behavior, Animal; Humans; Male; Phenylalanine; Phenylketonurias; Rats | 1966 |
Effect of l-phenylalanine on central nervous system elements in tissue culture.
Topics: Animals; Animals, Newborn; Biological Assay; Cell Differentiation; Cerebral Cortex; Culture Techniques; Dogs; Glucosephosphate Dehydrogenase; Histocytochemistry; Humans; L-Lactate Dehydrogenase; Nerve Tissue; Phenylalanine; Phenylketonurias | 1966 |
Tryptophan metabolism in normal and phenylketonuric rats.
Topics: Animals; Carbon Dioxide; Carbon Isotopes; Humans; Indoleacetic Acids; Injections, Intravenous; Kynurenine; Male; Phenylalanine; Phenylketonurias; Rats; Tryptophan; Urea | 1966 |
[Neuropsychiatric study on the effects of low-phenylalanine diet in phenylketonuria. 1. Electroencephalography, convulsions, developmental index and associated personality changes with low-phenylalanine diet therapy for phenylketonuria].
Topics: Child; Child, Preschool; Diet Therapy; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Intelligence; Male; Personality; Phenylalanine; Phenylketonurias; Seizures | 1966 |
[Neuropsychiatric study on the effects of low-phenylalanine diet in phenylketonuria. 2. Experiments on the metabolism associated with the central nervous system disorder of phenylketonuria].
Topics: Child; Child, Preschool; Cyproheptadine; Diet Therapy; Female; Glutamine; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Tryptophan | 1966 |
Hyperphenylalanemia without phenylketonuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Diagnosis, Differential; Diet Therapy; Female; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Treatment of phenylketonuria.
Topics: Bone Development; Child, Preschool; Diet Therapy; Electroencephalography; Female; Growth; Humans; Infant; Intelligence Tests; Male; Neurologic Examination; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Clinical observations on phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
The early treatment of phenylketonuria.
Topics: Body Height; Body Weight; Child, Preschool; Diet Therapy; Female; Growth; Humans; Hunger; Infant; Infant, Newborn; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Amino acid abnormalities in a mentally retarded population.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Female; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
Phenylketonuria. 3. Measurement of multiple parameters of liver function.
Topics: Bilirubin; Cholesterol; Clinical Enzyme Tests; Humans; Isocitrate Dehydrogenase; Liver Function Tests; Methionine; Phenylalanine; Phenylketonurias; Thymol; Transaminases; Tyrosine; Vitamin B 12 | 1967 |
Termination of dietary treatment of phenylketonuria.
Topics: Child; Child, Preschool; Diet Therapy; Electroencephalography; Female; Humans; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Psychological Tests | 1967 |
Children of phenylketonuric mothers.
Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1967 |
Dietetic treatment of phenylketonuria: a follow-up study.
Topics: Body Height; Body Weight; Child; Child, Preschool; Diet Therapy; Epilepsy; Female; Humans; Infant; Infant, Newborn; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1967 |
Congenital malformations in offspring of phenylketonuric mothers.
Topics: Abortion, Habitual; Adult; Birth Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Heart Defects, Congenital; Hip Dislocation, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic; Strabismus | 1967 |
A manual fluorometric paper disc method for detecting phenylketonuria.
Topics: Blood Specimen Collection; Chemistry Techniques, Analytical; Fluorometry; Humans; Indicators and Reagents; Paper; Phenylalanine; Phenylketonurias; Specimen Handling | 1967 |
The effect of excess L-phenylalamine on mothers and on their breast-fed infants.
Topics: Breast Feeding; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Male; Milk, Human; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Genetics of phenylketonuria. Heterozygosity for phenylketonuria.
Topics: Cytogenetics; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1967 |
Genetics of phenylketonuria. Third allele at the phenylalanine hydroxylase locus in man.
Topics: Cytogenetics; Humans; Kinetics; Oxidoreductases; Phenylalanine; Phenylketonurias | 1967 |
Phenylketonuria in rats: a model for biochemical studies.
Topics: Amino Acids; Animals; Carbon Isotopes; Humans; Male; Models, Theoretical; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1967 |
Hyperphenylalaninemia without phenylketonuria.
Topics: Diet Therapy; Female; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
A study of the fluorometric method for phenylalanine in serum samples.
Topics: Adult; Alanine; Amino Acids; Buffers; Child; Child, Preschool; Dipeptides; Female; Filtration; Fluorescence; Fluorometry; Hot Temperature; Humans; Hydrogen-Ion Concentration; Indicators and Reagents; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Trichloroacetic Acid | 1967 |
Phenylketonuria in two American Negroes.
Topics: Black or African American; Child, Preschool; Diet Therapy; Eczema; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Psychology, Child; United States | 1967 |
One-dimensional paper chromatography of serum amino acids, with particular reference to phenylalanine.
Topics: Amino Acids; Chromatography, Paper; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1967 |
The dietary treatment of phenylketonuria: not proven.
Topics: Diet Therapy; Humans; Phenylalanine; Phenylketonurias | 1967 |
Phenylketonuria.
Topics: Diet Therapy; Dietary Proteins; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence; Intelligence Tests; Male; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1967 |
Determination of heterozygosity for phenylketonuria on the amino acid analyzer.
Topics: Autoanalysis; Buffers; Child; Heterozygote; Humans; Methods; Middle Aged; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
[A screening test to detect phenylketonuria and a semiquantitative determination of blood plasma phenylalanine by thin layer chromatography].
Topics: Amino Acids; Chromatography, Thin Layer; Humans; Phenylalanine; Phenylketonurias | 1967 |
p-Chlorophenylalanine-induced chemical manifestations of phenylketonuria in rats.
Topics: Animals; Brain Chemistry; Humans; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1967 |
The effect of phenylalanine administration on the activities of phenylalanine hydroxylase, some aminotransferases and decarboxylases in adult rats.
Topics: Animals; Brain; Carboxy-Lyases; Chromatography, Paper; Dopa Decarboxylase; Female; Humans; Injections, Intraperitoneal; Kidney; Liver; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats; Transaminases; Tryptophan; Tyrosine | 1967 |
Dietary induction of hyperphenylalaninemia in the rat.
Topics: Animals; Body Weight; Diet; Female; Growth; Humans; Liver; Mortality; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy, Animal; Rats; Tryptophan; Tyrosine | 1967 |
Feeding chicks high levels of L-phenylalanine and L-methionine supplemented diets in the study of experimental aspects of phenylketonuria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Diet; Growth; Homocystinuria; Humans; Methionine; Norepinephrine; Phenylalanine; Phenylketonurias; Poultry; Serotonin | 1967 |
Influence of niacin and L-tryptophan on the growth depressive performance of chicks fed high levels of L-phenylalanine and L-methionine.
Topics: Animals; Body Weight; Diet; Growth; Homocystinuria; Humans; Methionine; Nicotinic Acids; Phenylalanine; Phenylketonurias; Poultry; Tryptophan | 1967 |
Phenylketonuria and vitamin B6 function.
Topics: Acrodynia; Alopecia; Animals; Behavior, Animal; Body Weight; Diet; Growth; Humans; Learning; Male; Phenylalanine; Phenylketonurias; Pyridoxine; Rats; Swimming; Vitamin B 6 Deficiency | 1967 |
Microfluorometric screening technic for phenylketonurias using filter paper sample collection.
Topics: Fluorometry; Humans; Phenylalanine; Phenylketonurias | 1967 |
Experimentally induced phenylketonuria. I. Inhibitors of phenylalanine hydroxylase.
Topics: Animals; Chemical Phenomena; Chemistry; Enzymes; Fluorine; Humans; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats | 1967 |
Some biochemical consequences of feeding excesses of phenylalanine to rats.
Topics: Animals; Brain Chemistry; Humans; Learning; Liver; Mixed Function Oxygenases; Organ Size; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Proteins; Rats; Tyrosine | 1967 |
[Study of a heterozygous carrier of phenylketonuria].
Topics: Adult; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1967 |
Studies on the transport mechanism of aminoacids in the renal tubules. I. Studies on the mechanism of aminoaciduria from the analytical standpoint of titration curve.
Topics: Adult; Amino Acids; Biological Transport; Chromatography, Paper; Chronic Disease; Female; Histidine; Humans; Infusions, Parenteral; Kidney Tubules; Male; Nephritis; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Spectrophotometry | 1967 |
Low-phenylalanine diets for pregnant PKU heterozygotes are unnecessary.
Topics: Diet; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Care | 1967 |
Tryptophan oxidation in phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Indoleacetic Acids; Ketones; Male; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tryptophan | 1967 |
Enzymatic control of phenylalanine intake in phenylketonuria.
Topics: Adult; Ammonia-Lyases; Dietary Proteins; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias | 1980 |
The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.
Topics: Amino Acids, Essential; Child; Child, Preschool; Dietary Proteins; Female; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; Tyrosine Transaminase; Valine | 1980 |
False positive phenylketonuria tests.
Topics: False Positive Reactions; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1980 |
Phenylacetate and brain dysfunction in experimental phenylketonuria: synaptic development.
Topics: Animals; Cerebral Cortex; Choline; Female; Fenclonine; gamma-Aminobutyric Acid; Humans; Male; Neurotransmitter Agents; Norepinephrine; Organ Size; Phenethylamines; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Serotonin; Sialic Acids; Synaptosomes | 1980 |
Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia.
Topics: Brain; Child; Child, Preschool; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pregnancy | 1981 |
[Growth and nutrition: long term follow-up in early treated phenylketonuric and hyperphenylalaninemic children (author's transl)].
Topics: Body Weight; Child; Child, Preschool; Dietary Proteins; Female; Growth; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Sex Factors; Time Factors | 1981 |
Serotonin and dopamine synthesis in phenylketonuria.
Topics: Dopamine; Humans; Kinetics; Phenylalanine; Phenylketonurias; Serotonin; Tryptamines; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 1981 |
Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin.
Topics: Biopterins; Blood Glucose; Child; Dose-Response Relationship, Drug; Growth Hormone; Humans; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Prolactin; Pteridines; Pterins | 1983 |
Rapid screening of metabolic disease by proton NMR urinalysis.
Topics: Humans; Magnetic Resonance Spectroscopy; Phenylalanine; Phenylketonurias | 1984 |
The effects of phenylalanine on cultured rat embryos.
Topics: Animals; Biological Transport; Dose-Response Relationship, Drug; Ectogenesis; Embryo, Mammalian; Humans; Phenylalanine; Phenylketonurias; Rats | 1984 |
EEG as a possible prognostic tool in phenylketonuria.
Topics: Brain; Electroencephalography; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias; Prognosis | 1983 |
Determination of phenylalanine in filter paper blood spots by a simplified automated fluorimetric method without dialysis.
Topics: Autoanalysis; Blood Specimen Collection; Humans; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence; Staining and Labeling | 1983 |
[Detection of phenylketonuria. 10,000,000 tests].
Topics: Clinical Laboratory Techniques; France; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1983 |
Analysis of learning in retarded monkeys.
Topics: Animals; Attention; Concept Formation; Discrimination, Psychological; Disease Models, Animal; Female; Fenclonine; Humans; Learning; Macaca mulatta; Phenylalanine; Phenylketonurias; Pregnancy; Reinforcement, Psychology; Retention, Psychology | 1984 |
Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats.
Topics: Amino Acids; Animals; Animals, Newborn; Brain; Fenclonine; Glycine; Humans; Liver; Phenylalanine; Phenylketonurias; Phosphoric Monoester Hydrolases; Rats; Spinal Cord | 1981 |
Effect of hyperphenylalaninemia on polyphosphoinositides content of rat brain.
Topics: Animals; Brain; Disease Models, Animal; Fenclonine; Humans; Kinetics; Phenylalanine; Phenylketonurias; Phosphatidylinositols; Phospholipids; Rats; Rats, Inbred Strains | 1982 |
Lipid composition of brain myelin from normal and hyperphenylalaninemic chick embryos.
Topics: 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase; 2',3'-Cyclic-Nucleotide Phosphodiesterases; Animals; Chick Embryo; Cholesterol; Fatty Acids; Humans; Lipid Metabolism; Myelin Sheath; Phenylalanine; Phenylketonurias; Phospholipids; Phosphoric Diester Hydrolases | 1984 |
Nutrition classics, the Journal of Clinical Investigation, volume 34, 1955: Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. By Marvin D. Armstrong and Frank H. Tyler.
Topics: Child, Preschool; Female; History, 20th Century; Humans; Infant; Male; Phenylalanine; Phenylketonurias; United States | 1983 |
[Phenylketonuria. Yesterday, today and tomorrow].
Topics: Child; Child, Preschool; History, 20th Century; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1983 |
[Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].
Topics: Alcohol Oxidoreductases; Biopterins; Child; Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
Topics: Alcohol Oxidoreductases; Biopsy, Needle; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Liver; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
[Partial deficiency of tetrahydrobiopterin].
Topics: Adolescent; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
Diagnosis of variant forms of hyperphenylalaninemia using filter paper spots of urine.
Topics: Adult; Alcohol Oxidoreductases; Chromatography, High Pressure Liquid; Diagnosis, Differential; Filtration; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1983 |
Inhibition by L-phenylalanine of tryptophan transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria.
Topics: Animals; Biological Transport; Biological Transport, Active; Brain; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Synaptic Membranes; Synaptosomes; Tryptophan | 1983 |
Diagnostic and therapeutic aspects of dihydrobiopterin deficiency.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Chromatography, High Pressure Liquid; Dihydroxyphenylalanine; Humans; Infant; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines | 1983 |
Differential diagnosis of variant forms of hyperphenylalaninaemia by urinary pterins.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diagnosis, Differential; Dihydropteridine Reductase; Humans; Infant; Neopterin; Phenylalanine; Phenylketonurias; Pterins | 1983 |
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Topics: Biopterins; Female; Fibroblasts; Humans; Infant; Lymphocytes; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine | 1984 |
Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age.
Topics: Child; Humans; Intelligence Tests; Mathematics; Phenylalanine; Phenylketonurias; Reading | 1984 |
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
Topics: Biopterins; Dihydropteridine Reductase; Erythrocytes; Female; Follow-Up Studies; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine | 1984 |
[Method of eliminating inhibition by antibiotics in the Guthrie test for phenylketonuria].
Topics: Anti-Bacterial Agents; Bacillus subtilis; Humans; Hydrochloric Acid; Infant; Methods; Phenylalanine; Phenylketonurias; Sodium Hydroxide | 1983 |
Characterization of experimental phenylketonuria. Augmentation of hyperphenylalaninemia with alpha-methylphenylalanine and p-chlorophenylalanine.
Topics: Age Factors; Amino Acids; Animals; Behavior, Animal; Body Weight; Brain Chemistry; Disease Models, Animal; Fenclonine; Humans; Learning; Myelin Proteins; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1980 |
Dietary and metabolic effects on rhesus social behavior: phenylalanine-related dietary alterations.
Topics: Aggression; Animals; Female; Fenclonine; Haplorhini; Humans; Macaca mulatta; Phenylalanine; Phenylketonurias; Play and Playthings; Pregnancy; Social Behavior | 1980 |
Phenylketonuria: clinical and experimental considerations revealed by the use of animal models.
Topics: Animals; Brain; Cerebellum; Disease Models, Animal; Fenclonine; Humans; Male; Neurons; Phenylalanine; Phenylketonurias; Rats | 1980 |
Phenylacetate and the enduring behavioral deficit in experimental phenylketonuria.
Topics: Animals; Behavior, Animal; Body Weight; Escape Reaction; Female; Fenclonine; Humans; Hyperkinesis; Male; Phenethylamines; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Sex Factors | 1980 |
Induction of an experimental phenylketonuria-like condition in infant rats during the first 2 weeks after birth.
Topics: Animals; Animals, Newborn; Diet; Disease Models, Animal; Female; Fenclonine; Humans; Male; Methotrexate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 1981 |
Disturbances of amino acid transport in rats with experimental hyperphenylalaninaemia.
Topics: Amino Acids; Animals; Cerebral Cortex; Disease Models, Animal; Fenclonine; Glycine; Humans; Leucine; Liver; Phenylalanine; Phenylketonurias; Rats; Tryptophan | 1981 |
Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.
Topics: Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intelligence; Japan; Male; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1984 |
Phenylketonuria and its variants: observations on intellectual functioning.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Time Factors | 1984 |
Screening for phenylketonuria in chronic psychiatric inpatients.
Topics: Hospitals, Psychiatric; Humans; Intellectual Disability; Mental Disorders; Phenylalanine; Phenylketonurias | 1984 |
[Sensitivity of phenylketonuria screening].
Topics: Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1984 |
More on untreated maternal hyperphenylalaninemia.
Topics: Child; Female; Humans; Intelligence; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1984 |
Determination of aromatic amino acids by ion-pair reversed-phase liquid chromatography in human sera from healthy and phenylketonuric individuals.
Topics: Amino Acids; Chromatography, Liquid; Histidine; Humans; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1984 |
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia.
Topics: Adult; Female; Humans; Intelligence; Intelligence Tests; Personality; Personality Tests; Phenylalanine; Phenylketonurias | 1984 |
[Malignant forms of phenylketonuria].
Topics: Child; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Tyrosine | 1984 |
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
Topics: Female; Genetic Carrier Screening; Heterozygote; Homozygote; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine | 1984 |
[In vitro synthesis of tyrosine from phenylalanine in human platelets].
Topics: Adult; Blood Platelets; Depressive Disorder; Female; Humans; In Vitro Techniques; Male; Phenylalanine; Phenylketonurias; Schizophrenia; Tyrosine | 1984 |
[Advances in the diagnosis and treatment of phenylketonuria].
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1984 |
PKU, learning, and models of mental retardation.
Topics: Animals; Body Weight; Disease Models, Animal; Humans; Intellectual Disability; Learning; Phenylalanine; Phenylketonurias; Psychological Tests; Rats | 1984 |
Phenylalanine and phenylacetate adversely affect developing mammalian brain neurons.
Topics: Acetylcholine; Animals; Brain; gamma-Aminobutyric Acid; Glutamate Decarboxylase; Humans; Mice; Muridae; Neurons; Phenylacetates; Phenylalanine; Phenylketonurias | 1984 |
Developmental changes of cerebral phenylalanine uptake from severely elevated blood levels.
Topics: Age Factors; Animals; Brain; Brain Chemistry; Humans; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred F344 | 1984 |
Maternal phenylketonuria.
Topics: Adolescent; Adult; Child; Female; Genetic Counseling; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy | 1984 |
Aspartame--a review.
Topics: Animals; Aspartame; Brain Diseases; Brain Neoplasms; Child; Dental Caries; Dipeptides; Humans; Phenylalanine; Phenylketonurias; United States; United States Food and Drug Administration | 1984 |
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria.
Topics: Child, Preschool; Evoked Potentials; Humans; Intelligence; Phenylalanine; Phenylketonurias; Psychomotor Performance | 1983 |
PKU and temperament. Rating children three through seven years old in PKU families.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Male; Parent-Child Relations; Personality; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; Temperament | 1983 |
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
Topics: Abortion, Spontaneous; Birth Weight; Body Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Fetal Blood; Fetus; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1983 |
[Behavior problems in phenylketonuria. Attempt at a biochemical interpretation based on a personal case and a review of the literature].
Topics: Brain; Child; Humans; Male; Nerve Tissue Proteins; Neurocognitive Disorders; Phenylalanine; Phenylketonurias | 1983 |
Phenylketonuria with normal intelligence.
Topics: Adolescent; Adult; Child; Female; Humans; Intelligence; Male; Milk, Human; Phenylalanine; Phenylketonurias | 1983 |
Direct determination of phenylalanine in serum extracts of phenylketonuria patients by reversed-phase high-performance liquid chromatography.
Topics: Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Spectrophotometry, Ultraviolet | 1983 |
In vivo safety of hollow fiber enzyme-reactors with immobilized phenylalanine ammonia-lyase in a large animal model for phenylketonuria.
Topics: Ammonia-Lyases; Animals; Blood Cells; Blood Urea Nitrogen; Disease Models, Animal; Dogs; Enzymes, Immobilized; Female; Humans; Macaca; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Time Factors; Tyrosine | 1983 |
Brain development in experimental hyperphenylalaninaemia: disturbed proliferation and reduced cell numbers in the cerebellum.
Topics: Animals; Cell Count; Cerebellum; DNA; Humans; Nutrition Disorders; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1983 |
Effect of experimental hyperphenylalaninemia on myelin metabolism at later stages of brain development.
Topics: Amino Acids; Animals; Brain; Female; Humans; Myelin Proteins; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1983 |
Compound heterozygotes in hyperphenylalaninaemia.
Topics: Female; Heterozygote; Humans; Infant; Male; Phenotype; Phenylalanine; Phenylketonurias | 1984 |
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Pteridines; Specimen Handling | 1984 |
[Maternal phenylketonuria].
Topics: Child; Chromatography, Thin Layer; Female; Heterozygote; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1984 |
Current status of biopterin screening.
Topics: Biopterins; Chromatography, High Pressure Liquid; Humans; Infant; Infant, Newborn; Mass Screening; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1984 |
Diet policies of PKU clinics in the United States.
Topics: Ambulatory Care Facilities; Child; Child, Preschool; Diet; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; United States | 1984 |
Detection of heterozygous carriers for phenylketonuria by a L-[2H5]phenylalanine stable isotope loading test.
Topics: Deuterium; Female; Genetic Carrier Screening; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1984 |
Neonatal screening for phenylketonuria.
Topics: Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1984 |
[Phenylketonuria and hyperphenylalaninemia: clinico-genetic classification of 14 forms].
Topics: Amino Acid Metabolism, Inborn Errors; Genotype; Humans; Phenylalanine; Phenylketonurias; Syndrome | 1984 |
Is phenylalanine requirement in infants and children related to protein intake?
Topics: Body Weight; Child, Preschool; Dietary Proteins; Humans; Infant; Infant, Newborn; Nitrogen; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1984 |
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
Topics: Female; Fetus; Humans; Intelligence; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1984 |
On the brain barrier system function and changes of cerebrospinal fluid concentrations of phenylalanine and tyrosine in human phenylketonuria.
Topics: Blood-Brain Barrier; Humans; Phenylalanine; Phenylketonurias; Reference Values; Tyrosine | 1984 |
Growth development and its relationship to intellectual functioning of children with phenylketonuria.
Topics: Body Height; Body Weight; Cephalometry; Child; Child Development; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias | 1984 |
Phenylalanine lowers melanin synthesis in mammalian melanocytes by reducing tyrosine uptake: implications for pigment reduction in phenylketonuria.
Topics: Animals; Cricetinae; Humans; Melanins; Melanocytes; Melanoma; Monophenol Monooxygenase; Neoplasms, Experimental; Phenylalanine; Phenylketonurias; Skin Neoplasms; Skin Pigmentation; Tyrosine | 1980 |
Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register.
Topics: False Negative Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Registries; United Kingdom | 1981 |
Phenylketonuria: past, present, future. F. P. Hudson Memorial Lecture, Leeds, 1979.
Topics: Germany, West; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Research | 1980 |
Plasma and cerebrospinal fluid amino acid concentrations in phenylketonuria during the newborn period.
Topics: Amino Acids; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias; Threonine; Tyrosine | 1981 |
Bone changes in phenylketonuria reassessed.
Topics: Bone Diseases; Humans; Phenylalanine; Phenylketonurias; Radiography; Wrist | 1981 |
Determination of urinary amino acids by liquid chromatography with "dabsyl chloride".
Topics: Amino Acids; Chromatography, Liquid; Humans; Neoplasms; p-Dimethylaminoazobenzene; Phenylalanine; Phenylketonurias; Sulfones | 1980 |
In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.
Topics: Humans; Hydroxylation; Infant; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1981 |
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
Topics: Adult; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; Infant; NADH, NADPH Oxidoreductases; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Xanthopterin | 1981 |
Phenylalanine loading tests in genetic counselling: 5 years exprience with its premarital use.
Topics: Female; Genetic Counseling; Heterozygote; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Premarital Examinations | 1981 |
Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1981 |
Use of alpha-methylphenylalanine for studies of brain development in experimental phenylketonuria.
Topics: Animals; Brain; Cell Division; Cell Survival; Cerebellum; Disease Models, Animal; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats | 1981 |
Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals.
Topics: Aminobutyrates; Child; Child, Preschool; Female; Heterozygote; Homozygote; Humans; Infant; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1981 |
Late onset phenylalanine intoxication.
Topics: Adult; Behavior; Child; Child, Preschool; Humans; Infant; Intelligence Tests; Phenylalanine; Phenylketonurias | 1980 |
The current status of newborn screening.
Topics: Bacteriological Techniques; Blood Specimen Collection; Congenital Hypothyroidism; Humans; Hypothyroidism; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Phenylalanine; Phenylketonurias; Thyrotropin; Thyroxine; United States | 1982 |
Four cases of hyperphenylalaninaemia: studies during pregnancy and of the offspring produced.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diet; Electroencephalography; Female; Humans; Infant, Newborn; Middle Aged; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Proteins; Time Factors | 1982 |
Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Half-Life; Humans; Lysine; Myelin Proteins; Myelin Sheath; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1982 |
Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Dietary Proteins; Humans; Infant; Phenylalanine; Phenylketonurias | 1982 |
Incidence of disorders tested by systematic screening: confidence limits and comparison of programmes.
Topics: Epidemiologic Methods; Humans; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Statistics as Topic; Switzerland | 1982 |
Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Antibodies; Humans; Immunodiffusion; Immunoelectrophoresis; Isoelectric Focusing; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rabbits | 1982 |
Genetic screening of newborn in Australia. Results for 1981.
Topics: Australia; Congenital Hypothyroidism; Genetic Testing; Humans; Hypothyroidism; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1983 |
A simplified PKU gene carrier detection test using fasting blood.
Topics: Fasting; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1983 |
[Phenylketonuria screening: false-positive and false-negative results].
Topics: False Negative Reactions; False Positive Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1983 |
[Treatment control of children with phenylketonuria by fluorimetric phenylalanine determination].
Topics: Child; Fluorometry; Humans; Phenylalanine; Phenylketonurias | 1983 |
The dietary treatment of phenylketonuria.
Topics: Child, Preschool; Female; Food, Formulated; Humans; Phenylalanine; Phenylketonurias | 1983 |
Newborn phenylalanine/tyrosine metabolism. Implications for screening for phenylketonuria.
Topics: Aging; Fetal Blood; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1983 |
Early-treated phenylketonuria: neuropsychologic consequences.
Topics: Achievement; Child; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Psychological Tests | 1983 |
Plasma phenylalanine, tyrosine, and tryptophan in schizophrenia.
Topics: Administration, Oral; Adult; Heterozygote; Humans; Infusions, Parenteral; Phenylalanine; Phenylketonurias; Schizophrenia; Tryptophan; Tyrosine | 1983 |
Dietary management of phenylketonuria from birth using a phenylalanine-free product.
Topics: Child, Preschool; Humans; Infant; Infant Food; Infant, Newborn; Osmolar Concentration; Phenylalanine; Phenylketonurias | 1983 |
[Hyperphenylalaninemia in 1983].
Topics: Biopterins; Female; Fetal Diseases; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications | 1983 |
Plasma amino acid pattern at noon in early treated hyperphenylalaninemic, phenylketonuric, and normal children.
Topics: Adolescent; Aging; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Female; Glutamine; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Time Factors | 1983 |
[The phenylalanine hydroxylase system].
Topics: Adult; Biopterins; Child; Dihydropteridine Reductase; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1983 |
[An attempt at classification of the hyperphenylalaninemias. Apropos of 62 patients].
Topics: Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Retrospective Studies | 1983 |
[Phenylalanine-restricted diet. The portion-by-weight system].
Topics: Food Analysis; Humans; Phenylalanine; Phenylketonurias | 1983 |
[Dietetic therapy of phenylketonuria. New composition tables and exchange lists of fruits and vegetables expressed in volumetric measurements].
Topics: Fruit; Humans; Phenylalanine; Phenylketonurias; Vegetables | 1983 |
[Problems posed by maternal phenylketonuria].
Topics: Brain; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tryptophan; Tyrosine | 1983 |
Comparative diagnostic value of phenylalanine challenge and phenylalanine hydroxylase activity in phenylketonuria.
Topics: Child; Child, Preschool; Female; Humans; Infant; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1983 |
Screening for PKU in sick or premature neonates.
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Phenylalanine; Phenylketonurias | 1983 |
Tyrosine supplementation during pregnancy in a woman with classical phenylketonuria. A case report.
Topics: Female; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1983 |
Newborn screening for phenylketonuria: predictive validity as a function of age.
Topics: Age Factors; Diagnostic Tests, Routine; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Prognosis; Surveys and Questionnaires | 1983 |
Inhibition by L-phenylalanine of tyrosine transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria.
Topics: Animals; Biological Transport; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Synaptic Vesicles; Synaptosomes; Tyrosine | 1982 |
Synthesis of low-phenylalanine polypeptides.
Topics: Amino Acids; Carboxypeptidases; Carboxypeptidases A; Child; Chymotrypsin; Dietary Proteins; Glycine max; Humans; Peptides; Phenylalanine; Phenylketonurias; Plant Proteins | 1982 |
Brain development in experimental hyperphenylalaninaemia: myelination.
Topics: Animals; Brain; Disease Models, Animal; Humans; Microscopy, Electron; Myelin Sheath; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Spinal Cord | 1982 |
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".
Topics: Female; Fetal Blood; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1980 |
Hyperphenylalaninemia (PKU) and hypothyroid testing.
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; South Dakota | 1982 |
Impaired permeability of the blood-cerebrospinal fluid barrier in hyperphenylalaninaemia.
Topics: 5-Hydroxytryptophan; Animals; Biological Transport, Active; Blood-Brain Barrier; Brain Chemistry; Cattle; Choroid Plexus; Humans; In Vitro Techniques; Permeability; Phenylalanine; Phenylketonurias; Rats; Serotonin; Tryptophan | 1982 |
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Spectrometry, Fluorescence | 1981 |
American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism.
Topics: Biopterins; Congenital Hypothyroidism; Female; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Thyroid Hormones | 1982 |
Maternal phenylketonuria--results of dietary therapy.
Topics: Adult; Female; Fetal Diseases; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1982 |
Normal infant born to a mother with phenylketonuria.
Topics: Adult; Child, Preschool; Female; Fetal Diseases; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First | 1982 |
Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.
Topics: Amino Acids; Child, Preschool; Dietary Proteins; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Milk, Human; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1982 |
Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).
Topics: Biopsy, Needle; Child; Child, Preschool; Female; Humans; Infant; Intelligence; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1982 |
Phenylalanine ammonia lyase in the management of phenylketonuria: the relationship between ingested cinnamate and urinary hippurate in humans.
Topics: Adolescent; Adult; Ammonia-Lyases; Cinnamates; Diet; Dietary Proteins; Hippurates; Humans; Middle Aged; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias | 1982 |
Liquid-chromatographic direct determination of phenylalanine and tyrosine in serum or plasma, with application to patients with phenylketonuria.
Topics: Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Reference Values; Spectrophotometry, Ultraviolet; Tyrosine | 1982 |
Nutrition in pregnancy of women with hyperphenylalaninemia.
Topics: Abortion, Spontaneous; Congenital Abnormalities; Female; Fetal Death; Fetal Growth Retardation; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1982 |
Treatment of phenylketonuria during pregnancy.
Topics: Adult; Diet; Female; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1982 |
Phenylalanine levels in PKU following minor surgery.
Topics: Child; Child, Preschool; Humans; Infant; Minor Surgical Procedures; Phenylalanine; Phenylketonurias; Postoperative Period; Proteins | 1982 |
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.
Topics: Biopterins; Child, Preschool; Female; Humans; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Serotonin | 1982 |
Laboratory confirmation of phenylketonuria. Combined paper chromatography and "inhibition assay".
Topics: Chromatography, Paper; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1982 |
Early blood sampling in neonatal programs for the detection of phenylketonuria.
Topics: Age Factors; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Prospective Studies | 1982 |
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Homozygote; Humans; Infant, Newborn; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1982 |
Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.
Topics: Biopterins; Brain; Child; Child, Preschool; Female; Humans; Male; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1982 |
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
Topics: Adolescent; Adult; Blood Stains; Child; Child, Preschool; Clinical Enzyme Tests; Dihydropteridine Reductase; Erythrocytes; Humans; Infant; Infant, Newborn; Liver; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1982 |
Newborn screening for phenylketonuria.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1982 |
[Phenylalanine hydroxylase].
Topics: Animals; Demyelinating Diseases; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1982 |
Plasma amino acid pattern in phenylketonuric heterozygotes during pregnancy.
Topics: Adult; Amino Acids; Female; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Tyrosine | 1982 |
Depletion of phenylalanine in the blood of phenylketonuric patients using a PAL-enzyme reactor. An in vitro study.
Topics: Adult; Ammonia-Lyases; Enzymes, Immobilized; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Time Factors | 1982 |
Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method.
Topics: Age Factors; Autoanalysis; False Positive Reactions; Humans; Infant, Newborn; North Carolina; Phenylalanine; Phenylketonurias; Seasons; Statistics as Topic | 1982 |
Genetic screening of newborn in Australia: results for 1980.
Topics: Australia; Congenital Hypothyroidism; Cystic Fibrosis; Female; Genetic Testing; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1982 |
Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine.
Topics: Administration, Oral; Adult; Amino Acids, Branched-Chain; Child; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1982 |
[Pathogenesis of cerebral dysfunction in phenylketonuria].
Topics: Brain; Catecholamines; Humans; Ketone Bodies; Myelin Proteins; Phenylalanine; Phenylketonurias; Serotonin; Tyrosine | 1982 |
Projections of a rebound in frequency of mental retardation from phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Gene Frequency; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Prognosis | 1982 |
Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes.
Topics: Female; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1982 |
[Correlation between biochemical-biological parameters and intellectual development in treated phenylketonuria children].
Topics: Adolescent; Body Height; Body Weight; Child; Child Development; Child, Preschool; Female; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias | 1982 |
Screening for medical intervention: the PKU experience.
Topics: Biopterins; Female; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1982 |
[Maternal phenylketonuria syndrome: teratogenic effect of hyperphenylalaninemia].
Topics: Adult; Female; Fetal Growth Retardation; Genetic Counseling; Humans; Infant; Intellectual Disability; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Syndrome | 1982 |
[Congenital errors of metabolism: phenylketonuria and hyperphenylalanemias].
Topics: Diagnosis, Differential; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Pregnancy | 1982 |
Inhibition of growth of cells in culture by L-phenylalanine as a model system for the analysis of phenylketonuria. I. aminoacid antagonism and the inhibition of protein synthesis.
Topics: Amino Acids; Amino Acids, Essential; Animals; Humans; L Cells; Mice; Mitosis; Phenylalanine; Phenylketonurias; Protein Biosynthesis | 1980 |
"Physiological phenylketonuria": a biochemical defect caused by delayed maturation of the phenylalanine hydroxylation pathway and by competition with the phenylalanine biosynthetic pathway.
Topics: Alanine; Bacteria; Drug Resistance, Microbial; Feedback; Humans; Intestinal Mucosa; Models, Theoretical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1980 |
[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)].
Topics: Austria; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Psychometrics | 1980 |
[Psychometry and psychological observations in early treated children with phenylketonuria (PKU) during 12 years (author's transl)].
Topics: Age Factors; Child; Child, Preschool; Female; Humans; Infant; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Psychometrics | 1980 |
[Intracellular concentration of phenylalanine, tyrosine and alpha-amino butyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals (author's transl)].
Topics: Aminobutyrates; Female; Heterozygote; Homozygote; Humans; Infant, Newborn; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1980 |
[Phenylalanine level in the serum of heterozygotes for phenylketonuria under intensified protein catabolism].
Topics: Adult; Fever; Heterozygote; Humans; Influenza, Human; Phenylalanine; Phenylketonurias; Proteins | 1981 |
The effects of hyperphenylalaninemia on fetal development: a new animal model of maternal phenylketonuria.
Topics: Animals; Brain; Diet; Female; Fetus; Growth; Humans; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats; Rats, Inbred F344 | 1982 |
Genetic screening of newborn in Australia: results for 1979.
Topics: Australia; Female; Humans; Hyperthyroidism; Infant, Newborn; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1981 |
The diagnosis of phenylketonuria: a commentary.
Topics: Adolescent; Adult; Aged; Diet; Female; Humans; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1981 |
Brain uptake of 11C-methionine in phenylketonuria.
Topics: Adult; Age Factors; Blood-Brain Barrier; Brain; Carbon Radioisotopes; Child, Preschool; Humans; Infant; Methionine; Phenylalanine; Phenylketonurias | 1981 |
Screening for phenylketonuria.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1981 |
[Relationship between the severity of brain damage in phenylketonuria and the degree of hyperphenylalaninemia].
Topics: Child; Child, Preschool; Epilepsy; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Risk; Syndrome | 1980 |
[Treatment of phenylketonuria. Remarks on 21 cases].
Topics: Body Weight; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias | 1980 |
Unsuccessful treatment of phenylketonuria with tyrosine.
Topics: Adult; Child Development; Female; Food, Fortified; Humans; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Neurologic Manifestations; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1981 |
Plasma phenylalanine levels in phenylketonuric heterozygous and normal adults administered aspartame at 34 mg/kg body weight.
Topics: Adult; Aspartame; Aspartic Acid; Dipeptides; Female; Heterozygote; Humans; Male; Phenylalanine; Phenylketonurias; Sex Factors; Tyrosine | 1981 |
Phenylalanine tolerance test in parents of phenylketonurics.
Topics: Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias | 1980 |
Outcome of pregnancy in a phenylketonuric mother after low phenylalanine diet introduced from the ninth week of pregnancy.
Topics: Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Tyrosine | 1981 |
EEG pattern in phenylketonuria under early initiated dietary treatment.
Topics: Brain; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Psychological Tests | 1981 |
Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.
Topics: Adolescent; Adult; Aging; Amniotic Fluid; Animals; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Neopterin; Phenylalanine; Phenylketonurias; Pregnancy; Pteridines; Rats; Rats, Inbred Strains | 1981 |
[The interaction of biological and social factors on the effect of treatment in cases of phenylketonuria (author's transl)].
Topics: Adult; Child; Female; Humans; Intelligence; Male; Outcome and Process Assessment, Health Care; Phenylalanine; Phenylketonurias; Social Environment; Socioeconomic Factors | 1981 |
Hyperphenylalaninaemia of various types among three-quarters of a million neonates tested in a screening programme.
Topics: Amino Acids; Humans; Infant Food; Infant, Newborn; London; Mass Screening; Milk Proteins; Phenylalanine; Phenylketonurias; Tyrosine | 1981 |
An enzymatic assay of plasma phenylalanine and tyrosine for the detection and management of phenylketonuria.
Topics: Adolescent; Child; Female; Humans; Infant, Newborn; Male; Methods; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Spectrometry, Fluorescence; Tyrosine | 1981 |
[Early detection of phenylketonuria in the Netherlands, 1977-1979. 2d report of the National Care Commission on Phenylketonuria].
Topics: Child Development; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Netherlands; Phenylalanine; Phenylketonurias | 1981 |
Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.
Topics: Evaluation Studies as Topic; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sweden; Tyrosine | 1981 |
[Effectiveness of treatment of phenylketonuria in a mentally retarded 2-year-old boy].
Topics: Age Factors; Child, Preschool; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 1981 |
Semen studies on phenylketonurics.
Topics: Adult; Humans; Male; Phenylalanine; Phenylketonurias; Semen; Sperm Count | 1981 |
Maternal phenylketonuria: the outcome of pregnancy.
Topics: Abortion, Missed; Female; Humans; Infant, Low Birth Weight; Infant, Newborn; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1981 |
[Neonatal screening for phenylketonuria].
Topics: France; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1981 |
Psychic changes in phenylketonuric children at phenylalanine load.
Topics: Adolescent; Child; Female; Humans; Male; Phenylalanine; Phenylketonurias; Psychophysiology | 1981 |
Detection of phenylketonuria in autistic and psychotic children.
Topics: Amino Acids; Autistic Disorder; Child; Child, Preschool; Female; Genetic Testing; Humans; Male; Phenylalanine; Phenylketonurias; Psychotic Disorders | 1980 |
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).
Topics: Biopterins; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
[Excretion of transamination products in hyperphenylalaninemia (author's transl)].
Topics: Adult; Biogenic Amines; Female; Histidine; Humans; Intellectual Disability; Middle Aged; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan | 1980 |
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Topics: Adult; Biopterins; Child; Diagnosis, Differential; Humans; Methods; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Progress in phenylketonuria: defects in the metabolism of biopterin.
Topics: Biopterins; Child; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Differential diagnosis of variant forms of hyperphenylalaninemia.
Topics: Diagnosis, Differential; Humans; Phenylalanine; Phenylketonurias | 1980 |
American Academy of Pediatrics. Committee on Nutrition. New developments in hyperphenylalaninemia.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1980 |
Chromatographic determination and mass spectrometric identification of gamma-glutamylphenylalanine, a urinary constituent in phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Dipeptides; Female; Humans; Infant; Infant, Newborn; Mass Spectrometry; Phenylalanine; Phenylketonurias | 1980 |
Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals.
Topics: Adult; Amino Acids; Aminobutyrates; Child; Child, Preschool; Female; Heterozygote; Homozygote; Humans; Infant; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1980 |
Rapid automated ion-exchange analysis of plasma tyrosine and phenylalanine with data print-out.
Topics: Autoanalysis; Chromatography, Ion Exchange; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1980 |
[Follow-up in mild hyperphenylalaninemia].
Topics: Age Factors; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1980 |
The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria.
Topics: Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1980 |
Effect of dietary phenylalanine restriction on visual attention span in mentally retarded subjects with phenylketonuria.
Topics: Adolescent; Adult; Attention; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Vision, Ocular | 1980 |
The offspring of a phenylketonuric couple.
Topics: Adult; Child; Child Development; Female; Homozygote; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1980 |
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.
Topics: Abortion, Spontaneous; Birth Weight; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1980 |
Effect of an abuse dose of aspartame upon plasma and erythrocyte levels of amino acids in phenylketonuric heterozygous and normal adults.
Topics: Amino Acids; Aspartame; Aspartic Acid; Dipeptides; Dose-Response Relationship, Drug; Erythrocytes; Female; Heterozygote; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias | 1980 |
Phenylketonuria: epitome of human biochemical genetics (second of two parts).
Topics: Child, Preschool; Diagnosis, Differential; Diet; Female; Genetic Carrier Screening; Homeostasis; Humans; Infant; Infant, Newborn; Intelligence Tests; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1980 |
Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.
Topics: Congenital Abnormalities; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pierre Robin Syndrome; Pregnancy; Pregnancy Complications | 1980 |
Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
Topics: Biopterins; Child, Preschool; Diagnosis, Differential; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Absence of a significant renal threshold for two aromatic acids in phenylketonuric children over two years of age.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Female; Glomerular Filtration Rate; Humans; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1980 |
Prospective study of early neonatal screening for phenylketonuria.
Topics: Age Factors; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Prospective Studies | 1981 |
A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Child; Female; Fibroblasts; Humans; Intellectual Disability; Liver; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1980 |
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Chromatography, High Pressure Liquid; Humans; Liver; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Accuracy of newborn screening programs for phenylketonuria.
Topics: Fetal Blood; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1981 |
EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes.
Topics: Adolescent; Adult; Child; Child, Preschool; Electroencephalography; Evoked Potentials; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Seizures | 1981 |
Plasma molybdenum concentrations in children with and without phenylketonuria.
Topics: Child; Child, Preschool; Female; Food, Formulated; Humans; Male; Molybdenum; Phenylalanine; Phenylketonurias | 1993 |
Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods.
Topics: Animals; Animals, Newborn; Axons; Corpus Callosum; Disease Models, Animal; Female; Male; Molecular Weight; Myelin Basic Protein; Myelin Sheath; Neurofilament Proteins; Neurons; Oligodendroglia; Phenylalanine; Phenylketonurias; Prosencephalon; Rats; Rats, Sprague-Dawley | 1993 |
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Portugal; Pterins | 1993 |
An animal model of early-treated PKU.
Topics: Animals; Animals, Newborn; Behavior, Animal; Disease Models, Animal; Drug Therapy, Combination; Fetus; Homovanillic Acid; Hydroxyindoleacetic Acid; Injections; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Time Factors | 1994 |
The phenylalanine response curve in relation to growth and mental development in the first year of life.
Topics: Child, Preschool; Developmental Disabilities; Growth Disorders; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1994 |
Nutrient intake and food consumption of adolescents and young adults with phenylketonuria.
Topics: Adolescent; Adult; Age Factors; Amino Acids; Child; Data Interpretation, Statistical; Diet; Diet Surveys; Eating; Energy Intake; Female; Humans; Male; Minerals; Phenylalanine; Phenylketonurias; Vitamins | 1995 |
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.
Topics: Alleles; DNA Mutational Analysis; Female; Gene Expression Regulation, Enzymologic; Genetic Testing; Genotype; Humans; Infant; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation | 1995 |
Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey.
Topics: Adult; Alopecia; Appetite Regulation; Behavior; Brain Diseases, Metabolic; Diet, Protein-Restricted; Humans; Odorants; Phenylalanine; Phenylketonurias; Treatment Outcome; Weight Gain; Weight Loss | 1995 |
Physical growth in patients with phenylketonuria.
Topics: Body Height; Body Weight; Case-Control Studies; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1995 |
Radiological assessment of the hand and wrist in phenylketonuria and hyperphenylalaninaemia.
Topics: Adolescent; Adult; Age Determination by Skeleton; Bone and Bones; Bone Density; Bone Development; Child; Child, Preschool; Female; Hand; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Wrist Joint | 1995 |
Methylmalonic aciduria and urolithiasis in a Chinese boy with untreated phenylketonuria.
Topics: Child, Preschool; Humans; Male; Methylmalonic Acid; Phenylalanine; Phenylketonurias; Urinary Calculi | 1995 |
Comparison of different indices of dietary control in phenylketonuria.
Topics: Child; Cluster Analysis; Female; Humans; Male; Nutrition Assessment; Phenylalanine; Phenylketonurias; Reproducibility of Results | 1995 |
Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change.
Topics: Adolescent; Adult; Amino Acids; Brain; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors | 1995 |
Phenylalanine, other large neutral amino acids and RNA catabolites as markers for protein biosynthesis in phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; RNA | 1993 |
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
Topics: Alcohol Oxidoreductases; Base Sequence; Biopterins; Cells, Cultured; DNA Primers; Humans; Infant; Male; Molecular Sequence Data; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 1994 |
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Topics: Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1994 |
A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria.
Topics: Amino Acids; Animals; Body Weight; Diet, Protein-Restricted; Disease Models, Animal; Dosage Forms; Drug Compounding; Intestinal Mucosa; Intestinal Secretions; Intestines; Male; Models, Biological; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rats; Rats, Sprague-Dawley; Time Factors | 1995 |
Unchanged MRI of myelin in adolescents with PKU supplied with non-phe essential amino acids after dietary relaxation.
Topics: Adolescent; Amino Acids, Essential; Brain; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Myelin Proteins; Myelin Sheath; Phenylalanine; Phenylketonurias | 1994 |
Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early. Dutch National PKU Steering Committee.
Topics: Age Factors; Child, Preschool; Female; Humans; Infant; Male; Mothers; Outcome Assessment, Health Care; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Residence Characteristics; Severity of Illness Index; Social Class | 1994 |
Identification and quantitation of phenylalanine in the brain of patients with phenylketonuria by means of localized in vivo 1H magnetic-resonance spectroscopy.
Topics: Adult; Brain Chemistry; Humans; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 1995 |
Neurological findings in early treated phenylketonuria.
Topics: Attention; Child; Female; Humans; Intelligence; Magnetic Resonance Imaging; Male; Motor Skills; Phenylalanine; Phenylketonurias; Psychomotor Performance | 1995 |
Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.
Topics: Genotype; Haplotypes; Humans; Infant, Newborn; Oligonucleotide Probes; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Spain | 1994 |
Effect of phenylalanine and its metabolites on ATP diphosphohydrolase activity in synaptosomes from rat cerebral cortex.
Topics: Animals; Apyrase; Cerebral Cortex; Disease Models, Animal; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Wistar; Synaptosomes | 1994 |
[Trace elements balance in treated phenylketonuria children. Consequences of selenium deficiency on lipid peroxidation].
Topics: Child; Child, Preschool; Female; Glutathione Peroxidase; Humans; Infant; Lipid Peroxidation; Male; Malondialdehyde; Phenylalanine; Phenylketonurias; Selenium; Trace Elements | 1993 |
The Maternal Phenylketonuria Collaborative Study: a status report.
Topics: Abortion, Spontaneous; Adolescent; Adult; Congenital Abnormalities; Embryonic and Fetal Development; Female; Follow-Up Studies; Gestational Age; Humans; Infant, Low Birth Weight; Infant, Newborn; Intellectual Disability; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Prospective Studies | 1994 |
No white matter abnormalities in untreated patients with persistent hyperphenylalaninaemia: findings in magnetic resonance imaging. German PKU Collaborative Study.
Topics: Adolescent; Adult; Brain; Humans; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias; Tomography, Emission-Computed, Single-Photon | 1994 |
Cranial MRI in PKU: evaluation of a critical threshold for blood phenylalanine.
Topics: Adolescent; Brain; Female; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias | 1994 |
Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria.
Topics: Adolescent; Brain; Child; DNA; Haplotypes; Humans; Magnetic Resonance Imaging; Mutation; Phenylalanine; Phenylketonurias; Polymorphism, Restriction Fragment Length | 1993 |
Magnetic resonance imaging of the brain in phenylketonuria.
Topics: Adolescent; Adult; Brain; Child; Evoked Potentials, Somatosensory; Evoked Potentials, Visual; Female; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Middle Aged; Neurologic Examination; Phenylalanine; Phenylketonurias | 1994 |
Origins of hyperphenylalaninemia in Israel.
Topics: Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Genetic Variation; Genotype; Haplotypes; Humans; Israel; Jews; Middle East; Molecular Epidemiology; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length | 1994 |
Interhemispheric transfer in children with early-treated phenylketonuria.
Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Brain Damage, Chronic; Child; Corpus Callosum; Dominance, Cerebral; Female; Follow-Up Studies; Humans; Intelligence; Male; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reaction Time; Reference Values | 1994 |
Dependence of the utilization of a phenylalanine-free amino acid mixture on different amounts of single dose ingested. A case report.
Topics: Adult; Amino Acids; Dose-Response Relationship, Drug; Female; Humans; Phenylalanine; Phenylketonurias | 1994 |
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
Topics: Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Infant; Phenylalanine; Phenylketonurias | 1994 |
Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.
Topics: Adult; DNA; Female; Genotype; Heterozygote; Humans; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Regression Analysis; Tyrosine | 1994 |
[Maternal phenylketonuria: a misdiagnosed cause of embryopathy or fetal disease].
Topics: Female; Fetal Diseases; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Teratogens | 1994 |
Phenylketonuria screening with a fluorometric microplate assay.
Topics: Fluorometry; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity | 1994 |
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Ireland; Liver; Molecular Sequence Data; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction | 1994 |
Vitamin B-6 status of school-aged patients with phenylketonuria.
Topics: Adolescent; Alkaline Phosphatase; Child; Diet; Dietary Proteins; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pyridoxal Phosphate; Pyridoxic Acid; Pyridoxine | 1994 |
Neonatal screening for phenylketonuria: evaluation of an automated enzymatic method.
Topics: Amino Acid Oxidoreductases; Autoanalysis; Chromatography, High Pressure Liquid; Cost-Benefit Analysis; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Pilot Projects; Reproducibility of Results; Sensitivity and Specificity | 1994 |
Personality characteristics in patients with phenylketonuria treated early.
Topics: Child; Female; Germany; Humans; Intelligence; Male; Personality; Personality Disorders; Phenylalanine; Phenylketonurias; Prospective Studies; Surveys and Questionnaires | 1994 |
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters.
Topics: Adult; Child Development; Diabetes, Gestational; Female; Genotype; Humans; Infant; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1994 |
Growth and skeletal maturation in children with phenylketonuria.
Topics: Age Determination by Skeleton; Body Height; Body Weight; Bone Development; Cephalometry; Child; Child, Preschool; Female; Growth; Humans; Infant; Intelligence; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias | 1994 |
Feto-maternal plasma phenylalanine concentration gradient from 19 weeks gestation to term.
Topics: Chromatography, Ion Exchange; Congenital Abnormalities; Cordocentesis; Female; Fetal Blood; Gestational Age; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Ultrasonography | 1994 |
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Codon; Denmark; DNA; Exons; Genotype; Humans; Infant, Newborn; Introns; Mass Screening; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation | 1994 |
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
Topics: Base Sequence; DNA Mutational Analysis; Female; Gene Expression Regulation, Enzymologic; Genetic Variation; Humans; Israel; Jews; Molecular Sequence Data; Morocco; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length; Tunisia | 1993 |
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Topics: Amino Acid Sequence; Base Sequence; Codon; DNA; Exons; Glutamates; Glutamic Acid; Glycine; Humans; Infant; Leucine; Liver; Lymphocytes; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length; Transcription, Genetic | 1993 |
Breast-feeding in the management of the newborn with phenylketonuria: a practical approach to dietary therapy.
Topics: Bottle Feeding; Breast Feeding; Female; Humans; Infant Food; Infant, Newborn; Lactation; Milk, Human; Phenylalanine; Phenylketonurias | 1994 |
Phenylalanine and other amino acids in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Tyrosine | 1993 |
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genotype; Humans; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylketonurias | 1993 |
Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Diet Therapy; Female; Humans; Intelligence; Intelligence Tests; Longitudinal Studies; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Radiography; Severity of Illness Index | 1993 |
Capillary zone electrophoresis determination of phenylalanine in serum: a rapid, inexpensive and simple method for the diagnosis of phenylketonuria.
Topics: Capillary Action; Electrophoresis; Humans; Phenylalanine; Phenylketonurias; Quality Control; Tryptophan; Tyrosine | 1994 |
Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria.
Topics: Adult; Aspartame; Brain; Dietary Proteins; Female; Heterozygote; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1994 |
Intelligence in mild atypical phenylketonuria.
Topics: Child, Preschool; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Regression Analysis; Social Class | 1994 |
Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971.
Topics: Adolescent; Age Factors; Analysis of Variance; Cohort Studies; Humans; Intelligence; Linear Models; Phenylalanine; Phenylketonurias; Prospective Studies; Treatment Outcome | 1994 |
Pregnancy complicated by maternal phenylketonuria.
Topics: Female; Fetal Diseases; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Retrospective Studies | 1993 |
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
Topics: Alcohol Oxidoreductases; Biopterins; Erythrocytes; Female; Half-Life; Humans; Kinetics; Male; Neopterin; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins | 1993 |
Genotype-phenotype correlations in phenylketonuria.
Topics: Child; Child, Preschool; DNA; Genotype; Humans; Infant; Infant, Newborn; Intelligence Tests; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies; Risk Factors | 1993 |
[Phenylketonuria: illness experience and coping mechanisms].
Topics: Adaptation, Psychological; Adolescent; Child; Cost of Illness; Female; Humans; Male; Mothers; Patient Compliance; Personality Development; Phenylalanine; Phenylketonurias; Sick Role | 1993 |
Extracellular purine nucleosides elevated in chronic recidiving central nervous injury by deranged metabolism in phenylketonuria.
Topics: Adolescent; Adult; Central Nervous System; Child; Child, Preschool; Humans; Hypoxia, Brain; Infant; Phenylalanine; Phenylketonurias; Purine Nucleosides | 1993 |
[Dietary management of phenylketonuria patients using a personal computer].
Topics: Female; Humans; Infant; Male; Microcomputers; Nutritional Requirements; Phenylalanine; Phenylketonurias; Software; Therapy, Computer-Assisted | 1993 |
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Mutational Analysis; Europe; Genotype; Humans; Molecular Sequence Data; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sicily | 1993 |
[Phenylketonuria--change in therapeutic strategies. Study of intellectual development and dietary compliance of young phenylketonuria patients].
Topics: Adolescent; Child; Child, Preschool; Female; Follow-Up Studies; Health Knowledge, Attitudes, Practice; Humans; Intelligence; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies | 1993 |
[Phenylketonuria with adult-onset neurological manifestation].
Topics: Adult; Brain; Humans; Magnetic Resonance Imaging; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Quadriplegia; Visual Fields | 1993 |
Tetrahydrobiopterin deficiency and an international database of patients.
Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries | 1993 |
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency.
Topics: Adrenal Glands; Animals; Biopterins; Corpus Striatum; Dopamine; Epinephrine; Female; Fetal Blood; Guinea Pigs; Hypoxanthines; Infusions, Intravenous; Liver; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1993 |
Experimental research on a new treatment for maternal phenylketonuria(PKU).
Topics: Animals; Biopterins; Brain; Disease Models, Animal; Female; Fetus; Guinea Pigs; Infusions, Intravenous; Liver; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1993 |
Rapid automated enzymatic measurement of phenylalanine in plasma and blood spots.
Topics: Amino Acid Oxidoreductases; Chromatography, High Pressure Liquid; Humans; Immunoenzyme Techniques; Phenylalanine; Phenylketonurias; Reproducibility of Results | 1993 |
Decreased bone mineral density in children with phenylketonuria.
Topics: Absorptiometry, Photon; Analysis of Variance; Body Height; Bone Density; Child; Diet; Female; Humans; Male; Phenylalanine; Phenylketonurias; Regression Analysis | 1994 |
Proton in vivo spectroscopy of patients with hyperphenylalaninaemia.
Topics: Adult; Aspartic Acid; Biopterins; Brain; Brain Chemistry; Brain Diseases; Child; Choline; Creatine; Demyelinating Diseases; Female; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias | 1993 |
[Maternal hyperphenylalaninemia].
Topics: Female; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1993 |
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors | 1993 |
Mouse models of human phenylketonuria.
Topics: Animals; Blotting, Western; Cross Reactions; Diet; Disease Models, Animal; Genotype; Humans; Mice; Mutagenesis; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1993 |
[Treatment of phenylketonuria: wish and reality].
Topics: Adaptation, Psychological; Adolescent; Child; Feeding Behavior; Female; Follow-Up Studies; Humans; Intelligence; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies; Sick Role | 1993 |
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Chemical Analysis; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 1993 |
Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin.
Topics: Adult; Biopterins; Female; Genetic Carrier Screening; Humans; Male; Neopterin; Phenylalanine; Phenylketonurias; Tyrosine | 1993 |
Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing.
Topics: Blood Specimen Collection; Child; Child, Preschool; Fasting; Food; Humans; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1993 |
Phenylalanine determined in plasma with use of phenylalanine dehydrogenase and a centrifugal analyzer.
Topics: Amino Acid Oxidoreductases; Autoanalysis; Humans; NAD; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Quality Control | 1993 |
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.
Topics: Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; North Carolina; Phenylalanine; Phenylketonurias; Quality Control; Reference Values; Tyrosine | 1993 |
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Catalysis; Child; Child, Preschool; Female; Humans; Hydroxylation; Infant; Male; Phenylalanine; Phenylketonurias | 1993 |
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.
Topics: Base Sequence; Child, Preschool; DNA Mutational Analysis; Gene Expression; Genotype; Haplotypes; Humans; Molecular Sequence Data; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sweden | 1993 |
[Diet therapy in phenylketonuria].
Topics: Adolescent; Age Factors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias | 1993 |
EEGs in phenylketonuria. I: Follow-up to adulthood; II: Short-term diet-related changes in EEGs and cognitive function.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Cognition Disorders; Electroencephalography; Female; Follow-Up Studies; Humans; Infant; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1993 |
[Embryofetopathy of the newborn infant of a phenylketonuric mother. A diagnosis not to be missed].
Topics: Adult; Female; Fetal Diseases; Fetal Growth Retardation; Heart Septal Defects; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1993 |
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Counseling; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 1993 |
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Topics: Adult; Child; Female; Haplotypes; Heterozygote; Homozygote; Humans; Male; Maternal-Fetal Exchange; Mutation; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Pregnancy; Pregnancy Complications | 1993 |
Controlled diet in phenylketonuria may cause serum carnitine deficiency.
Topics: Adolescent; Adult; Carnitine; Child; Child, Preschool; Diet; Humans; Infant; Phenylalanine; Phenylketonurias | 1993 |
The use of gelatin capsules for ingestion of formula in dietary treatment of maternal phenylketonuria.
Topics: Adult; Amino Acids; Capsules; Female; Food, Formulated; Gelatin; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1993 |
Relation between phenotype and genotype in phenylketonuric patients from Bulgaria.
Topics: Bulgaria; Child; Genotype; Humans; Phenotype; Phenylalanine; Phenylketonurias | 1993 |
The effect of nutrient intake on pregnancy outcome in maternal phenylketonuria.
Topics: Female; Humans; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome | 1993 |
In-vivo NMR spectroscopy in patients with phenylketonuria: changes of cerebral phenylalanine levels under dietary treatment.
Topics: Adolescent; Adult; Blood-Brain Barrier; Creatine; Diet; Humans; Magnetic Resonance Imaging; Occipital Lobe; Parietal Lobe; Phenylalanine; Phenylketonurias | 1995 |
ATP diphosphohydrolase activity in synaptosomes from cerebral cortex of rats subjected to chemically induced phenylketonuria.
Topics: Animals; Apyrase; Cerebral Cortex; Female; Male; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Synaptosomes | 1995 |
The dynamics of brain concentrations of phenylalanine and its clinical significance in patients with phenylketonuria determined by in vivo 1H magnetic resonance spectroscopy.
Topics: Adult; Brain; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1995 |
Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria.
Topics: Adolescent; Adult; Brain Damage, Chronic; Child; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Scotland | 1995 |
Immune status of children with phenylketonuria.
Topics: Adolescent; Amino Acids; Blood Cell Count; Child; Child, Preschool; Complement C3c; Diet Records; Dietary Proteins; Female; Hematocrit; Humans; Immunoglobulin A; Immunoglobulin G; Interleukin-1; Interleukin-2; Iron; Male; Phenylalanine; Phenylketonurias; Selenium; Serum Albumin; Zinc | 1995 |
Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients.
Topics: Adolescent; Adult; Atrophy; Brain; Cerebral Cortex; Child; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias | 1995 |
An automated enzymatic method on the Roche COBAS MIRA S for monitoring phenylalanine in dried blood spots of patients with phenylketonuria.
Topics: Amino Acid Oxidoreductases; Blood Chemical Analysis; Evaluation Studies as Topic; Humans; Phenylalanine; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity | 1996 |
[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring].
Topics: Adolescent; Adult; Czech Republic; Female; Humans; Incidence; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications | 1996 |
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Topics: Alleles; Base Sequence; Ethnicity; Europe; Forecasting; Gene Expression Regulation; Genetics, Population; Genotype; Georgia; Heterozygote; Humans; Infant, Newborn; Molecular Biology; Mutation; Neonatal Screening; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Sequence Analysis | 1996 |
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
Topics: Adolescent; Agenesis of Corpus Callosum; Brain; Child; Corpus Callosum; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Mothers; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects | 1996 |
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
Topics: Alleles; Base Sequence; DNA Mutational Analysis; DNA Primers; Europe; Female; Gene Frequency; Genetic Variation; Genotype; Humans; Minisatellite Repeats; Molecular Sequence Data; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; United States | 1996 |
Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet.
Topics: Adolescent; Child; Child, Preschool; Circadian Rhythm; Dietary Proteins; Energy Intake; Female; Food, Formulated; Humans; Infant; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias | 1996 |
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.
Topics: Alleles; Biopterins; Egypt; Electrophoresis, Polyacrylamide Gel; Genetic Testing; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Sequence Analysis | 1996 |
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.
Topics: Cell Line; Heterozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length; Spain | 1996 |
The use of a low phenylalanine diet in response to the challenging behaviour of a man with untreated phenylketonuria and profound learning disabilities.
Topics: Adult; Aggression; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior Disorders; Social Environment; Treatment Outcome | 1995 |
Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria.
Topics: Adult; Amino Acids; Biological Transport; Blood-Brain Barrier; Brain; Humans; Leucine; Male; Phenylalanine; Phenylketonurias | 1995 |
Phenotyping of phenylketonuric patients by oral phenylalanine loading.
Topics: Administration, Oral; Child, Preschool; Dose-Response Relationship, Drug; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1996 |
A fluorescent multiplex ARMS method for rapid mutation analysis.
Topics: Alleles; Base Sequence; DNA Mutational Analysis; DNA Primers; Fluorescent Dyes; Genetic Carrier Screening; Genetic Testing; Humans; Molecular Sequence Data; Northern Ireland; Phenylalanine; Phenylketonurias; Point Mutation; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid | 1995 |
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria.
Topics: Child; Child, Preschool; Cluster Analysis; Female; Germany; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Randomized Controlled Trials as Topic | 1996 |
Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study.
Topics: Child, Preschool; Follow-Up Studies; Humans; Infant; Paris; Phenylalanine; Phenylketonurias; Prospective Studies; Socioeconomic Factors; Treatment Outcome; Wechsler Scales | 1996 |
Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center.
Topics: Czech Republic; Educational Status; Female; Follow-Up Studies; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1996 |
Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency.
Topics: Adolescent; Brain; Evoked Potentials, Somatosensory; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Pterins | 1996 |
Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients.
Topics: Adult; Evoked Potentials, Somatosensory; Humans; Levodopa; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Reaction Time; Treatment Outcome | 1996 |
Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study.
Topics: Adolescent; Adult; Brain; Carbon Radioisotopes; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Spiperone; Tomography, Emission-Computed; Tyrosine | 1996 |
Phenylketonuria: treatment in adolescence and adult life.
Topics: Adolescent; Adult; Diet, Protein-Restricted; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1996 |
Towards self-monitoring and self-treatment in phenylketonuria--a way to better diet compliance.
Topics: Humans; Monitoring, Physiologic; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias | 1996 |
Recommendations for protein and amino acid intake in phenylketonuric patients.
Topics: Adolescent; Adult; Amino Acids; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias; Pregnancy; Weaning | 1996 |
Vitamin B12 deficiency in adolescents and young adults with phenylketonuria.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Vitamin B 12 Deficiency | 1996 |
Early breastfeeding is linked to higher intelligence quotient scores in dietary treated phenylketonuric children.
Topics: Breast Feeding; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias; Retrospective Studies; Treatment Outcome | 1996 |
Need for a standardized procedure in the preparation of phenylalanine calibrators.
Topics: Calibration; Humans; Infant, Newborn; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Quality Control | 1996 |
Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.
Topics: Adult; Female; Humans; Intellectual Disability; Intelligence; Maternal-Fetal Exchange; Microcephaly; Middle Aged; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1996 |
Sustained attention in untreated non-PKU-hyperphenylalaninemia.
Topics: Adolescent; Adult; Attention; Exercise; Female; Humans; Male; Phenylalanine; Phenylketonurias; Reaction Time | 1996 |
In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.
Topics: Child, Preschool; Family; Female; Genotype; Humans; Hydroxylation; Kidney; Kinetics; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; Proteins | 1996 |
[A case report of mild from of phenylketonuria].
Topics: Adult; Biomarkers; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pteridines; Tremor | 1996 |
Deficits in selective and sustained attention processes in early treated children with phenylketonuria--result of impaired frontal lobe functions?
Topics: Adolescent; Attention; Attention Deficit Disorder with Hyperactivity; Child; Child, Preschool; Female; Follow-Up Studies; Frontal Lobe; Humans; Infant; Infant, Newborn; Intelligence; Male; Mental Recall; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1996 |
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia.
Topics: Consanguinity; Female; Humans; Infant; Infant, Newborn; Microcephaly; Neonatal Screening; Phenylalanine; Phenylketonurias; Pregnancy; Reference Values | 1996 |
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Topics: Adolescent; Alleles; Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Exons; Female; Genetic Counseling; Humans; Male; Mutation; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prenatal Diagnosis | 1996 |
Evidence for central nervous system glial cell plasticity in phenylketonuria.
Topics: Adult; Animals; Biomarkers; Brain; Glial Fibrillary Acidic Protein; Gliosis; Humans; Mice; Mice, Mutant Strains; Mutation; Myelin Basic Protein; Myelin Sheath; Neuroglia; Neuronal Plasticity; Oligodendroglia; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; RNA, Messenger | 1996 |
Psychiatric disorders in adult patients with early-treated phenylketonuria.
Topics: Adolescent; Adult; Brain; Cross-Sectional Studies; Educational Status; Female; Humans; Intelligence; Magnetic Resonance Imaging; Male; Mental Disorders; Parenting; Parents; Phenylalanine; Phenylketonurias; Sex Factors | 1997 |
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.
Topics: Electroencephalography; Electromyography; Humans; Infant; Magnetic Resonance Imaging; Male; Muscle Hypotonia; Phenylalanine; Phenylketonurias | 1997 |
Effect of experimental hyperphenylalaninemia on the postnatal rat brain.
Topics: Animals; Cerebellum; Disease Models, Animal; Extracellular Matrix; Glial Fibrillary Acidic Protein; Hyaluronic Acid; Nerve Tissue Proteins; Neural Cell Adhesion Molecules; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Telencephalon | 1997 |
Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge.
Topics: False Negative Reactions; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Patient Discharge; Phenylalanine; Phenylketonurias | 1997 |
Cardiovascular defects among the progeny of mouse phenylketonuria females.
Topics: Animals; Blood Vessels; Diet; Disease Models, Animal; Female; Genotype; Heart Defects, Congenital; Humans; Maternal-Fetal Exchange; Mice; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1997 |
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior | 1997 |
Microtiter plate assay for biopterin using cryopreserved Crithidia fasciculata.
Topics: Animals; Biological Assay; Biopterins; Crithidia fasciculata; Cryoprotective Agents; Humans; Molecular Structure; Phenylalanine; Phenylketonurias; Reference Values; Reproducibility of Results; Sensitivity and Specificity | 1997 |
Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria.
Topics: Adult; Brain; Female; Humans; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias | 1997 |
Comparison of four different phenylalanine determination methods.
Topics: Humans; Phenylalanine; Phenylketonurias; Reagent Kits, Diagnostic | 1997 |
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Attention; Career Choice; Data Interpretation, Statistical; Female; Genotype; Humans; Intelligence; Job Satisfaction; Learning Disabilities; Magnetic Resonance Imaging; Male; Movement Disorders; Nervous System Diseases; Neurotic Disorders; Phenotype; Phenylalanine; Phenylketonurias; Problem Solving; Psychomotor Performance; Tremor | 1997 |
Executive function and psychosocial adjustment in children with early treated phenylketonuria: correlation with historical and concurrent phenylalanine levels.
Topics: Adjustment Disorders; Child; Child, Preschool; Cognition Disorders; Female; Humans; Infant; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1997 |
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.
Topics: Exons; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1997 |
Maternal PKU and breastfeeding: case report of identical twin mothers.
Topics: Adult; Breast Feeding; Diseases in Twins; Female; Humans; Milk, Human; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1997 |
Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering Committee.
Topics: Body Height; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 1997 |
Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence.
Topics: Adolescent; Brain; Child; Female; Humans; Longitudinal Studies; Male; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias | 1997 |
Genetic disorders involving recycling and formation of tetrahydrobiopterin.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Incidence; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1998 |
Breastfeeding the infant with PKU.
Topics: Adult; Breast Feeding; Consultants; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Milk, Human; Phenylalanine; Phenylketonurias | 1997 |
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Dihydropteridine Reductase; DNA Mutational Analysis; DNA, Complementary; Female; Genes; Humans; Infant, Newborn; Introns; Japan; Male; Molecular Sequence Data; Phenylalanine; Phenylketonurias; Point Mutation; RNA Splicing; RNA, Messenger | 1997 |
Receiver operating characteristic plots to evaluate Guthrie, Wallac, and Isolab phenylalanine kit performance for newborn phenylketonuria screening.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Reagent Kits, Diagnostic; Reproducibility of Results; ROC Curve | 1997 |
Neuropsychological and neuroradiological (MRI) variations during phenylalanine load: protective effect of valine, leucine, and isoleucine supplementation.
Topics: Amino Acids, Branched-Chain; Brain; Child; Female; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Neural Pathways; Neuroprotective Agents; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Single-Blind Method | 1997 |
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.
Topics: Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Genotype; Heterozygote; Humans; Male; Oxidation-Reduction; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pilot Projects | 1997 |
Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.
Topics: Age Factors; Analysis of Variance; Attention; Case-Control Studies; Child; Child, Preschool; Cognition Disorders; Cross-Sectional Studies; Female; Humans; Infant; Inhibition, Psychological; Intelligence; Longitudinal Studies; Male; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Regression Analysis; Sex Factors; Tyrosine; Volition | 1997 |
Expression and characterization of the catalytic domain of human phenylalanine hydroxylase.
Topics: Binding Sites; Biopterins; Catalysis; Chromatography, High Pressure Liquid; Copper; Enzyme Activation; Escherichia coli; Ferrous Compounds; Humans; Iron; Kinetics; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins; Tyrosine | 1997 |
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
Topics: Amino Acid Substitution; Belgium; Codon, Terminator; DNA; DNA Mutational Analysis; Frameshift Mutation; Humans; Mutagenesis, Insertional; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation | 1998 |
Kinetics of phenylalanine transport at the human blood-brain barrier investigated in vivo.
Topics: Adolescent; Adult; Blood-Brain Barrier; Brain Chemistry; Child; Female; Humans; Kinetics; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 1997 |
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography.
Topics: Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; False Positive Reactions; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Multivariate Analysis; New York; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Reply to SP Bessman.
Topics: Diet; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1998 |
In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.
Topics: Brain; Humans; Nuclear Magnetic Resonance, Biomolecular; Phenylalanine; Phenylketonurias | 1998 |
Delusional disorder in a boy with phenylketonuria and amine metabolites in the cerebrospinal fluid after treatment with neuroleptics.
Topics: Adolescent; Amines; Humans; Male; Phenylalanine; Phenylketonurias; Schizophrenia, Paranoid | 1998 |
Delayed onset of phenylketonuria.
Topics: Breast Feeding; Chromatography, High Pressure Liquid; Genotype; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1998 |
Expression of Ca2+ channels from rat brain with model phenylketonuria in Xenopus oocytes.
Topics: Animals; Brain Chemistry; Cadmium; Calcium Channel Blockers; Calcium Channels; Electrophysiology; Ion Channel Gating; omega-Agatoxin IVA; omega-Conotoxin GVIA; Oocytes; Peptides; Phenylalanine; Phenylketonurias; Rats; RNA, Messenger; Spider Venoms; Xenopus | 1998 |
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Genetic Heterogeneity; Humans; Italy; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; RNA Splicing | 1998 |
The advantage of phenylalanine to tyrosine ratio for the early detection of phenylketonuria.
Topics: Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children are correlated with dietary compliance.
Topics: Adolescent; Arachidonic Acid; Biomarkers; Child; Child, Preschool; Female; Humans; Male; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias; Reference Values; Thromboxane B2 | 1998 |
Does a single plasma phenylalanine predict quality of control in phenylketonuria?
Topics: Adolescent; Biomarkers; Child; Child, Preschool; Dietary Proteins; Energy Intake; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Predictive Value of Tests | 1998 |
Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.
Topics: Adolescent; Adult; Brain; Genotype; Humans; Phenylalanine; Phenylketonurias | 1998 |
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Topics: DNA Mutational Analysis; Genetics, Population; Haplotypes; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portugal | 1998 |
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Topics: Alleles; Europe; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1998 |
Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Hydroxylation; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343.
Topics: History, 20th Century; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1998 |
[Organization of dietetic assistance to children with phenylketonuria].
Topics: Central Nervous System Diseases; Child; Child Nutritional Physiological Phenomena; Diet, Protein-Restricted; Dietary Proteins; Female; Food, Formulated; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Russia | 1998 |
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Topics: Heterozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1998 |
Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations.
Topics: Adolescent; Adult; Child; Evoked Potentials, Visual; Female; Humans; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Radiography; Reaction Time; Vision Disorders | 1998 |
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.
Topics: Adult; Female; Genetic Heterogeneity; Heterozygote; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1998 |
Nutrient intake and growth of infants with phenylketonuria undergoing therapy.
Topics: Body Height; Body Weight; Diet; Dietary Proteins; Energy Intake; Female; Growth; Head; Humans; Infant; Infant Nutritional Physiological Phenomena; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Antioxidant status in hyperphenylalaninemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antioxidants; Catalase; Child; Child, Preschool; Electroencephalography; Erythrocytes; Female; Glutathione Peroxidase; Glutathione Reductase; Humans; Infant; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Superoxide Dismutase; Vitamin E | 1998 |
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydro-Lyases; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylketonurias; Pterins | 1998 |
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Chromosomes, Human, Pair 12; Databases, Factual; Genetic Variation; Haplotypes; Homozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Quebec | 1998 |
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).
Topics: Cell Line; Cloning, Molecular; Escherichia coli; Genotype; Humans; Mutation, Missense; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; Recombinant Fusion Proteins; Transcription, Genetic | 1998 |
Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria.
Topics: Adolescent; Adult; Blood-Brain Barrier; Brain; Child; Female; Genotype; Humans; Kinetics; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation | 1998 |
Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours.
Topics: Blood Specimen Collection; False Positive Reactions; Fluorometry; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1998 |
Treatment of phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
L-tryptophan in maternal phenylketonuria.
Topics: Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tryptophan; Tyrosine | 1998 |
Molecular characterization of phenylketonuria in Japanese patients.
Topics: Animals; COS Cells; Genotype; Humans; Japan; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Regression Analysis; Sequence Analysis, DNA; Transfection | 1998 |
Benefits of normalizing plasma phenylalanine: impact on behaviour and health. A case report.
Topics: Aged; Behavior; Gait; Humans; Leg; Male; Phenylalanine; Phenylketonurias; Self-Injurious Behavior; Spasm; Tremor | 1998 |
Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis.
Topics: Amidohydrolases; Biotin; Biotinidase; Child; Child, Preschool; Dermatitis, Seborrheic; Humans; Phenylalanine; Phenylketonurias | 1998 |
The origin of red blood cell biopterin.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Erythrocytes; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1998 |
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Topics: Adolescent; Adult; Educational Measurement; Electroencephalography; Genetic Testing; Germany; Humans; Intelligence Tests; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Mental Disorders; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Speech; Tomography, Emission-Computed | 1999 |
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
Topics: Female; Genetic Testing; Humans; Infant, Newborn; Italy; Mutation; Neonatal Screening; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 1999 |
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Topics: Adult; Age of Onset; Child; Consanguinity; Disease Progression; Follow-Up Studies; Humans; Male; Metabolism, Inborn Errors; Movement Disorders; Neurodegenerative Diseases; Nuclear Family; Phenylalanine; Phenylketonurias; Pteridines | 1998 |
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase.
Topics: Animals; Basidiomycota; Cloning, Molecular; Disease Models, Animal; Escherichia coli; Ethylnitrosourea; Humans; Injections, Intraperitoneal; Mice; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 1999 |
[An adult patient with phenylketonuria before and one year after reinstitution of diet therapy].
Topics: Adult; Child; Humans; Neurologic Examination; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Outcome | 1999 |
A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients.
Topics: Diet; Humans; Models, Biological; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 1999 |
Effects of dietary mixtures of amino acids on fetal growth and maternal and fetal amino acid pools in experimental maternal phenylketonuria.
Topics: Amino Acids, Branched-Chain; Animals; Body Weight; Brain; Brain Chemistry; Diet; Embryonic and Fetal Development; Female; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats; Rats, Long-Evans | 1999 |
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer.
Topics: Adenoviridae; Animals; COS Cells; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Humans; Hypopigmentation; Liver; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins; Tacrolimus; Time Factors; Transfection | 1999 |
Genotype and intellectual phenotype in untreated phenylketonuria patients.
Topics: Amino Acid Substitution; Dinucleotide Repeats; Genetic Markers; Genotype; Haplotypes; Humans; Intellectual Disability; Intelligence; Minisatellite Repeats; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Sequence Deletion; Victoria; White People | 1999 |
Tandem mass spectrometry: the tool of choice for diagnosing inborn errors of metabolism.
Topics: Amino Acids; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias | 1999 |
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria.
Topics: Adult; Amino Acid Transport Systems, Basic; Amino Acid Transport Systems, Neutral; Amino Acids; Biological Transport; Brain; Carrier Proteins; Humans; Male; Phenylalanine; Phenylketonurias | 1999 |
Structural basis of autoregulation of phenylalanine hydroxylase.
Topics: Allosteric Regulation; Amino Acid Sequence; Animals; Binding Sites; Catalytic Domain; Crystallization; Crystallography, X-Ray; Dimerization; Evolution, Molecular; Humans; Mixed Function Oxygenases; Models, Molecular; Molecular Sequence Data; Mutation; Peptide Fragments; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorylation; Protein Conformation; Rats; Sequence Homology, Amino Acid | 1999 |
Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.
Topics: Adult; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome | 1999 |
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.
Topics: Female; Genetic Carrier Screening; Genotype; Humans; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Reference Values; Tyrosine | 1999 |
Measurement of phenylalanine and tyrosine in plasma by high-performance liquid chromatography using the inherent fluorescence of aromatic amino acids.
Topics: Chromatography, High Pressure Liquid; Fluorescence; Humans; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1999 |
Plasma zinc, copper, and erythrocyte superoxide dismutase in children with phenylketonuria.
Topics: Child; Child, Preschool; Copper; Erythrocytes; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Reference Values; Superoxide Dismutase; Zinc | 1999 |
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Topics: Administration, Oral; Biopterins; Child; Child, Preschool; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1999 |
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.
Topics: Diagnosis, Differential; Humans; Infant, Newborn; Mass Spectrometry; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Reference Values; Sensitivity and Specificity; Tyrosine | 1999 |
Phenylketonuria: diet for life or not?
Topics: Age Factors; Brain; Child; Cognition; Electroencephalography; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Time Factors; Treatment Outcome | 1999 |
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism].
Topics: 5-Hydroxytryptophan; Algeria; Anticonvulsants; Biopterins; Brain; Child, Preschool; Consanguinity; Developmental Disabilities; Diet Therapy; Epilepsy; France; Humans; Levodopa; Magnetic Resonance Imaging; Male; Neopterin; Phenylalanine; Phenylketonurias | 1999 |
Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence.
Topics: Adolescent; Aging; Central Nervous System Diseases; Child; Female; Humans; Intelligence; Longitudinal Studies; Male; Mental Disorders; Motor Skills; Phenylalanine; Phenylketonurias | 1999 |
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Administration, Oral; Adolescent; Antioxidants; Biopterins; Child; Dihydropteridine Reductase; DNA Mutational Analysis; Drug Monitoring; Female; Humans; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1999 |
Alanine prevents the decrease of Na+,K+-ATPase activity in experimental phenylketonuria.
Topics: Alanine; Animals; Animals, Newborn; Cerebral Cortex; Injections, Subcutaneous; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase | 1999 |
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Topics: Adolescent; Child; Child, Preschool; DNA Mutational Analysis; Exons; Female; Genotype; Humans; Infant; Male; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1999 |
Issues in newborn screening for phenylketonuria.
Topics: Humans; Infant, Newborn; Mass Screening; Nutrition Policy; Phenylalanine; Phenylketonurias; Reference Values | 1999 |
Decreased serum ubiquinone-10 concentrations in phenylketonuria.
Topics: Adolescent; Adult; Antidotes; Child; Child, Preschool; Cholesterol; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Diet; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Reference Values; Retrospective Studies; Tyrosine; Ubiquinone | 1999 |
Development of guidelines for treatment of children with phenylketonuria: report of a meeting at the National Institute of Child Health and Human Development held August 15, 1995, National Institutes of Health, Bethesda, Maryland.
Topics: Adult; Child; Data Collection; Europe; Humans; Pediatrics; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Societies, Medical; United States | 1999 |
Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors.
Topics: Adult; Ambulatory Care Facilities; Attitude; Child; Data Collection; Diet Therapy; Humans; Parents; Phenylalanine; Phenylketonurias; Physicians; Practice Guidelines as Topic; United Kingdom; United States | 1999 |
When is careless conception a form of child abuse? Lessons from maternal phenylketonuria.
Topics: Adolescent; Adult; Embryonic and Fetal Development; Female; Fetal Diseases; Heart Defects, Congenital; Humans; Infant; Maternal Behavior; Microcephaly; Phenylalanine; Phenylketonurias; Physician-Patient Relations; Preconception Care; Pregnancy; Pregnancy Complications | 2000 |
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
Topics: Adult; Child Development; Cohort Studies; Developmental Disabilities; Diet; Female; Follow-Up Studies; Genotype; Gestational Age; Heart Defects, Congenital; Humans; Infant, Newborn; Intelligence; Medical Records; Microcephaly; Mutation; Phenylalanine; Phenylketonurias; Preconception Care; Pregnancy; Pregnancy Complications; Psychomotor Performance; Risk Factors; Ultrasonography, Prenatal | 2000 |
Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation.
Topics: Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Diet; Female; Humans; Hydroxylation; Lysine; Male; Nutritional Requirements; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Tyrosine | 2000 |
[Recommendations for the dietary treatment of phenylketonuria].
Topics: Child; Clinical Protocols; Humans; Phenylalanine; Phenylketonurias | 1999 |
Visual event-related potentials in children with phenylketonuria.
Topics: Adolescent; Analysis of Variance; Child; Child, Preschool; Cognition; Electroencephalography; Evoked Potentials; Evoked Potentials, Visual; Female; Humans; Male; Phenylalanine; Phenylketonurias; Reaction Time | 2000 |
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Topics: Amino Acid Substitution; DNA; DNA Mutational Analysis; Family Health; Female; Germany; Humans; Male; Mutation; Phenylalanine; Phenylketonurias; Point Mutation; Sequence Deletion | 2000 |
Brain phenylalanine concentration in the management of adults with phenylketonuria.
Topics: Adolescent; Adult; Brain Chemistry; Child; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2000 |
Wechsler subscale IQ and subtest profile in early treated phenylketonuria.
Topics: Biomarkers; Child; Child Rearing; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Retrospective Studies; Socioeconomic Factors; Wechsler Scales | 2000 |
An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability.
Topics: Adult; Age Factors; Diet, Protein-Restricted; Female; Humans; Intellectual Disability; Male; Middle Aged; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias; Prospective Studies; Treatment Outcome | 2000 |
Could salivary phenylalanine concentrations replace blood concentrations?
Topics: Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Regression Analysis; Saliva | 2000 |
Neuropsychological function in mild hyperphenylalaninemia.
Topics: Adolescent; Adult; Case-Control Studies; Child; Child Behavior Disorders; Cognition; Educational Status; Female; Humans; Intelligence; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychiatric Status Rating Scales | 2000 |
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.
Topics: Alleles; Animals; Behavior, Animal; Blotting, Western; Disease Models, Animal; Female; Genotype; Humans; Liver; Male; Mental Disorders; Mice; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2000 |
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Genotype; Humans; Infant; Intelligence; Intelligence Tests; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portugal; Statistics as Topic | 2000 |
Phenylalanine inhibition of the phosphorylation of cytoskeletal proteins from cerebral cortex of young rats is prevented by alanine.
Topics: Age Factors; Alanine; Animals; Cerebral Cortex; Cytoskeletal Proteins; Electrophoresis, Polyacrylamide Gel; Neurofilament Proteins; Phenylalanine; Phenylketonurias; Phosphorus Radioisotopes; Phosphorylation; Rats; Rats, Wistar; Tubulin | 2000 |
A double-edged sword.
Topics: Biological Assay; Child; History, 20th Century; Humans; Infant; Mass Screening; Phenylalanine; Phenylketonurias; United States | 2000 |
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].
Topics: Female; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Microcephaly; Nuclear Family; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 2000 |
"Hypotyrosinemia" in phenylketonuria.
Topics: Adolescent; Adult; Analysis of Variance; Child; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Review Literature as Topic; Severity of Illness Index; Tyrosine | 2000 |
Derangement of the dopaminergic system in phenylketonuria: study of the event-related potential (P300).
Topics: Adolescent; Adult; Child; Dopamine; Event-Related Potentials, P300; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 2000 |
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Dihydropteridine Reductase; Genotype; Humans; Phenotype; Phenylalanine; Phenylketonurias | 2000 |
Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls.
Topics: Adolescent; Analysis of Variance; Attitude to Health; Camping; Child; Female; Health Behavior; Health Knowledge, Attitudes, Practice; Humans; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias; Social Isolation; Social Support; Surveys and Questionnaires; Time Factors | 2000 |
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.
Topics: Aspartame; DNA; DNA Mutational Analysis; Heterozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 2000 |
Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls.
Topics: Adolescent; Adolescent Behavior; Affective Symptoms; Case-Control Studies; Child; Diabetes Mellitus, Type 1; Female; Humans; Male; Mental Disorders; Phenylalanine; Phenylketonurias | 2000 |
Molecular basis of mild hyperphenylalaninaemia in Turkey.
Topics: Child; Child, Preschool; DNA Mutational Analysis; Gene Frequency; Genotype; Humans; Infant; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Turkey | 2000 |
Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse?
Topics: Alkyl and Aryl Transferases; Animals; Brain Chemistry; Cell Count; Cell Line; Cholesterol; Demyelinating Diseases; Disease Models, Animal; Farnesyltranstransferase; Hydroxymethylglutaryl CoA Reductases; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Liver; Mice; Mice, Neurologic Mutants; Mice, Transgenic; Microsomes; Myelin Basic Protein; Oligodendroglia; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prosencephalon; Rhombencephalon | 2000 |
Plasma leptin concentrations in phenylketonuric patients.
Topics: Case-Control Studies; Child; Child, Preschool; Dopamine; Epinephrine; Female; Humans; Leptin; Male; Neurosecretory Systems; Norepinephrine; Phenylalanine; Phenylketonurias | 2000 |
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.
Topics: Adolescent; Adult; Brain Chemistry; Chromatography, High Pressure Liquid; Female; Humans; Intellectual Disability; Magnetic Resonance Spectroscopy; Male; Phenotype; Phenylalanine; Phenylketonurias; Time Factors | 2000 |
Survey of national guidelines for the treatment of phenylketonuria.
Topics: Adolescent; Adult; Aging; Child; Child, Preschool; Data Collection; Europe; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Time Factors; United States | 2000 |
Comments on cognition and intelligence in phenylketonuria.
Topics: Adult; Child; Cognition; Humans; Intelligence; Phenylalanine; Phenylketonurias | 2000 |
Patterns of academic achievement among patients treated early with phenylketonuria.
Topics: Achievement; Adolescent; Child; Female; Humans; Male; Neuropsychology; Phenylalanine; Phenylketonurias; Time Factors; Wechsler Scales | 2000 |
Final intelligence in late treated patients with phenylketonuria.
Topics: Adult; Aging; Humans; Intelligence; Phenylalanine; Phenylketonurias; Regression Analysis; Retrospective Studies; Stanford-Binet Test; Time Factors; Wechsler Scales | 2000 |
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Topics: Adult; Amino Acid Substitution; Animals; Child; Child, Preschool; Chlorocebus aethiops; COS Cells; Female; Genotype; Humans; Male; Mutagenesis, Site-Directed; Mutation, Missense; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2000 |
Blood-brain phenylalanine relationships in persons with phenylketonuria.
Topics: Adolescent; Adult; Brain Chemistry; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged; Phenylalanine; Phenylketonurias | 2000 |
Benefits of mutation analysis and examination of brain phenylalanine levels in the management of phenylketonuria.
Topics: Adolescent; Adult; Brain Chemistry; Child; Child, Preschool; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2000 |
Comparison of two different methods for measurement of phenylalanine in dried blood spots.
Topics: Amino Acid Oxidoreductases; Humans; Neonatal Screening; Phenylalanine; Phenylketonurias; Reagent Kits, Diagnostic; Reproducibility of Results; Sensitivity and Specificity | 2000 |
Effect of phenylalanine and p-chlorophenylalanine on Na+, K+-ATPase activity in the synaptic plasma membrane from the cerebral cortex of rats.
Topics: Animals; Animals, Newborn; Body Weight; Ca(2+) Mg(2+)-ATPase; Cerebral Cortex; Fenclonine; Nerve Tissue Proteins; Neurons; Organ Size; Pharmacokinetics; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Subcellular Fractions; Synaptic Membranes | 2000 |
Platelet Na+, K+-ATPase activity as a possible peripheral marker for the neurotoxic effects of phenylalanine in phenylketonuria.
Topics: Alanine; Biomarkers; Blood Platelets; Ca(2+) Mg(2+)-ATPase; Cell Membrane; Humans; Neurotoxins; Phenylalanine; Phenylketonurias; Sodium-Potassium-Exchanging ATPase | 2000 |
Use of the phenylalanine:tyrosine ratio to test newborns for phenylketonuria in a large public health screening programme.
Topics: California; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Laboratories; Neonatal Screening; Phenylalanine; Phenylketonurias; Pilot Projects; Reproducibility of Results; Sensitivity and Specificity; Tyrosine | 2000 |
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Topics: Alleles; Animals; Base Sequence; Disease Models, Animal; DNA Mutational Analysis; DNA, Complementary; Exons; Frameshift Mutation; Gene Deletion; Humans; Introns; Male; Mice; Models, Genetic; Molecular Sequence Data; Mutagenesis; Mutation; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; RNA Splice Sites; RNA, Messenger; Sequence Homology, Nucleic Acid | 2001 |
[A study of phenylketonuria heterozygotes screening in married population of Tianjin area].
Topics: Adult; Female; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias | 2001 |
'Mommy, why can't I have a hamburger like the other kids?'.
Topics: Adolescent; Adult; Biopterins; Diet, Protein-Restricted; Female; Genetic Therapy; Humans; Keratinocytes; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Skin Transplantation | 2000 |
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.
Topics: Biopterins; Cell Line; Coculture Techniques; Gene Expression; Genetic Therapy; Genetic Vectors; GTP Cyclohydrolase; Humans; Keratinocytes; Liver; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retroviridae; Transfection | 2000 |
A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427-->Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative subs
Topics: Enzyme Stability; Escherichia coli; Humans; Kinetics; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Structure, Quaternary; Recombinant Proteins; Spectrometry, Fluorescence; Transfection; Trypsin; Tryptophan | 2001 |
Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?
Topics: Biomarkers; Brain; Child; Dopamine; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prolactin | 2000 |
Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria.
Topics: Animals; Blood-Brain Barrier; Brain; Brain Chemistry; Humans; Magnetic Resonance Spectroscopy; Phenylalanine; Phenylketonurias | 2000 |
The effect of a phenylalanine-restricted diet on phenylketonuria.
Topics: Adolescent; Adult; Child; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 2000 |
Comments on neuropsychological approaches to treatment policy issues in phenylketonuria.
Topics: Child; Child, Preschool; Health Policy; Humans; Infant; Neuropsychological Tests; Neuropsychology; Phenylalanine; Phenylketonurias | 2000 |
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia.
Topics: Adolescent; Adult; Case-Control Studies; Child; Female; Genotype; Humans; Intelligence; Male; Mutation; Phenylalanine; Phenylketonurias; Psychomotor Performance | 2001 |
Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
Topics: Amino Acid Substitution; Biopterins; Genotype; Heterozygote; Humans; Infant, Newborn; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pterins | 2001 |
Successful treatment of phenylketonuria with tetrahydrobiopterin.
Topics: Antioxidants; Biopterins; Diet Therapy; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2001 |
The management of phenylketonuria (PKU).
Topics: Child; Child Behavior Disorders; Child, Preschool; Dietary Supplements; Humans; Infant; Infant, Newborn; Patient Compliance; Phenylalanine; Phenylketonurias | 1999 |
Life-long treatment for phenylketonuria.
Topics: Adolescent; Adult; Humans; Patient Education as Topic; Phenylalanine; Phenylketonurias | 1999 |
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Topics: Adolescent; Alcohol Oxidoreductases; Alleles; Base Sequence; Biopterins; Cells, Cultured; Child; Consanguinity; DNA Mutational Analysis; Dopamine; Female; Fibroblasts; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Mutation, Missense; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Skin; Turkey | 2001 |
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Black People; Chromatography, High Pressure Liquid; Dose-Response Relationship, Drug; Escherichia coli; Exons; Family Health; Humans; Kinetics; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Recombinant Proteins | 2001 |
Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Cholesterol; Cholesterol, Dietary; Humans; Infant; Linear Models; Phenylalanine; Phenylketonurias; Tyrosine; Ubiquinone | 2001 |
Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?
Topics: Adolescent; Adult; Child; Child, Preschool; Cholesterol; Cholesterol, HDL; Chromatography, Ion Exchange; Diet; Humans; Infant; Lipids; Phenylalanine; Phenylketonurias; Statistics as Topic; Triglycerides | 2001 |
Treatable neurotransmitter deficiency in mild phenylketonuria.
Topics: Adolescent; Antioxidants; Biogenic Monoamines; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 2001 |
Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations.
Topics: Adolescent; Age Factors; Analysis of Variance; Attention Deficit Disorder with Hyperactivity; Child; Cognition Disorders; Female; Humans; Male; Phenylalanine; Phenylketonurias; Reaction Time; Regression Analysis; Task Performance and Analysis | 2002 |
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria.
Topics: Adolescent; Adult; Blood-Brain Barrier; Female; Genotype; Humans; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 2001 |
Emotional outcome of adolescents and young adults with early and continuously treated phenylketonuria.
Topics: Adaptation, Psychological; Adolescent; Adult; Affective Symptoms; Female; Humans; Intelligence; Male; Personality Development; Phenylalanine; Phenylketonurias; Risk Factors; Sick Role | 2001 |
Clinical analysis of West syndrome associated with phenylketonuria.
Topics: Brain; Child, Preschool; Cohort Studies; Female; Humans; Incidence; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Myelin Sheath; Phenylalanine; Phenylketonurias; Prognosis; Retrospective Studies; Spasms, Infantile | 2001 |
Phenylalanine and phenylpyruvate inhibit ATP diphosphohydrolase from rat brain cortex.
Topics: 5'-Nucleotidase; Adenosine; Adenosine Diphosphate; Adenosine Triphosphate; Animals; Apyrase; Cerebral Cortex; Hydrolysis; Kinetics; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Presynaptic Terminals; Rats; Rats, Wistar; Synaptosomes | 2001 |
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
Topics: Age of Onset; Cognition; Dementia; Diagnosis, Differential; Diet, Protein-Restricted; Disease Progression; Female; Gait; Genotype; Humans; Magnetic Resonance Imaging; Middle Aged; Mutation; Neuropsychological Tests; Paraparesis, Spastic; Phenotype; Phenylalanine; Phenylketonurias; Treatment Outcome | 2001 |
Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: implication for maple syrup urine disease and phenylketonuria.
Topics: Amino Acid Transport Systems, Neutral; Amino Acids, Cyclic; Amino Acids, Neutral; Animals; Binding, Competitive; Biological Transport; Blood-Brain Barrier; Brain; Extracellular Space; Hippocampus; Keto Acids; Leucine; Maple Syrup Urine Disease; Microdialysis; Models, Biological; Nerve Tissue Proteins; Neurons; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 2002 |
[Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
Topics: Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA, Complementary; Female; Genetic Testing; Humans; Infant; Male; Mutation, Missense; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 2000 |
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Specimen Collection; Calibration; Colorimetry; False Positive Reactions; Germany; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Reproducibility of Results | 2002 |
Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria.
Topics: Adolescent; Age Factors; Analysis of Variance; Case-Control Studies; Child; Cognition; Developmental Disabilities; Female; Humans; Male; Memory, Short-Term; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Prefrontal Cortex | 2002 |
Quantitative determination of plasma phenylalanine and tyrosine by electrospray ionization tandem mass spectrometry.
Topics: Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Quality Control; Reference Values; Spectrometry, Mass, Electrospray Ionization; Tyrosine | 2002 |
Modelling the phenylalanine blood level response during treatment of phenylketonuria.
Topics: Child; Child, Preschool; Computer Simulation; Female; Humans; Kinetics; Male; Models, Biological; Phenotype; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Software; Tyrosine | 2001 |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Topics: 5-Hydroxytryptophan; Base Sequence; Biopterins; DNA Mutational Analysis; Founder Effect; Humans; Infant, Newborn; Intelligence; Levodopa; Mutation; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Taiwan; Treatment Outcome | 2001 |
Ubiquinone-10 content in lymphocytes of phenylketonuric patients.
Topics: Adolescent; Adult; Child; Chromatography, High Pressure Liquid; Coenzymes; Diet; Female; Humans; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Ubiquinone | 2002 |
Oxidative stress in a phenylketonuria animal model.
Topics: Animals; Brain; Catalase; Chromatography, High Pressure Liquid; Disease Models, Animal; Erythrocytes; Glucosephosphate Dehydrogenase; Glutathione; Hydrogen Peroxide; Lipid Peroxidation; Malondialdehyde; Mice; Mice, Knockout; NADP; Oxidation-Reduction; Oxidative Stress; Oxygen; Phenylalanine; Phenylketonurias | 2002 |
Specific inhibition of N-methyl-D-aspartate receptor function in rat hippocampal neurons by L-phenylalanine at concentrations observed during phenylketonuria.
Topics: Animals; Animals, Newborn; Binding Sites; Cells, Cultured; Dose-Response Relationship, Drug; Glycine; Hippocampus; Membrane Potentials; Neurons; Patch-Clamp Techniques; Phenylalanine; Phenylketonurias; Rats; Receptors, N-Methyl-D-Aspartate; Tyrosine | 2002 |
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain.
Topics: Animals; Animals, Newborn; Brain; Catalase; Glutathione Peroxidase; Luminescent Measurements; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Wistar; Superoxide Dismutase | 2002 |
Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet.
Topics: Adolescent; Adult; Arachidonic Acid; Child; Cholesterol; Docosahexaenoic Acids; Fatty Acids, Unsaturated; Humans; Lipids; Middle Aged; Phenylalanine; Phenylketonurias | 2002 |
Development of corn starch-gum bread for phenylketonuria patients.
Topics: Bread; Carrageenan; Food Additives; Food Technology; Humans; Phenylalanine; Phenylketonurias; Polysaccharides, Bacterial; Rheology; Starch; Surface-Active Agents; Zea mays | 2002 |
Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics.
Topics: Adaptation, Psychological; Adolescent; Attention; Child; Cognition; Diabetes Mellitus, Type 1; Female; Frontal Lobe; Humans; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 2002 |
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal.
Topics: Adaptation, Psychological; Adolescent; Case-Control Studies; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Socioeconomic Factors; Switzerland; Treatment Outcome | 2002 |
[Phenylketonuria outgrows childhood shoes. How much is diet still necessary?].
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Patient Care Team; Phenylalanine; Phenylketonurias; Pregnancy; Survival Rate | 2002 |
Inhibition of the mitochondrial respiratory chain by phenylalanine in rat cerebral cortex.
Topics: Animals; Cerebral Cortex; Electron Transport; Mitochondria; Phenylalanine; Phenylketonurias; Rats; Rats, Wistar | 2002 |
[Current aspects of hyperphenylalaninemia].
Topics: Clinical Enzyme Tests; Diagnosis, Differential; Dihydropteridine Reductase; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pyruvate Oxidase; Tyrosine Transaminase | 1977 |
A disorder of biogenic amines in dihydropteridine reductase deficiency.
Topics: 5-Hydroxytryptophan; Biogenic Amines; Brain; Child, Preschool; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Liver; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Vanilmandelic Acid | 1978 |
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Fibroblasts; Humans; Hydroxyindoleacetic Acid; Infant; Liver; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1978 |
An evaluation of routine follow-up blood screening of infants for phenylketonuria.
Topics: Costs and Cost Analysis; Evaluation Studies as Topic; Follow-Up Studies; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Polyarteritis Nodosa; Time Factors; United States | 1979 |
Abnormal amino acid metabolism and brain protein synthesis during neural development.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Humans; Leucine; Lipid Metabolism; Methionine; Myelin Sheath; Nerve Tissue Proteins; Nervous System; Neurotransmitter Agents; Phenethylamines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polyribosomes; Pyruvate Kinase; RNA, Transfer, Amino Acyl; Serotonin | 1978 |
Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia.
Topics: Amniotic Fluid; Animals; Cells, Cultured; Dihydropteridine Reductase; Female; Humans; Hydrogen-Ion Concentration; Liver; Lymphocytes; Male; Methods; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Sheep; Temperature | 1979 |
Abnormal organic acidurias in mentally retarded patients.
Topics: Acidosis; Acids; Adult; Benzoates; Child; Chromatography, Gas; Citrates; Female; Glycolates; Homovanillic Acid; Humans; Hydroxybutyrates; Intellectual Disability; Ketoglutaric Acids; Lactates; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Phenylacetates; Phenylalanine; Phenylketonurias; Specimen Handling; Succinates | 1975 |
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
Topics: Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine | 1975 |
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria.
Topics: Administration, Oral; Biopterins; Female; Humans; Infant; Injections, Intravenous; Phenylalanine; Phenylketonurias; Pteridines | 1975 |
Letter: Variant forms of phenylketonuria.
Topics: Biopterins; Catecholamines; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Infant, Newborn; Injections, Intravenous; Phenylalanine; Phenylketonurias | 1976 |
Penylalanine hydroxylation in phenylketonuria.
Topics: Child; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1976 |
Mental development of phenylketonuric children on or off diet after the age of six.
Topics: Adolescent; Child; Developmental Disabilities; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1976 |
Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Heterozygote; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Tyrosine; Wechsler Scales | 1977 |
Serum-tyrosine in patients with hyperphenylalaninaemia.
Topics: Adolescent; Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Phenylalanine has no effect on dihydropteridine reductase activity in phenylketonuria fibroblasts.
Topics: Child; Culture Media; Dihydropteridine Reductase; Fibroblasts; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1977 |
Phenylalanine hydroxylation in cultured fibroblasts from patients with phenylketonuria.
Topics: Cells, Cultured; Fibroblasts; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1976 |
Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman.
Topics: Abnormalities, Multiple; Brain; Congenital Abnormalities; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Prenatal Care | 1979 |
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
Topics: Alcohol Oxidoreductases; Biopterins; Child, Preschool; Female; Guanosine Triphosphate; Humans; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1979 |
New varieties of P.K.U.
Topics: 17-Hydroxysteroid Dehydrogenases; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Conception in a phenylketonuric woman.
Topics: Adult; Child; Congenital Abnormalities; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First | 1979 |
Phenylketonuria variants.
Topics: 17-Hydroxysteroid Dehydrogenases; Alcohol Oxidoreductases; Biopterins; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Investigation of atypical phenylketonuria.
Topics: Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Computer analysis of the EEG as an aid in the evaluation of dietetic treatment in phenylketonuria.
Topics: Adolescent; Brain; Child; Child, Preschool; Diagnosis, Computer-Assisted; Electroencephalography; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1979 |
Successful outcome of pregnancy in a phenylketonuric woman after low-phenylalanine diet introduced before conception.
Topics: Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care | 1979 |
The growing problems of phenylketonuria.
Topics: Age Factors; Child, Preschool; Female; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy | 1979 |
Hyperphenylalaninaemia and pregnancy.
Topics: Female; Fetal Blood; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis | 1979 |
Monkey retardate learning analysis.
Topics: Age Factors; Animals; Choice Behavior; Conditioning, Operant; Diet; Discrimination Learning; Disease Models, Animal; Frontal Lobe; Haplorhini; Humans; Inhibition, Psychological; Intellectual Disability; Macaca mulatta; Phenylalanine; Phenylketonurias | 1978 |
Effects of increasing Mg++ ion concentration on the PKU monitoring assay.
Topics: Bacillus subtilis; Humans; Magnesium; Phenylalanine; Phenylketonurias; Spores, Bacterial | 1979 |
Malignant hyperphenylalaninaemia--current status (June 1977).
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pteridines | 1978 |
The enzymes of the hepatic phenylalanine hydroxylating system.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Dihydropteridine Reductase; Humans; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1978 |
Phenylketonuria in Indian children.
Topics: Brain Chemistry; Child, Preschool; Female; Humans; India; Infant; Male; Phenylalanine; Phenylketonurias; Sphingolipids; Tyrosine | 1978 |
[Significance of early detection and early treatment of the development of children with phenylketonuria].
Topics: Child; Child Development; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1979 |
Ultrastructural changes in rat optic nerve associated with hyperphenylalaninemia induced by para-chlorophenylalanine and phenylalanine.
Topics: Animals; Astrocytes; Axons; Cytoplasm; Disease Models, Animal; Endoplasmic Reticulum; Fenclonine; Golgi Apparatus; Humans; Microscopy, Electron; Myelin Sheath; Nerve Degeneration; Oligodendroglia; Optic Nerve; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred F344; Sodium Chloride | 1975 |
[Studies on tryptophan metabolism in untreated phenylketonuric patients].
Topics: Acetophenones; Adolescent; Adult; Biotransformation; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Thin Layer; Female; Humans; Kynurenic Acid; Kynurenine; Male; Mass Spectrometry; Niacinamide; Nicotinic Acids; ortho-Aminobenzoates; Phenylalanine; Phenylketonurias; Quinolines; Tryptophan; Xanthurenates | 1975 |
Urinary metabolites of phenylalanine in the preweanling rat treated with p-chlorophenylalanine and phenylalanine.
Topics: Animals; Chromatography; Disease Models, Animal; Dose-Response Relationship, Drug; Female; Fenclonine; Hippurates; Humans; Lactation; Male; Molecular Conformation; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Rats | 1975 |
Biochemical effects of induced phenylketonuria in rats.
Topics: Amino Acids; Amniotic Fluid; Animals; Brain; Diet; Female; Fenclonine; Fetal Blood; Humans; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Serotonin; Tyrosine | 1975 |
Brain uptake and protein incorporation of amino acids studied in rats subjected to prolonged hyperphenylalaninaemia.
Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Female; Fenclonine; Glycine; Humans; Leucine; Lysine; Male; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Rats | 1975 |
Model phenylketonuria (PKU) in the albino rat: behaviroal, biochemical, and neuroanatomical effects.
Topics: Animals; Axons; Body Weight; Disease Models, Animal; Emotions; Fenclonine; Humans; Learning; Liver; Motor Activity; Myelin Sheath; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Social Behavior; Tryptophan | 1975 |
Protective effect of tryptophan and 5-hydroxytryptophan on experimental phenylketonuria induced with phenylalanine+ p-cholorophenylalanine in rats.
Topics: 5-Hydroxytryptophan; Animals; Behavior, Animal; Body Weight; Brain; Female; Fenclonine; Humans; Hydroxyindoleacetic Acid; Male; Motor Activity; Norepinephrine; Phenylalanine; Phenylketonurias; Rats; Serotonin; Tryptophan | 1975 |
The regulation of phenylalanine hydroxylase in rat tissues in vivo. The maintenance of high plasma phenylalanine concentrations in suckling rats: a model for phenylketonuria.
Topics: Animals; Brain; Disease Models, Animal; Fenclonine; Humans; Kidney; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 1976 |
Study of blood aminoacids in experimental hyperphenylalaninemia.
Topics: Amino Acids; Animals; Disease Models, Animal; Fenclonine; Humans; Male; Phenylalanine; Phenylketonurias; Rats; Sulfamethoxazole; Trimethoprim | 1977 |
Free amino acids in the tissues of rats with experimentally induced phenylketonuria.
Topics: Amino Acids; Animals; Brain; Brain Chemistry; Esculin; Fenclonine; Humans; Liver; Male; Phenylalanine; Phenylketonurias; Rats; Time Factors; Tyrosine | 1977 |
A new experimental model of hyperphenylalaninemia in rat. Effect of p-chlorophenylalanine and cotrimoxazole.
Topics: Animals; Disease Models, Animal; Drug Combinations; Fenclonine; Humans; Kidney; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Sulfamethoxazole; Trimethoprim; Tyrosine | 1977 |
Myelin deficiency in experimental phenylketonuria: contribution of the aromatic acid metabolites of phenylalanine.
Topics: Animals; Brain; Disease Models, Animal; Female; Fenclonine; Humans; Male; Membrane Lipids; Myelin Proteins; Myelin Sheath; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1978 |
Brain pyruvate kinase activity in PKU model systems.
Topics: Animals; Body Weight; Brain; Female; Fenclonine; Fetus; Humans; Organ Size; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvate Kinase; Rats; Tyrosine | 1979 |
Accumulation of a tetrahydroisoquinoline in phenylketonuria.
Topics: Adolescent; Animals; Brain; Child; Child, Preschool; Dopamine beta-Hydroxylase; Fenclonine; Humans; Papaverine; Phenylalanine; Phenylketonurias; Rats; Tetrahydropapaveroline | 1979 |
[Distribution of T and B lymphocytes in children's diseases. M. Down, phenylketonuria, celiac disease and other malabsorptions, malignant tumours, chronic otitis media, and infectious mononucleosis (author's transl)].
Topics: Age Factors; B-Lymphocytes; Celiac Disease; Child; Down Syndrome; Humans; Infectious Mononucleosis; Leukocyte Count; Malabsorption Syndromes; Neoplasms; Phenylalanine; Phenylketonurias; T-Lymphocytes | 1979 |
[Clinical and biochemical heterogenicity of phenylketonuria in adults].
Topics: Adolescent; Adult; Butyrylcholinesterase; Electron Transport Complex IV; Epilepsy; Female; Humans; Intelligence; Lipoproteins, LDL; Liver; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Psychopathology; Tyrosine | 1977 |
Experimental phenylketonuria: metabolic studies in rat liver.
Topics: Animals; Disease Models, Animal; Fasting; Female; Fenclonine; Fructosephosphates; Gluconeogenesis; Glucose; Glucosephosphates; Humans; Hydroxybutyrate Dehydrogenase; Ketone Bodies; L-Lactate Dehydrogenase; Liver; Malate Dehydrogenase; NAD; Phenylalanine; Phenylketonurias; Rats; Stereoisomerism | 1977 |
Imbalance in the activities of alkaline phosphatase and Na+-K+-ATPase in the brain of experimentally induced phenylketonuric squirrels (Funambulus palmarum).
Topics: Alkaline Phosphatase; Animals; Brain; Humans; Olfactory Bulb; Phenylalanine; Phenylketonurias; Sciuridae; Sodium-Potassium-Exchanging ATPase | 1978 |
Phenylketonuria--a mother's viewpoint.
Topics: Adaptation, Psychological; Adult; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Mothers; Phenylalanine; Phenylketonurias | 1977 |
Manual fluorometry of phenylalanine from blood specimens collected on filter paper: a modified procedure.
Topics: Blood Specimen Collection; Clinical Laboratory Techniques; Humans; Infant, Newborn; Mass Screening; Paper; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1979 |
[Neurological status and psychomotor development of children with phenylketonuria treated early].
Topics: Child; Child, Preschool; Female; Follow-Up Studies; Humans; Hyperkinesis; Infant; Infant, Newborn; Intellectual Disability; Male; Nervous System; Phenylalanine; Phenylketonurias; Psychomotor Agitation; Psychomotor Performance; Time Factors | 1979 |
Diet, genetics, and mental retardation interaction between phenylketonuric heterozygous mother and fetus to produce nonspecific diminution of IQ: evidence in support of the justification hypothesis.
Topics: Diet; Female; Heterozygote; Humans; Intelligence; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine; Wechsler Scales | 1978 |
[Phenylalanine-influenced retinal changes in the newborn rat (author's transl)].
Topics: Animals; Animals, Newborn; Disease Models, Animal; Ganglia; Humans; Phenylalanine; Phenylketonurias; Rats; Retina; Retinal Diseases | 1977 |
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
Topics: 5-Hydroxytryptophan; Ascorbic Acid; Consanguinity; Dopamine; Humans; Infant; Levodopa; Liver; Male; NADH, NADPH Oxidoreductases; Nervous System Diseases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin | 1979 |
[Metabolic disturbance of amino acids in peripheral lymphocytes from PKU (author's transl)].
Topics: Adult; Amino Acids; Cells, Cultured; Child; Child, Preschool; Female; Humans; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
A new variant form of phenylketonuria.
Topics: Adult; Child; Diseases in Twins; Drug Combinations; Drug Tolerance; Female; Humans; Intelligence; Male; Middle Aged; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sulfamethoxazole; Trimethoprim; Trimethoprim, Sulfamethoxazole Drug Combination; Tyrosine | 1979 |
[Heterozygote detection in phenylketonuria by means of an oral load of phenylalanine].
Topics: Administration, Oral; Female; Genetic Carrier Screening; Genetic Counseling; Genetic Techniques; Humans; Male; Mathematics; Pedigree; Phenylalanine; Phenylketonurias | 1979 |
Effect of aspartame loading upon plasma and erythrocyte amino acid levels in phenylketonuric heterozygotes and normal adult subjects.
Topics: Adult; Amino Acids; Aspartame; Aspartic Acid; Dipeptides; Erythrocytes; Female; Heterozygote; Humans; Male; Phenylalanine; Phenylketonurias | 1979 |
Intelligence and phenylketonuria: effects of diet termination.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias; Stanford-Binet Test; Time Factors | 1979 |
Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.
Topics: Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Female; Humans; Infant; Injections, Intravenous; Kinetics; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Delayed elevation of serum phenylalanine level in a breast-fed child.
Topics: Age Factors; Breast Feeding; Diagnosis, Differential; Female; Humans; Infant; Infant Food; Phenylalanine; Phenylketonurias | 1979 |
Management of maternal phenylketonuria: an emerging clinical problem.
Topics: Cephalometry; Female; Humans; Infant, Newborn; Intelligence; Mental Disorders; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1979 |
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.
Topics: Adolescent; Adult; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pterins | 1979 |
A clinical epidemiologic study of hyperphenylalaninemia.
Topics: Child, Preschool; Female; Humans; Intellectual Disability; Male; Ohio; Phenylalanine; Phenylketonurias; Regression Analysis; Retrospective Studies; Risk | 1979 |
[Principles of dietary treatment in phenylalanine metabolism disturbancies in pregnancy (author's transl].
Topics: Adolescent; Adult; Diet; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1979 |
[Maternal hyperphenylalaninemia as a cause of embryo-fetal disease. Review of literature and clinical contribution].
Topics: Abnormalities, Multiple; Female; Fetal Death; Fetal Diseases; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1979 |
Diagnosis and management of "malignant hyperphenylalaninemia".
Topics: Biopterins; Diagnosis, Differential; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 1979 |
The occurrence of gamma-glutamylphenylalanine in the urine of newborn phenylketonurics.
Topics: Creatinine; Dipeptides; Glutamine; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1979 |
Intellectual development and academic achievement of children treated early for phenylketonuria.
Topics: Achievement; Adolescent; Adult; Age Factors; Child; Child Development; Child, Preschool; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1979 |
Diagnosis of malignant hyperphenylalaninaemia.
Topics: Biopterins; Brain Diseases, Metabolic; Humans; Infant; Phenylalanine; Phenylketonurias; Xanthopterin | 1979 |
The effect of insulin on elder phenylketonuric patients.
Topics: Adolescent; Adult; Catecholamines; Female; Humans; Injections, Intramuscular; Insulin; Male; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1979 |
Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?
Topics: Female; Heterozygote; Humans; Intelligence; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Screening for PKU heterozygosity in bipolar affectively ill patients.
Topics: Bipolar Disorder; Female; Genetic Carrier Screening; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.
Topics: Biopterins; Chromatography, Thin Layer; Electrophoresis; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Xanthopterin | 1979 |
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Topics: Adolescent; Chemical Phenomena; Chemistry; Child; Child, Preschool; Chromatography, Affinity; Electrophoresis, Polyacrylamide Gel; Humans; Immunoelectrophoresis, Two-Dimensional; Infant, Newborn; Liver; Methods; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Relative inability of mother and child to convert phenylalanine of tyrosine--a possible cause of nonspecific mental retardation.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Heterozygote; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1979 |
Iatrogenic and transient hyperglycinemia in patients with phenylketonuria.
Topics: Glycine; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1979 |
Genetics and biochemistry of the phenylketonuria-present state.
Topics: Heterozygote; Humans; Liver; Molecular Weight; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Genetic screening of the newborn in Australia. Results for 1978.
Topics: Australia; Blood Stains; Congenital Hypothyroidism; Cystinuria; Female; Fetal Blood; Genetic Testing; Histidine; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1979 |
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Deuterium; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Isotope Labeling; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Linkage analysis using heterozygote detection in phenylketonuria.
Topics: Chromosome Mapping; Ethnicity; Female; Genetic Carrier Screening; Genetic Linkage; Heterozygote; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1979 |
[The validity of a screening test of heterozygotes for phenylketonuria].
Topics: Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Dietary restriction in inborn errors of amino acid metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
The dietary management of phenylketonuria.
Topics: Age Factors; Child; Child, Preschool; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1979 |
Treatment of phenylketonuria.
Topics: Adult; Child; Child Behavior Disorders; Dihydroxyphenylalanine; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Tryptophan | 1979 |
[Hyperphenylalaninemia induced by trimethoprim-sulfamethoxazole in an infant heterozygous for phenylketonuria].
Topics: Heterozygote; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Sulfamethoxazole; Trimethoprim | 1979 |
Maternal phenylketonuria: dietary treatment during pregnancy.
Topics: Adult; Child Development; Dietary Proteins; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Pregnancy Trimester, Second | 1979 |
["Transitory" phenylketonuria. A permanent deficit].
Topics: Biopterins; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Urinary phenylethylamine excretion: gas chromatographic assay with electron-capture detection of the pentafluorobenzoyl derivative.
Topics: Adult; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Phenethylamines; Phenylalanine; Phenylketonurias | 1979 |
Determination of phenylalanine in serum using reversed-phase liquid chromatography and fluorescence detection.
Topics: Chromatography, Liquid; Humans; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1979 |
[A program of EEG supervision for monitoring patients with anomalies in phenylalanine metabolism].
Topics: Child, Preschool; Electroencephalography; Humans; Infant; Phenylalanine; Phenylketonurias | 1979 |
Decreased foetal amino acid uptake, brain pyruvate kinase and intrauterine damage in maternal PKU.
Topics: Amino Acids; Animals; Brain; Female; Fetus; Hexokinase; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pyruvate Kinase; Rats; Succinate Dehydrogenase; Tryptophan; Tyrosine | 1977 |
[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Aromatic acid metabolites of phenylalanine in the brain of the hyperphenylalaninemic rat: effect of pyridoxamine.
Topics: Animals; Brain; Brain Chemistry; Drug Evaluation, Preclinical; Humans; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyridoxamine; Rats | 1977 |
Induced PKU in rats: effects of age and melatonin treatment.
Topics: Aging; Animals; Animals, Newborn; Behavior, Animal; Body Weight; Female; Humans; Learning; Melatonin; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Time Factors; Tyrosine | 1977 |
[Hypophenylalaninemia in dietary treatment of phenylketonuria (author's transl)].
Topics: Diet Therapy; Female; Humans; Iatrogenic Disease; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1978 |
Free amino acid pool in the brain of mice homozygous for the gene "dilute lethal".
Topics: Amino Acids; Animals; Brain; Genes, Lethal; Humans; Liver; Mice; Mutation; Phenylalanine; Phenylketonurias | 1977 |
Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes.
Topics: Ammonia-Lyases; Animals; Disease Models, Animal; Dogs; Enzymes, Immobilized; Extracorporeal Circulation; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias | 1978 |
Beneficial effect of isoleucine on fetal brain development in induced phenylketonuria.
Topics: Amino Acids; Animals; Body Weight; Brain; Disease Models, Animal; Female; Humans; Isoleucine; Organ Size; Phenylalanine; Phenylketonurias; Pregnancy; Rats | 1978 |
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats].
Topics: Animals; Dihydropteridine Reductase; Disease Models, Animal; Humans; Liver; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 1978 |
[Metabolism of amino acids and brain proteins in phenylketonuria].
Topics: Animals; Brain; Catecholamines; Chemical Phenomena; Chemistry; Glycolysis; Humans; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Pyridoxine; Serotonin; Tryptophan; Tyrosine | 1979 |
Experimental phenylketonuria: replacement of carboxyl terminal tyrosine by phenylalanine in infant rat brain tubulin.
Topics: Amino Acid Sequence; Animals; Brain; Cytoplasm; Disease Models, Animal; Humans; Microtubules; Phenylalanine; Phenylketonurias; Protein Binding; Rats; Tubulin; Tyrosine | 1979 |
Phenylketonuria masked by low protein feeds.
Topics: Animals; Diagnosis, Differential; Dietary Proteins; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Milk; Phenylalanine; Phenylketonurias | 1977 |
Long term studies of untreated phenylketonuria II: the plasma phenylalanine level.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Intelligence; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1978 |
[Theory in Guthrie's method].
Topics: Humans; Phenylalanine; Phenylketonurias | 1977 |
[Method of Guthrie's test].
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1977 |
[Studies of blood phenylalanine in oligophrenic adults and severely mentally retarded children].
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Humans; Intellectual Disability; Italy; Middle Aged; Phenylalanine; Phenylketonurias | 1977 |
[Hyperphenylalaninemia during pregnancy].
Topics: Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1977 |
Collaborative study of children treated for phenylketonuria: study design.
Topics: Child; Child, Preschool; Dietary Proteins; Energy Intake; Female; Humans; Infant; Intelligence; Male; Monitoring, Physiologic; Phenylalanine; Phenylketonurias | 1977 |
Intellectual assessment of 111 four-year-old children with phenylketonuria.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias; Sex Factors; Stanford-Binet Test | 1977 |
Anatomy of a trial.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intelligence Tests; Phenylalanine; Phenylketonurias; Pregnancy; Stanford-Binet Test | 1977 |
Serum tyrosine within the first hour after an oral load of phenylalanine.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Humans; Infant; Male; Middle Aged; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
[Studies on the influence of blood phenylalanine level on plasma aminogram in PKU patients (author's transl)].
Topics: Age Factors; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1977 |
Results of phenylalanine tolerance tests and EEG examination in patients under treatment for phenylketonuria.
Topics: Adult; Child; Diagnosis, Differential; Electroencephalography; Heterozygote; Humans; Phenylalanine; Phenylketonurias | 1977 |
Determination of phenylalanine in serum by a modified fluorimetric method in the diagnosis of phenylketonuria.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1977 |
Contribution to the problems of determining heterozygotes in phenylketonuria by the biochemical and electroencephalographic method.
Topics: Adult; Electroencephalography; Female; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1977 |
The uri nary excretion of 2-phenylethylamine in phenylketonuria.
Topics: Adult; Child; Female; Humans; Male; Mass Spectrometry; Phenethylamines; Phenylalanine; Phenylketonurias | 1978 |
Congenital and neurological abnormalities in infants with phenylketonuria.
Topics: Abnormalities, Multiple; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pyloric Stenosis; United States | 1978 |
The labelling of urinary acids after oral doses of deuterated L-phenylalanine and L-tyrosine in normal subjects. Quantitative studies with implications for the deuterated phenylalanine load test in phenylketonuria.
Topics: Acids; Adult; Amino Acids; Deuterium; Female; Humans; Male; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1978 |
Methods of dietary inception in infants with PKU.
Topics: Dietary Proteins; Dietetics; Health Education; Humans; Infant; Infant Care; Methods; Nursing Care; Nutritional Physiological Phenomena; Parents; Patient Care Team; Phenylalanine; Phenylketonurias; Physicians | 1978 |
In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics.
Topics: Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1978 |
Protein-induced hypoglycemia in a phenylketonuric patient.
Topics: Adolescent; Female; Humans; Hypoglycemia; Phenylalanine; Phenylketonurias | 1978 |
What to do with the Guthrie test report.
Topics: Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1978 |
[Differentiation of hyperphenylalaninemia by means of dietary loading].
Topics: Adolescent; Child; Child, Preschool; Diagnosis, Differential; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1978 |
Urinary excretion of aromatic acids in hyperphenylalaninemic states: response to a protein challenge.
Topics: Adolescent; Child; Child, Preschool; Dietary Proteins; Female; Humans; Infant; Male; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors | 1978 |
[Problems and results of screening tests in genetic disorders].
Topics: Cystic Fibrosis; Galactosemias; Genetic Diseases, Inborn; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pilot Projects; Risk | 1978 |
Phenylketonuria heterozygote detection in families with affected children.
Topics: Ethnicity; Female; Genetic Counseling; Heterozygote; Humans; Indiana; Male; Michigan; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Selection, Genetic; Sex Factors; Tryptophan; Tyrosine | 1978 |
[Cutaneous dyschromia in three cases of phenylketonuria. Quantitative ultrastructural study of the basal layer of the epidermis (author's transl)].
Topics: Child; Epidermis; Erythema; Female; Hair Color; Humans; Keratins; Male; Melanins; Phenylalanine; Phenylketonurias; Pigmentation Disorders; Tyrosine | 1978 |
Phenylketonuria and scleroderma.
Topics: Child; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Scleroderma, Localized; Tryptophan | 1978 |
Diet termination for PKU: Yes or no?
Topics: Child; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Time Factors | 1978 |
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
Topics: Administration, Oral; Biopterins; Child, Preschool; Dihydropteridine Reductase; Humans; Infant; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines; Tetrahydrofolate Dehydrogenase | 1978 |
Something's new in PKU.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 1978 |
[Early case finding of phenylketonuria in the Netherlands during the period of 1 September 1974-31 December 1976. Report of the Rural Advisory Committee on Phenylketonuria].
Topics: Humans; Infant, Newborn; Mass Screening; Netherlands; Phenylalanine; Phenylketonurias; Rural Population | 1978 |
Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Humans; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias; Time Factors | 1978 |
[Experience with diagnosing phenylalanine metabolism prior to marriage (author's transl)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Czechoslovakia; Eugenics; Female; Genetic Counseling; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias | 1978 |
Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading.
Topics: Genetic Carrier Screening; Heterozygote; Humans; Lactates; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1978 |
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.
Topics: Biopterins; Female; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines | 1978 |
Variability of reproductive casualty in maternal phenylalaninemia.
Topics: Abortion, Therapeutic; Birth Weight; Congenital Abnormalities; Female; Fetal Death; Humans; Intellectual Disability; Intelligence; Male; Parents; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Risk | 1978 |
In vivo determination of phenylalanine hydroxylase activity using heptadeutero-phenylalanine and comparison to the in vitro assay values.
Topics: Deuterium; Diagnosis, Differential; Humans; Methods; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1978 |
Phenylketonuria (PKU) in Israel.
Topics: Female; Humans; Intelligence; Israel; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1978 |
Rare diseases, common problems: recognition and management.
Topics: Female; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Problem Solving; Sleep Stages; Vomiting | 1978 |
[Possible explanation of the high degree of IQ variability in subjects with classical phenylketonuria].
Topics: Brain; Genotype; Humans; Hydroxylation; Intelligence; Phenylalanine; Phenylketonurias | 1978 |
[Results after 5 years of early treated phenyketonuria. Correlations with the quality of dietetic control].
Topics: Age Factors; Child Development; Female; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Sex Factors; Time Factors | 1978 |
[Phenylketonuria and mental development: a badly stated problem].
Topics: Age Factors; Child Development; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intelligence Tests; Phenylalanine; Phenylketonurias; Time Factors | 1978 |
Protein deficiency in PKU.
Topics: Adult; Biopterins; Child; Humans; Liver; Phenylalanine; Phenylketonurias; Pteridines | 1979 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glutathione; Glycine; Glycogen Storage Disease Type II; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nerve Tissue Proteins; Nervous System Diseases; Phenylalanine; Phenylketonurias | 1976 |
[The traps of Guthrie's test].
Topics: Age Factors; Bacillus subtilis; Birth Weight; Blood Bactericidal Activity; False Positive Reactions; Gestational Age; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Premature; Mass Screening; Metabolism; Milk Proteins; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1976 |
Nutrient intake of treated infants with phenylketonuria.
Topics: Body Height; Body Weight; Calcium, Dietary; Diet; Dietary Proteins; Energy Metabolism; Female; Humans; Infant; Infant, Newborn; Iron; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias; Phosphorus; Vitamins | 1977 |
Heterozygote detection in phenylketonuria.
Topics: Child, Preschool; Female; Heterozygote; Humans; Infant; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1977 |
[Phenylalanine metabolites in the urine after oral phenylalanine loading. Significance for the discrimination between classical phenylketonuria and variations of hyperphenylalaninemia (heterozygotes and homozygotes)].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genetic Variation; Heterozygote; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1977 |
Discontinuing the phenylalamine-restricted diet in young children with PKY. Psychosocial aspects.
Topics: Attitude to Health; Child, Preschool; Diet Therapy; Emotions; Humans; Infant; Infant, Newborn; Parent-Child Relations; Phenylalanine; Phenylketonurias; Social Behavior; Surveys and Questionnaires | 1977 |
Fasting serum phenylalanine in untreated institutionalised patients with phenylketonuria.
Topics: Adolescent; Adult; Age Factors; Aged; Diet Therapy; Dietary Proteins; Fasting; Female; Hospitalization; Humans; Intellectual Disability; Intelligence; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1977 |
[Optimization of metabolic adjustment in phenylketonuria].
Topics: Child; Humans; Phenylalanine; Phenylketonurias | 1977 |
On indications for treatment of the hyperphenylalaninemic neonate.
Topics: Denmark; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Different phenotypes for phenylalanine hydroxylase deficiency.
Topics: Adult; Child, Preschool; Diet; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1977 |
[Results of a prolonged phenylalanine load].
Topics: Body Weight; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Time Factors | 1977 |
Phenylketonuria: a new method for the simultaneous determination of plasma phenylalanine and tyrosine.
Topics: Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rhodotorula; Tyrosine | 1977 |
Nutritional management of the female with phenylketonuria during pregnancy.
Topics: Amino Acids, Essential; Birth Weight; Congenital Abnormalities; Female; Humans; Menu Planning; Microcephaly; Nutritional Requirements; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1977 |
The formation of meta-hydroxyphenylacetic acid through a direct ring hydroxylation reaction in humans.
Topics: Adult; Child; Deuterium; Humans; Kinetics; Mass Spectrometry; Phenylacetates; Phenylalanine; Phenylketonurias | 1977 |
Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.
Topics: Amino Acid Metabolism, Inborn Errors; Electrophoresis; Humans; Methotrexate; Phenylalanine; Phenylketonurias; Pterins; Xanthine Oxidase; Xanthopterin | 1977 |
Rapid and quantitative blood amino acid analysis by chemical ionization mass spectrometry.
Topics: Amino Acids; Humans; Infant, Newborn; Mass Spectrometry; Phenylalanine; Phenylketonurias | 1977 |
[A mother with hyperphenylalaninemia and development of the fetus during a diet in pregnancy].
Topics: Female; Humans; Infant, Newborn; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1977 |
Detection of heterozygotes for phenylketonuria. Total body phenylalanine clearance and concentrations of phenylalanine and tyrosine in the plasms of fasting subjects compared.
Topics: Adult; Contraceptives, Oral; Fasting; Female; Heterozygote; Homozygote; Humans; Kinetics; Male; Mathematics; Middle Aged; Phenylalanine; Phenylketonurias; Sex Factors; Tyrosine | 1977 |
Detection of heterozygotes for phenylketonuria by constant intravenous infusion of L-phenylalanine.
Topics: Adult; Child; Female; Heterozygote; Humans; Kinetics; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1977 |
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Histidine; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1977 |
Clinical experience in dietary management of phenylketonuria with a new phenylalanine-free product.
Topics: Adolescent; Child; Child, Preschool; Diet Therapy; Female; Food; Food, Formulated; Humans; Intelligence; Male; Mental Processes; Phenylalanine; Phenylketonurias | 1977 |
[The IQ of heterozygotes for phenylketonuria (PKU). indication of a blood phenylalanine-independent action of the PKU mutant (author's transl)].
Topics: Adult; Child; Female; Heterozygote; Histidine; Humans; Intelligence; Male; Mutation; Phenylalanine; Phenylketonurias; Wechsler Scales | 1977 |
[Determination of phenylalanine hydroxylase in patients with phenylketonuria and hyperphenylalaninemia].
Topics: Adolescent; Female; Humans; Infant; Liver; Male; Methods; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1976 |
Effects of rapid increase of phenylalanine intake in older PKU children.
Topics: Adolescent; Body Height; Body Weight; Child; Child Behavior; Child, Preschool; Dietary Proteins; Follow-Up Studies; Humans; Intelligence Tests; Phenylalanine; Phenylketonurias; Physical Exertion | 1976 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
The effects of phenylketonuric and other metabolites on sulfated galactocerebroside synthesis in vivo and in culture.
Topics: Animals; Brain; Carbon Dioxide; Culture Techniques; Humans; Lactates; Mice; Myelin Sheath; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Spinal Cord; Sulfoglycosphingolipids | 1976 |
[Comparison of the phenylalanine determination by ion exchange column chromatography and the guthrietest in treated phenylketonuric children (author's transl)].
Topics: Child; Child, Preschool; Chromatography, Ion Exchange; Female; Humans; Infant; Male; Methods; Phenylalanine; Phenylketonurias | 1976 |
Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats.
Topics: Amino Acids; Animals; Animals, Newborn; Disease Models, Animal; Humans; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats | 1976 |
Management of phenylketonuria: South Australian experience of 13 cases.
Topics: Australia; Child; Child, Preschool; Dietary Fats; Female; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias | 1976 |
Phenylketonuria variants in Ontario.
Topics: Adult; Female; Humans; Infant, Newborn; Intelligence; Mass Screening; Ontario; Phenylalanine; Phenylketonurias | 1976 |
Hyperphenylalaninemias and tyrosinemias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1976 |
[Development of children with late treatment of phenylketonuria following diet therapy].
Topics: Age Factors; Child; Child Development; Electroencephalography; Humans; Phenylalanine; Phenylketonurias; Time Factors | 1976 |
Blood phenylalanine levels in mentally retarded African children: a study of 138 patients from Ibadan, Nigeria.
Topics: Black People; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Nigeria; Phenylalanine; Phenylketonurias | 1976 |
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
Topics: Adult; Amniotic Fluid; Cells, Cultured; Dihydropteridine Reductase; Epilepsy; Female; Fibroblasts; Humans; In Vitro Techniques; Infant; Infant, Newborn; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1976 |
Maternal hyperphenylalaninemia: an experimental model in rats.
Topics: Animals; Animals, Newborn; Birth Weight; Brain Chemistry; Disease Models, Animal; Female; Fetal Blood; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Placenta; Pregnancy; Pregnancy Complications; Rats; Rats, Inbred F344; Time Factors | 1976 |
Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease.
Topics: Age Factors; Animals; Brain; Humans; Hydroxybutyrates; Male; Maple Syrup Urine Disease; Mitochondria; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Rats | 1976 |
Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria.
Topics: Amino Acids; Animals; Brain Chemistry; Dose-Response Relationship, Drug; Drug Combinations; Humans; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine | 1976 |
[In-vivo studies on the activation possibility of the phenylalanine hydroxylase system in hyperphenylalaninemia through treatment with pterins].
Topics: Animals; Enzyme Activation; Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; Rats | 1976 |
The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates.
Topics: Adolescent; Adult; Aged; Child; Hospitals, Special; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Middle Aged; Phenylalanine; Phenylketonurias; Sweden | 1976 |
[Urinary phenylalanine metabolites in hyperphenylalaninemia (author's transl)].
Topics: Humans; Lactates; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1976 |
[Blood insulin following oral glucose and L-phenylalanine administration in children with phenylketonuria].
Topics: Age Factors; Child, Preschool; Glucose; Humans; Infant; Insulin; Phenylalanine; Phenylketonurias | 1976 |
Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child, Preschool; Chromatography, Thin Layer; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines; Tryptophan; Tyrosine | 1976 |
Diagnostic considerations in phenylalaninemic subjects before and after dietary therapy.
Topics: Humans; Methods; Phenylalanine; Phenylketonurias | 1976 |
Results of loading doses of aspartame by two phenylketonuric (PKU) children compared with two normal children.
Topics: Adolescent; Aspartame; Child; Dipeptides; Female; Glutamine; Humans; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1976 |
[Obstetrical problems of phenylketonuria].
Topics: Adult; Female; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Diagnosis | 1976 |
[Gathrie's method of mass screening for inborn metabolic errors (author's transl)].
Topics: Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1976 |
[Clinical diagnosis of hyperphenylalaninemia in the newborn infant and infant stages].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1976 |
Phenylketonuria.
Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
Progeny, pregnancy and phenylketonuria.
Topics: Adolescent; Adult; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Myocardium; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
Evidence that monoamines influence human evoked potentials.
Topics: 5-Hydroxytryptophan; Adolescent; Biogenic Amines; Dihydroxyphenylalanine; Evoked Potentials; Female; Humans; Male; Phenylalanine; Phenylketonurias; Reaction Time; Tyrosine; Visual Cortex; Visual Perception | 1975 |
Letter: Hazards in indiscriminate use of sweeteners containing phenylalanine.
Topics: Aspartic Acid; Diet; Dipeptides; Female; Fetus; Heterozygote; Homozygote; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Sweetening Agents | 1975 |
Letter: Safety of aspartame as a sweetener.
Topics: Aspartic Acid; Dipeptides; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Sweetening Agents | 1975 |
Detection of heterozygotes for phenylketonuria and hyperphenylaianinemia by gas-chromatographic analysis of aromatic acid excretion in urine.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Female; Heterozygote; Humans; Male; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1975 |
Frequency of phenylketonuria in Norway.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Consanguinity; Female; Genetics, Population; Homozygote; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Norway; Pedigree; Phenylalanine; Phenylketonurias; Sex Ratio | 1975 |
Gas-liquid chromatography of phenylalanine and its metabolites in serum and urine of various hyperphenylalaninemic subjects, their relatives, and controls.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Lactates; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1975 |
[Phenylalanine hydroxylase activity in the liver as a parameter for distinguishing various forms of hyperphenylalaninemias (author's transl)].
Topics: Adolescent; Adult; Amines; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1975 |
Classic phenylketonuria: diagnosis through heterozygote detection.
Topics: Adolescent; Adult; Chromatography, Ion Exchange; Consanguinity; Female; Genetic Counseling; Genotype; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Phenotype; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1975 |
Latrogenesis imperfecta--a new pediatric problem.
Topics: Amniotic Fluid; Clinical Laboratory Techniques; Cushing Syndrome; Diagnostic Errors; Disease; False Positive Reactions; Female; Health; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Pregnancy | 1975 |
[Pregnancy hyperphenylalanemia and its diagnostic importance (author's transl)].
Topics: Female; Humans; Infant, Newborn; Intelligence Tests; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
[Relationship of urinary phenylpyruvate and o-hydroxyphenylacetate on serum phenylalanine level in patients with phenylketonuria treated by diet].
Topics: Child; Child, Preschool; Humans; Infant; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1975 |
[Mother with phenylketonuria and foetal development].
Topics: Female; Fetus; Growth; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
A comparison of effectiveness of screening for phenylketonuria in the United States, United Kingdom and Ireland.
Topics: Age Factors; Efficiency; False Negative Reactions; Follow-Up Studies; Health Planning; Humans; Infant, Newborn; Ireland; Phenylalanine; Phenylketonurias; Statistics as Topic; United Kingdom; United States | 1975 |
A novel method for the gas chromatographic determination of phenylalanine in serum.
Topics: Chromatography, Gas; Glycine; Humans; Methods; Oxazoles; Phenylalanine; Phenylketonurias | 1975 |
Results of the examination of newborn infants for phenylketonuria and histidinemia in Moscow.
Topics: Child Health Services; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Moscow; Phenylalanine; Phenylketonurias | 1975 |
[Regional center for the screening of phenylketonuria. Results from the 11-1-72 to 12-31-74].
Topics: Autoanalysis; Diagnostic Services; France; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1975 |
Letter: Phenylalaninaemia.
Topics: Child, Preschool; Female; Humans; Infant; Phenylalanine; Phenylketonurias | 1975 |
Prospects for a pharmacological treatment of phenylketonuria.
Topics: Anabolic Agents; Child; Child, Preschool; Female; Humans; Male; Phenylalanine; Phenylketonurias; Stanozolol; Tyrosine | 1975 |
Phenylketonuria in a patient with cystinuria.
Topics: Adolescent; Amino Acids; Cystine; Cystinuria; Genes, Recessive; Heterozygote; Homozygote; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias | 1975 |
[Chromatography of urinary phenolic acids: ortho-hydroxyphenylacetic acid in the diagnosis of phenylketonuria].
Topics: Child; Chromatography, Paper; Humans; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1975 |
Permanent chemical phenylketonuria and a normal phenylalanine tolerance in two sisters with a normal mental development.
Topics: Adolescent; Adult; Benzoates; Child; Creatinine; Female; Humans; Lactates; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1975 |
Prevention of mental retardation due to PKU: selected aspects of program validity.
Topics: Child Health Services; Comprehensive Health Care; Diet Therapy; Evaluation Studies as Topic; False Negative Reactions; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Risk; Time Factors; United States | 1975 |
Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage.
Topics: Abortion, Spontaneous; Birth Weight; Female; Fetal Death; Gene Frequency; Heterozygote; Humans; Ireland; Mutation; Nutritional Physiological Phenomena; Parity; Phenylalanine; Phenylketonurias; Polymorphism, Genetic; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Scotland; Zygote | 1975 |
[Metabolic management and therapeutic results in patients with phenylketonuria].
Topics: Age Factors; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1975 |
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
Topics: Adolescent; Adult; Aged; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Liver; Lysophosphatidylcholines; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1975 |
Studies on the experimental phenylketonuria in rats.
Topics: Amino Acids; Animals; Brain Chemistry; Female; Homogentisic Acid; Humans; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Transaminases; Tyrosine | 1975 |
[The relationship between hyperphenylalaninemia and mental retardation].
Topics: Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Mental Disorders; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1975 |
Comparison of an amino acid mixture and protein hydrolysates in treatment of infants with phenylketonuria.
Topics: Alkaline Phosphatase; Amino Acids; Birth Weight; Body Height; Body Weight; Calcium; Cephalometry; Humans; Infant; Infant, Newborn; Magnesium; Mother-Child Relations; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1975 |
[Phenylalanine tolerance and results of oral phenylalanine load in children with phenylketonuria in various ages].
Topics: Age Factors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Time Factors | 1975 |
[Treatment of phenylketonuria from the psychopatological aspect (preliminary study) (author's transl)].
Topics: Adolescent; Affective Symptoms; Child; Child, Preschool; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Psychomotor Disorders | 1975 |
Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1975 |
[Study of blood amino acids during a phenylalanine loading test].
Topics: Administration, Oral; Amino Acids; Humans; Intestinal Absorption; Phenylalanine; Phenylketonurias | 1975 |
[Problem of maternal phenylketonuria].
Topics: Female; Fetal Diseases; Fetus; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
Statistical evaluation of a new method to detect carriers of phenylketonuria.
Topics: Evaluation Studies as Topic; Heterozygote; Humans; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Statistics as Topic | 1975 |
A study of urinary tryptophan metabolites in relation to the phenylalanine content of semi-synthetic diets in a patient with phenylketonuria.
Topics: Adult; Diet; Humans; Male; Phenylalanine; Phenylketonurias; Tryptophan | 1975 |
Behavioral and biochemical correlates of diet change in phenylketonuria.
Topics: Adolescent; Child; Child Behavior; Child, Institutionalized; Diet; Discrimination, Psychological; Female; Humans; Male; Phenothiazines; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1976 |
[Protein tolerance test in the differential diagnosis of inborn errors amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Dietary Proteins; Humans; Infant; Phenylalanine; Phenylketonurias; Proteins | 1976 |
Effect of cotrimoxazole on the response to phenylalanine loading in man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Drug Combinations; Female; Glomerular Filtration Rate; Heterozygote; Humans; Kidney; Male; Middle Aged; Phenylalanine; Phenylketonurias; Sulfamethoxazole; Time Factors; Trimethoprim; Tyrosine; Urine | 1976 |
Treatment of children with phenylketonuria using a phenylalanine-free protein hydrolysate (Albumaid XP).
Topics: Amino Acids; Body Height; Body Weight; Child Development; Child, Preschool; Energy Metabolism; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1976 |
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child, Preschool; Dihydropteridine Reductase; DNA Mutational Analysis; Erythrocytes; Female; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Pterins; Skin | 1992 |
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Topics: Child; DNA Mutational Analysis; Humans; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; DNA; Exons; Female; Genetic Testing; Haplotypes; Humans; Infant, Newborn; Kinetics; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Sweden | 1992 |
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
Topics: Base Sequence; DNA; DNA Mutational Analysis; Ethnicity; Female; Genotype; Humans; Israel; Male; Molecular Sequence Data; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; RNA Splicing | 1992 |
PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.
Topics: Adolescent; Adult; Base Sequence; Child; Child, Preschool; DNA Restriction Enzymes; Exons; Female; Gene Frequency; Haplotypes; Humans; Infant; Male; Molecular Sequence Data; Norway; Pedigree; Phenotype; Phenylalanine; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Genetic | 1992 |
Neurological outcome in 22 treated adolescents with hyperphenylalaninemia. A clinical and electrophysiological study.
Topics: Adolescent; Adult; Brain Stem; Cerebral Cortex; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Evoked Potentials, Visual; Female; Humans; Male; Motor Neurons; Neurologic Examination; Peroneal Nerve; Phenylalanine; Phenylketonurias; Reaction Time; Sural Nerve; Synaptic Transmission | 1992 |
Destructive effect of prolonged autoclaving of blood specimens in Guthrie test.
Topics: False Negative Reactions; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1992 |
Molecular basis for nonphenylketonuria hyperphenylalaninemia.
Topics: Base Sequence; Exons; Female; Haplotypes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Oligonucleotide Probes; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Tyrosine | 1992 |
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.
Topics: Biopterins; Chromatography, High Pressure Liquid; Diagnosis, Differential; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Manganese; Manganese Compounds; Neonatal Screening; Oxides; Paper; Phenylalanine; Phenylketonurias; Pterins | 1992 |
Statistical properties of the Michaelis-Menten equation and their implication for inborn errors of metabolism.
Topics: Computers; Humans; Hydroxylation; Kinetics; Mathematics; Models, Biological; Monte Carlo Method; Phenylalanine; Phenylketonurias | 1992 |
Serum selenium levels in individuals on PKU diets.
Topics: Adolescent; Adult; Child; Diet; Female; Food, Formulated; Humans; Male; Phenylalanine; Phenylketonurias; Selenium | 1992 |
Late diagnosis of phenylketonuria in a Bedouin mother.
Topics: Abortion, Habitual; Adult; Child, Preschool; Female; Fetal Diseases; Heart Defects, Congenital; Humans; Infant; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1992 |
Enzymatic method for phenylketonuria screening using phenylalanine dehydrogenase.
Topics: Amino Acid Oxidoreductases; False Positive Reactions; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Reproducibility of Results | 1992 |
Bone mineral status in children with phenylketonuria--relationship to nutritional intake and phenylalanine control.
Topics: Adolescent; Adult; Age Factors; Bone Density; Calcium; Child; Child, Preschool; Copper; Energy Intake; Erythrocytes; Female; Humans; Infant; Magnesium; Male; Minerals; Parathyroid Hormone; Patient Compliance; Phenylalanine; Phenylketonurias; Phosphates; Zinc | 1992 |
Newborn screening for phenylketonuria: thirty years of progress.
Topics: Adolescent; Adult; Child; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant, Newborn; Intelligence Tests; Neonatal Screening; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pterins; Tyrosine | 1992 |
Changing of critical variables in the fluorometric microplate-based method for phenylketonuria screening.
Topics: Fluorometry; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias | 1992 |
A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Kidney; Lactates; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1992 |
Prolactin responses to phenylalanine and tyrosine in phenylketonuria.
Topics: Adolescent; Adult; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prolactin; Reference Values; Tyrosine | 1992 |
The use of a low phenylalanine diet with amino acid supplement in the treatment of behavioural problems in a severely mentally retarded adult female with phenylketonuria.
Topics: Adult; Amino Acids; Dietary Proteins; Female; Food, Fortified; Hospitalization; Humans; Intellectual Disability; Personality Assessment; Phenylalanine; Phenylketonurias; Social Behavior | 1992 |
Spasticity and white matter abnormalities in adult phenylketonuria.
Topics: Adult; Brain; DNA Probes; Haplotypes; Homozygote; Humans; Magnetic Resonance Imaging; Male; Muscle Spasticity; Neurologic Examination; Patient Compliance; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1992 |
Lateralized deficits in visual attention in males with developmental dopamine depletion.
Topics: Attention; Child; Dominance, Cerebral; Dopamine; Female; Humans; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reaction Time; Sex Factors; Visual Perception | 1992 |
After a positive Guthrie--what next? Dietary management for the child with phenylketonuria.
Topics: Adolescent; Adult; Age Factors; Bottle Feeding; Brain; Breast Feeding; Child; Child, Preschool; Costs and Cost Analysis; Humans; Infant; Infant Food; Infant, Newborn; Phenylalanine; Phenylketonurias; Weaning | 1992 |
Study of the relationship between estimates of enzyme kinetic parameters.
Topics: Enzymes; Humans; Kinetics; Mathematics; Models, Chemical; Phenylalanine; Phenylketonurias | 1992 |
A treatment program for adolescents with phenylketonuria.
Topics: Adolescent; Adult; Child; Evaluation Studies as Topic; Female; Health Knowledge, Attitudes, Practice; Humans; Internal-External Control; Male; Patient Compliance; Patient Education as Topic; Phenylalanine; Phenylketonurias; Pilot Projects; Reward | 1992 |
Maternal phenylketonuria.
Topics: Child; Child, Preschool; Developmental Disabilities; Diseases in Twins; Female; Humans; Infant; Intellectual Disability; Intelligence; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy | 1990 |
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Topics: Administration, Oral; Alcohol Oxidoreductases; Biopterins; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases | 1991 |
Maternal PKU collaborative study: the effect of nutrient intake on pregnancy outcome.
Topics: Adult; Body Weight; Dietary Proteins; Energy Intake; Female; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prospective Studies; Regression Analysis; Tyrosine | 1991 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
Content of phenylalanine, tyrosine and their metabolites in CSF in phenylketonuria.
Topics: Child, Preschool; Chromatography, Ion Exchange; Gas Chromatography-Mass Spectrometry; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
Agoraphobia in phenylketonuria.
Topics: Adult; Agoraphobia; Female; Humans; Intellectual Disability; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias | 1991 |
Bony changes of PKU neonates unrelated to phenylalanine levels.
Topics: Bone and Bones; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Radiography; Regression Analysis | 1991 |
Enzymatic phenylalanine estimation for the management of patients with phenylketonuria.
Topics: Amino Acid Oxidoreductases; Clinical Enzyme Tests; Humans; Phenylalanine; Phenylketonurias; Photometry | 1991 |
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.
Topics: Adolescent; Adult; Discriminant Analysis; Female; Gene Frequency; Genetic Carrier Screening; Humans; Male; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence; Turkey; Tyrosine | 1991 |
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Europe; Female; Genetic Carrier Screening; Haplotypes; Humans; Infant, Newborn; Israel; Male; Mutation; Pedigree; Phenylalanine; Phenylketonurias; Polymerase Chain Reaction | 1991 |
Plasma amino acids in adolescents and adults with phenylketonuria on three different levels of protein intake.
Topics: Adolescent; Adult; Age Factors; Amino Acids, Essential; Dietary Proteins; Humans; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1991 |
Simultaneous determination of urinary creatinine and aromatic amino acids by cation-exchange chromatography with ultraviolet detection.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cations; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Creatinine; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1991 |
Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.
Topics: Belgium; Biopterins; Czechoslovakia; Diagnosis, Differential; Dihydropteridine Reductase; France; Humans; Infant, Newborn; Liver; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portugal; Prospective Studies; Pteridines; Retrospective Studies | 1991 |
Phenylketonuria and anorexia nervosa.
Topics: Adult; Anorexia Nervosa; Body Image; Body Weight; Epilepsies, Partial; Feeding Behavior; Female; Humans; Intellectual Disability; Patient Compliance; Phenylalanine; Phenylketonurias; Social Behavior Disorders | 1991 |
The natural history of untreated phenylketonuria over 20 years.
Topics: Activities of Daily Living; Adult; Aged; Epilepsy, Tonic-Clonic; Female; Follow-Up Studies; Health Status; Humans; Intellectual Disability; Male; Middle Aged; Muscle Spasticity; Phenylalanine; Phenylketonurias | 1991 |
Correlation between cerebrospinal fluid phenylalanine and beta-endorphin in patients with phenylketonuria.
Topics: Adolescent; Adult; beta-Endorphin; Humans; Phenylalanine; Phenylketonurias | 1991 |
Management of inborn errors of metabolism during pregnancy.
Topics: Birth Weight; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Patient Compliance; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Scotland | 1991 |
Children with phenylketonuria: the interface of family and child functioning.
Topics: Child; Child Behavior Disorders; Child, Preschool; Family; Female; Follow-Up Studies; Humans; Intelligence; Male; Parent-Child Relations; Patient Compliance; Personality Development; Phenylalanine; Phenylketonurias; Problem Solving; Sick Role | 1991 |
Neurological deterioration in young adults with phenylketonuria.
Topics: Adult; Brain; Brain Diseases; Female; Humans; Magnetic Resonance Imaging; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies; Time Factors | 1990 |
Genetic analysis of treated and untreated phenylketonuria in one family.
Topics: Adolescent; Aged; DNA Mutational Analysis; Female; Haplotypes; Humans; Infant; Male; Mutation; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length; Tyrosine | 1990 |
Status report on phenylketonuria treatment: 1990.
Topics: Child; Humans; Phenylalanine; Phenylketonurias; Research Design | 1991 |
Detection of phenylketonuria in the very early newborn blood specimen.
Topics: Bottle Feeding; Breast Feeding; Colostrum; Humans; Infant, Newborn; Mass Screening; Patient Discharge; Phenylalanine; Phenylketonurias; Prospective Studies; Risk Factors; Time Factors | 1991 |
Molecular basis of phenotypic heterogeneity in phenylketonuria.
Topics: Alleles; Denmark; Gene Expression Regulation, Enzymologic; Germany; Humans; Mutation; Nucleic Acid Hybridization; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1991 |
Paternal phenylketonuria.
Topics: Benzene Derivatives; Child; Congenital Abnormalities; Fathers; Humans; Ketones; Male; Phenylalanine; Phenylketonurias; Wechsler Scales | 1991 |
Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria.
Topics: Adolescent; Age Factors; Child; Cohort Studies; Dietary Proteins; Humans; Intelligence; Phenylalanine; Phenylketonurias; Prospective Studies; Regression Analysis | 1991 |
Rapid determination of phenylalanine in plasma by capillary high-performance liquid chromatography with electrochemical detection.
Topics: Chromatography, High Pressure Liquid; Electrochemistry; Humans; Indicators and Reagents; Phenylalanine; Phenylketonurias | 1991 |
7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase.
Topics: Animals; Biopterins; Hydrogen Peroxide; Hydroxylation; Kinetics; Liver; NAD; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 1991 |
Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia.
Topics: Acute Disease; Adult; Biopterins; Chronic Disease; Erythrocytes; Humans; Phenylalanine; Phenylketonurias; Plasma; Reference Values | 1990 |
Neuropsychology of early-treated phenylketonuria: specific executive function deficits.
Topics: Child, Preschool; Cognition Disorders; Female; Follow-Up Studies; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1990 |
Six-year follow up of phenylalanine intakes and plasma phenylalanine concentrations.
Topics: Aging; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Patient Compliance; Phenylalanine; Phenylketonurias | 1990 |
Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psycho-intellectual outcome in patients with PKU.
Topics: Aging; Humans; Infant, Newborn; Intelligence Tests; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies | 1990 |
EEG development in early treated PKU patients from birth to 6 years of age.
Topics: Aging; Electroencephalography; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1990 |
Results of psychological testing of patients aged 3-6 years.
Topics: Child, Preschool; Cognition; Cross-Sectional Studies; Humans; Intelligence Tests; Language Development; Longitudinal Studies; Phenylalanine; Phenylketonurias; Psychological Tests | 1990 |
Preliminary neuropsychological test results.
Topics: Child; Female; Humans; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Task Performance and Analysis | 1990 |
[Follow up protocol of patients with hyperphenylalaninemia].
Topics: Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias | 1990 |
Plasma concentrations of phenyllactic acid in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Food, Formulated; Humans; Infant; Lactates; Phenylalanine; Phenylketonurias | 1990 |
False positive result of Guthrie inhibition assay for histidinaemia in a patient with phenylketonuria.
Topics: Amino Acids; Biological Assay; False Positive Reactions; Food, Formulated; Histidine; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1990 |
Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations.
Topics: Congenital Abnormalities; Facial Bones; Female; Heart Defects, Congenital; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome | 1990 |
Phenylketonuria in Turkey: experience with an enzymatic colorimetric test for measurement of serum phenylalanine.
Topics: Amino Acid Oxidoreductases; Colorimetry; Humans; Phenylalanine; Phenylketonurias; Turkey | 1990 |
Fetal damage due to maternal phenylketonuria: effects of dietary treatment and maternal phenylalanine concentrations around the time of conception (an interim report from the UK Phenylketonuria Register).
Topics: Adolescent; Adult; Birth Weight; Embryonic and Fetal Development; Female; Head; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1990 |
Brain damage and recovery in hyperphenylalaninemic rats.
Topics: 2',3'-Cyclic-Nucleotide Phosphodiesterases; Animals; Body Weight; Brain Diseases; Magnetic Resonance Spectroscopy; Myelin Sheath; Organ Size; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Sulfotransferases; Sulfurtransferases | 1990 |
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?
Topics: Germany, West; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prospective Studies; Sensitivity and Specificity; Time Factors | 1990 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine | 1990 |
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
Topics: Adrenal Gland Neoplasms; Biopterins; Catecholamines; Child; Coenzymes; Female; Humans; Neuroblastoma; Phenylalanine; Phenylketonurias; Serotonin | 1990 |
DNA haplotype analyses of patients with hyperphenylalaninemia.
Topics: Alleles; Blotting, Southern; Chi-Square Distribution; DNA; Female; Genetic Linkage; Genotype; Haplotypes; Humans; Lod Score; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1990 |
Protein metabolism in phenylketonuria and Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Amino Acids; Female; Growth Disorders; Humans; Lesch-Nyhan Syndrome; Leucine; Male; Middle Aged; Phenylalanine; Phenylketonurias; Proteins | 1990 |
[15 years of national screening for phenylketonuria in The Netherlands; 4th Report of the National Commission for Management of Phenylketonuria].
Topics: Community Participation; Humans; Infant, Newborn; Mass Screening; Netherlands; Phenylalanine; Phenylketonurias | 1990 |
Phenylalanine and its metabolites induce embryopathies in mouse embryos in culture.
Topics: Animals; Culture Techniques; Female; Mice; Mice, Inbred Strains; Neural Tube Defects; Phenylalanine; Phenylketonurias; Pregnancy; Teratogens | 1990 |
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values | 1990 |
A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtiter plates.
Topics: Amino Acid Oxidoreductases; Colorimetry; Humans; Infant, Newborn; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Sensitivity and Specificity | 1990 |
Plasma amino acids in term neonates and infants with phenylketonuria before and after institution of the diet.
Topics: Amino Acids; Fasting; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Time Factors | 1990 |
Plasma amino acids in phenylketonuric children treated either with phenylalanine-free amino acids or a protein hydrolysate.
Topics: Amino Acids; Child; Child, Preschool; Fasting; Female; Humans; Infant; Infant Food; Male; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1990 |
Phenylalanine metabolites in phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias | 1990 |
[Effect of dietary non-compliance on development in phenylketonuria--studies of 14-year-old patients].
Topics: Adolescent; Electroencephalography; Follow-Up Studies; Humans; Intelligence; Patient Compliance; Phenylalanine; Phenylketonurias | 1990 |
Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening.
Topics: Adolescent; Child; Child Development; Child, Preschool; Female; Fetal Blood; Humans; Intelligence; Longitudinal Studies; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Exposure Delayed Effects | 1990 |
Intelligence and quality of dietary treatment in phenylketonuria.
Topics: Child, Preschool; Cohort Studies; Humans; Intelligence; Phenylalanine; Phenylketonurias; Prospective Studies; Regression Analysis; Social Class; Stanford-Binet Test | 1990 |
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.
Topics: Adult; Female; Humans; Hydroxylation; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1990 |
Liquid-chromatographic measurement of biopterin and neopterin in serum and urine.
Topics: Adolescent; Adult; Biopterins; Child, Preschool; Chromatography, High Pressure Liquid; Humans; Neopterin; Phenylalanine; Phenylketonurias | 1990 |
Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation.
Topics: Animals; Animals, Newborn; Attention; Brain; Discrimination Learning; Female; Intellectual Disability; Lactation; Male; Orientation; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Retention, Psychology; Social Behavior; Social Environment; Transfer, Psychology | 1990 |
The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Disease Models, Animal; Ethylnitrosourea; Female; Humans; Male; Mice; Mice, Mutant Strains; Mutation; Phenotype; Phenylalanine; Phenylketonurias | 1990 |
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency.
Topics: Child, Preschool; Dopamine; Epinephrine; Female; Humans; NADH, NADPH Oxidoreductases; Norepinephrine; Phenylalanine; Phenylketonurias; Sinusitis; Tremor; Trimethoprim, Sulfamethoxazole Drug Combination | 1990 |
Clinical trial of 'off diet' older phenylketonurics with a new phenylalanine-free product.
Topics: Adolescent; Adult; Amino Acids; Female; Follow-Up Studies; Food, Fortified; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias | 1990 |
Cranial computerized tomography in dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Basal Ganglia Diseases; Brain Diseases; Calcinosis; Developmental Disabilities; Female; Humans; Infant; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1985 |
The depletion of tryptophan and serotonin in the brain of developing hyperphenylalaninemic rats is abolished by the additional administration of lysine.
Topics: Animals; Brain Chemistry; Hydroxyindoleacetic Acid; Lysine; Male; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Serotonin; Tryptophan | 1986 |
Neurotransmitter therapy and diet in malignant phenylketonuria.
Topics: 5-Hydroxytryptophan; Carbidopa; Combined Modality Therapy; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Infant, Newborn; Levodopa; Phenylalanine; Phenylketonurias | 1987 |
Developmental changes of myelin-associated glycoprotein in rat brain: study on experimental hyperphenylalaninemia.
Topics: Animals; Brain; Brain Chemistry; Molecular Weight; Myelin Basic Protein; Myelin Proteins; Myelin Proteolipid Protein; Myelin-Associated Glycoprotein; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Lew | 1987 |
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine.
Topics: Adolescent; Adult; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Reaction Time; Tyrosine; Visual Perception | 1988 |
EEG mean frequencies are sensitive indices of phenylalanine effects on normal brain.
Topics: Adult; Brain; Child; Electroencephalography; Female; Heterozygote; Homozygote; Humans; Male; Phenylalanine; Phenylketonurias | 1989 |
Evidence for inhibition of exodus of small neutral amino acids from non-brain tissues in hyperphenylalaninaemic rats.
Topics: Amino Acids; Animals; Biological Transport; Brain; Disease Models, Animal; Liver; Male; Muscles; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1989 |
Neurological deterioration in adult phenylketonuria.
Topics: Adolescent; Adult; Biogenic Amines; Biopterins; Brain; Diet Therapy; Humans; Magnetic Resonance Imaging; Male; Muscle Spasticity; Neopterin; Phenylalanine; Phenylketonurias; Seizures | 1989 |
Progressive systemic scleroderma in an infant with partial phenylketonuria.
Topics: Adrenal Cortex Hormones; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Scleroderma, Systemic | 1989 |
Continuation vs discontinuation of diet in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Electroencephalography; Humans; Intelligence; Neuropsychological Tests; Neurotransmitter Agents; Nutritional Status; Phenylalanine; Phenylketonurias | 1989 |
[Intellectual development of phenylketonuria children treated early--a longitudinal study. 10 years' concomitant psychological study in The Netherlands].
Topics: Child; Child Development; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias; Stanford-Binet Test; Wechsler Scales | 1989 |
[The early diagnosis of phenylketonuria].
Topics: Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1989 |
School achievement in treated PKU children.
Topics: Achievement; Child; Education of Intellectually Disabled; Follow-Up Studies; Humans; Intelligence Tests; Phenylalanine; Phenylketonurias | 1989 |
[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)].
Topics: Adolescent; Child; Female; Humans; Phenylalanine; Phenylketonurias; Scleroderma, Localized; Vitiligo | 1989 |
Maternal phenylketonuria.
Topics: Adolescent; Adult; Dietary Proteins; Female; Food, Fortified; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Nutritional Requirements; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1989 |
Phenylketonuria diet in adolescents--energy and nutrient intake--is it adequate?
Topics: Adolescent; Amino Acids; Dietary Proteins; Energy Intake; Food, Fortified; Humans; Nutritional Requirements; Phenylalanine; Phenylketonurias; Software | 1989 |
Outcome of early detected and early treated phenylketonuria patients.
Topics: Child; Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonurias | 1989 |
Aspartame metabolism in normal adults, phenylketonuric heterozygotes, and diabetic subjects.
Topics: Adult; Aspartame; Aspartic Acid; Blood Glucose; Diabetes Mellitus, Type 2; Dipeptides; Erythrocytes; Female; Glucagon; Heterozygote; Humans; Insulin; Lipids; Male; Methanol; Phenylalanine; Phenylketonurias; Reference Values | 1989 |
[Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)].
Topics: Alcohol Oxidoreductases; Biopterins; Diagnosis, Differential; Germany, West; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases | 1989 |
Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States.
Topics: Congenital Abnormalities; Female; Genetic Techniques; Genetic Testing; Humans; Obstetrics; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Registries; Syndrome; United States | 1989 |
Phenylketonuria.
Topics: Diagnosis, Differential; Female; Humans; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1989 |
Maternal PKU pre-conception treatment--the need for free prescriptions.
Topics: Female; Genetic Counseling; Humans; Infant, Newborn; Male; Midwifery; Phenylalanine; Phenylketonurias; Pregnancy | 1989 |
Blood selenium concentrations and glutathione peroxidase activity.
Topics: Adolescent; Adult; Child; Child, Preschool; Glutathione Peroxidase; Humans; Phenylalanine; Phenylketonurias; Selenium | 1989 |
HPLC measurement of phenylalanine by direct injection of plasma onto an internal-surface reversed-phase silica support.
Topics: Chromatography, High Pressure Liquid; Hemolytic-Uremic Syndrome; Humans; Phenylalanine; Phenylketonurias; Spectrophotometry, Ultraviolet | 1989 |
DHPR activity decrease in dried blood spots stored at 4 degrees C.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Cold Temperature; Desiccation; Dihydropteridine Reductase; Enzyme Stability; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Reference Values | 1989 |
Intelligence and behaviour in children with early treated phenylketonuria. A report from the MRC/DHSS phenylketonuria register.
Topics: Adolescent; Child; Child Behavior Disorders; Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias; Registries; United Kingdom | 1989 |
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria.
Topics: Amino Acids, Branched-Chain; Animals; Female; Learning; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy, Animal; Prenatal Exposure Delayed Effects; Rats; Rats, Inbred Strains | 1989 |
Biochemical and developmental features of experimental phenylketonuria induced by L-ethionine in suckling rats.
Topics: Adenosine Triphosphate; Animals; Animals, Suckling; Body Weight; Brain Chemistry; Electrophoresis, Gel, Two-Dimensional; Ethionine; Liver; Male; Methionine; Organ Size; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats; Rats, Inbred Strains; Tryptophan | 1989 |
Effects of oral administration of artificial cells immobilized phenylalanine ammonia-lyase on intestinal amino acids of phenylketonuric rats.
Topics: Administration, Oral; Amino Acids; Ammonia-Lyases; Animals; Enzymes, Immobilized; Intestinal Mucosa; Intestines; Male; Membranes, Artificial; Microspheres; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rats; Rats, Inbred Strains | 1989 |
Maternal phenylketonuria.
Topics: Brain Diseases; Cohort Studies; Embryonic and Fetal Development; Female; Fetal Diseases; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome | 1989 |
Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening.
Topics: Autoanalysis; Humans; Mass Screening; Microchemistry; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1989 |
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Topics: Antineoplastic Agents; Biopterins; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Precursor Cell Lymphoblastic Leukemia-Lymphoma | 1989 |
The incidence of phenylketonuria in Thailand.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Thailand | 1989 |
Monitoring of phenylketonuria: a colorimetric method for the determination of plasma phenylalanine using L-phenylalanine dehydrogenase.
Topics: Amino Acid Oxidoreductases; Autoanalysis; Deamination; Evaluation Studies as Topic; Humans; Kinetics; Monitoring, Physiologic; Phenylalanine; Phenylketonurias; Rhodococcus; Spectrophotometry | 1989 |
Aspartame may imperil dietary control of phenylketonuria.
Topics: Aspartame; Child; Dipeptides; Humans; Phenylalanine; Phenylketonurias | 1985 |
Prenatal diagnosis of classic phenylketonuria by DNA analysis.
Topics: Deoxyribonuclease EcoRI; DNA; DNA Restriction Enzymes; Female; Fetal Blood; Genetic Markers; Humans; Infant, Newborn; Male; Pedigree; Phenotype; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis | 1985 |
Aspartame. Review of safety issues. Council on Scientific Affairs.
Topics: Adolescent; Adult; Animals; Aspartame; Aspartic Acid; Brain Chemistry; Brain Diseases; Brain Neoplasms; Carbonated Beverages; Carcinogens; Child; Dietary Carbohydrates; Diketopiperazines; Dipeptides; Drug Stability; Endocrine System Diseases; Female; Glutamates; Glutamic Acid; Humans; Infant; Intellectual Disability; Methanol; Mice; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Piperazines; Pregnancy; Rats | 1985 |
Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function.
Topics: Central Nervous System; Dopamine; Humans; Neurotransmitter Agents; Norepinephrine; Phenylalanine; Phenylketonurias; Psychological Tests; Serotonin; Tyrosine | 1986 |
Hyperphenylalaninaemia in parenterally fed newborn babies.
Topics: Humans; Infant, Newborn; Parenteral Nutrition, Total; Phenylalanine; Phenylketonurias | 1986 |
Phenylalanine content and total parenteral nutrition.
Topics: Humans; Infant, Newborn; Parenteral Nutrition, Total; Phenylalanine; Phenylketonurias; Solutions | 1987 |
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Topics: Biopterins; Humans; Infant, Newborn; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1987 |
Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register.
Topics: Birth Weight; Congenital Abnormalities; Diet; Dose-Response Relationship, Drug; Embryonic and Fetal Development; Female; Gestational Age; Head; Humans; Infant, Newborn; International Cooperation; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prospective Studies; Time Factors | 1987 |
Two mutations of dihydropteridine reductase deficiency.
Topics: Dihydropteridine Reductase; Female; Folic Acid; Humans; Infant; Male; Mutation; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pterins; Tyrosine | 1988 |
Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.
Topics: Alleles; Denmark; Gene Frequency; Genetic Linkage; Genetic Markers; Germany, East; Heterozygote; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length | 1988 |
Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria.
Topics: Animals; Brain; Carbon Radioisotopes; Disease Models, Animal; Female; Fenclonine; Fetal Heart; Fetus; Leucine; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Polyribosomes; Pregnancy; Protein Biosynthesis; Rats; Rats, Inbred Strains; Urea | 1986 |
Studies on experimentally induced hyperphenylalaninemia.
Topics: Animals; Disease Models, Animal; Drug Combinations; Female; Fenclonine; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Inbred Strains; Sulfamethoxazole; Trimethoprim; Trimethoprim, Sulfamethoxazole Drug Combination | 1988 |
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain.
Topics: 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase; 2',3'-Cyclic-Nucleotide Phosphodiesterases; Animals; Brain; Discrimination Learning; Female; Gestational Age; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Phosphoric Diester Hydrolases; Pregnancy; Rats; Rats, Inbred Strains | 1985 |
Cerebral glycine content and phosphoserine phosphatase activity in hyperaminoacidemias.
Topics: Age Factors; Amino Acids; Aminomethyltransferase; Animals; Brain; Glycine; Humans; Hydroxymethyl and Formyl Transferases; Phenylalanine; Phenylketonurias; Phosphoric Monoester Hydrolases; Rats; Rats, Inbred F344; Transferases | 1987 |
Metabolic conversion of L-[U-14C]phenylalanine to respiratory 14CO2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics.
Topics: Breath Tests; Carbon Dioxide; Carbon Radioisotopes; Deuterium; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Plasma chromium and manganese levels in treated PKU patients.
Topics: Adolescent; Child; Child, Preschool; Chromium; Dietary Proteins; Humans; Infant; Manganese; Phenylalanine; Phenylketonurias | 1986 |
Annual meeting of the Society for the Study of Inborn Errors of Metabolism. Liverpool, 3-6 September 1985.
Topics: Humans; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1986 |
Diagnosis in relationship to treatment of hyperphenylalaninaemia.
Topics: Animals; Humans; Intelligence; Milk; Phenylalanine; Phenylketonurias | 1986 |
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Topics: Biopterins; Child, Preschool; Dihydropteridine Reductase; Female; Fibroblasts; Humans; Male; Mutation; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1986 |
Lysosomal protein degradation in experimental hyperphenylalaninaemia.
Topics: Acetylglucosaminidase; Animals; Animals, Suckling; Brain; Cathepsin D; Cathepsin L; Cathepsins; Cysteine Endopeptidases; Endopeptidases; Liver; Lysosomes; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Proteins; Rats; Rats, Inbred Strains | 1986 |
Phenylketonuria and scleroderma.
Topics: Adult; Female; Humans; Phenylalanine; Phenylketonurias; Scleroderma, Localized | 1986 |
Maternal PKU syndrome in an exceptional family with unexpected PKU.
Topics: Adult; Child, Preschool; Female; Humans; In Vitro Techniques; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1987 |
Phenylketonuria revisited: treatment of adults with behavioural manifestations.
Topics: Adult; Behavior; Diseases in Twins; Female; Humans; Phenylalanine; Phenylketonurias; Psychological Tests | 1987 |
A source of error in phenylketonuria screening.
Topics: Agar; Ampicillin; Bacillus subtilis; Diffusion; False Positive Reactions; Female; Fluorescence; Hot Temperature; Humans; Infant, Newborn; Infant, Premature; Male; Paper; Phenylalanine; Phenylketonurias | 1988 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1988 |
Serotonin and noradrenaline concentrations and serotonin uptake in platelets from hyperphenylalaninaemic patients.
Topics: Adolescent; Adult; Blood Platelets; Carbon Radioisotopes; Child, Preschool; Humans; Kinetics; Norepinephrine; Phenylalanine; Phenylketonurias; Serotonin | 1988 |
Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein source.
Topics: Adult; Dietary Proteins; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1988 |
Changes in phenylalanine tolerance while monitoring the dietetic treatment of pregnant women suffering from hyperphenylalaninaemia.
Topics: Drug Tolerance; Female; Fetus; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications | 1988 |
Biochemical and nutritional status of children with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Nutritional Status; Phenylalanine; Phenylketonurias | 1988 |
PKU and NON-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results.
Topics: Diagnosis, Differential; DNA; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1988 |
Dietary treatment of PKU using a low-phenylalanine peptide milk.
Topics: Adult; Amino Acids; Animals; Child, Preschool; Female; Food, Formulated; Humans; Infant; Infant Food; Infant, Newborn; Milk; Phenylalanine; Phenylketonurias | 1988 |
Blood phenylalanine levels and intelligence of 10-year-old children with PKU in the National Collaborative Study.
Topics: Child; Dietary Proteins; Energy Intake; Humans; Intelligence; Phenylalanine; Phenylketonurias; Regression Analysis | 1988 |
HPLC measurement of phenylalanine in plasma.
Topics: Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Temperature | 1988 |
Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception.
Topics: Child; Child, Preschool; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1988 |
Phenylalanine uptake in neonatal and infant rat brain.
Topics: Animals; Animals, Newborn; Blood-Brain Barrier; Brain; Phenylalanine; Phenylketonurias; Rats | 1988 |
Phenylketonuria: implications of initial serum phenylalanine levels on cognitive development.
Topics: Child Development; Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias | 1988 |
[Changes in phenylalanine tolerance during the monitoring of diet therapy of pregnant women with phenylketonuria].
Topics: Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1988 |
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
Topics: Basal Ganglia Diseases; Calcinosis; Child; Female; Globus Pallidus; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Putamen; Tomography, X-Ray Computed | 1988 |
[Experiences in managing a camp for children with phenylketonuria].
Topics: Camping; Child; Child, Preschool; Germany, East; Humans; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1988 |
[Status of mineral nutrition in children with phenylketonuria treated by low phenylalanine diet. III. Magnesium].
Topics: Adolescent; Child; Child, Preschool; Hair; Humans; Infant; Magnesium; Magnesium Deficiency; Phenylalanine; Phenylketonurias | 1988 |
Analysis of the pentafluorobenzoyl derivative of phenylethylamine utilizing negative ion chemical ionization and gas chromatography/mass spectrometry.
Topics: Benzoates; Chemical Phenomena; Chemistry; Gas Chromatography-Mass Spectrometry; Humans; Phenethylamines; Phenylalanine; Phenylketonurias | 1988 |
[Phenylketonuria from the current viewpoint].
Topics: Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Risk Factors | 1988 |
Evoked potentials and electroencephalography in adolescents with phenylketonuria.
Topics: Adolescent; Cross-Sectional Studies; Electroencephalography; Evoked Potentials, Auditory; Evoked Potentials, Visual; Female; Humans; Male; Phenylalanine; Phenylketonurias; Reaction Time; Time Factors | 1988 |
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pterins | 1988 |
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
Topics: Alcohol Oxidoreductases; Biopterins; Child, Preschool; Female; Heterozygote; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins | 1987 |
Galactosemia detection from phenylketonuria screening.
Topics: Female; Galactosemias; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1988 |
[Disease course in 20 patients with an early diagnosis of phenylketonuria and hyperphenylalaninemia].
Topics: Adolescent; Anthropometry; Child; Child, Preschool; Female; Humans; Infant; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 1988 |
Behavior disturbance in 8-year-old children with early treated phenylketonuria. Report from the MRC/DHSS Phenylketonuria Register.
Topics: Child; Child Behavior Disorders; Female; Humans; Male; Phenylalanine; Phenylketonurias; Sex Factors; Social Class | 1988 |
Phenylalanine metabolites as indicators of dietary compliance in children with phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias | 1988 |
Blood phenylalanine estimation for the patient with phenylketonuria using a portable device.
Topics: Ammonia; Blood Specimen Collection; Colorimetry; Humans; Monitoring, Physiologic; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Spectrometry, Fluorescence | 1988 |
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers.
Topics: Adult; Child; Female; Genetic Carrier Screening; Humans; Male; Models, Genetic; Phenylalanine; Phenylketonurias; Probability; Statistics as Topic; Tyrosine | 1988 |
[Aspartame, a sweet alternative].
Topics: Adolescent; Adult; Animals; Aspartame; Carcinogens; Child; Child, Preschool; Dipeptides; Energy Intake; Energy Metabolism; Humans; Phenylalanine; Phenylketonurias; Rats | 1988 |
The New England Maternal PKU Project: identification of at-risk women.
Topics: Adolescent; Adult; Child; Epidemiologic Methods; Female; Genetic Diseases, Inborn; Health; Humans; Maternal-Child Health Centers; Medical Records; New England; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnant Women; Risk Factors | 1988 |
Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early.
Topics: Adolescent; Age Factors; Brain; Child; Child Development; Electroencephalography; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Prognosis; Retrospective Studies | 1988 |
The effects of diet discontinuation in children with phenylketonuria.
Topics: Child; Child Development; Child, Preschool; Female; Humans; Infant; Intelligence; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias | 1988 |
Study of phenylketonuria incidence in Thai children.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Thailand | 1988 |
[Offspring of mothers with hyperphenylalaninemia treated with a low phenylalanine diet before conception and during pregnancy].
Topics: Birth Weight; Cephalometry; Child Development; Female; Humans; Infant, Newborn; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1988 |
[20 years' neonatal detection. Results and prospects].
Topics: Adrenal Hyperplasia, Congenital; Congenital Hypothyroidism; France; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1988 |
Phenylalanine control and family functioning in early-treated phenylketonuria.
Topics: Child; Child Behavior; Child, Preschool; Cognition; Family; Humans; Parents; Phenylalanine; Phenylketonurias; Stress, Psychological | 1987 |
About changes of the phenylalanine-tyrosine metabolism in psoriasis vulgaris.
Topics: Adult; Female; Genetic Carrier Screening; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Psoriasis; Tyrosine | 1986 |
Treatment of phenylketonuria with a formula consisting of low-phenylalanine peptide. A collaborative study.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Food, Formulated; Humans; Infant; Infant Food; Infant, Newborn; Peptides; Phenylalanine; Phenylketonurias; Pregnancy; Prognosis; Taste | 1987 |
[Evaluation of the status of mineral nutrition of children with phenylketonuria treated by a low-phenylalanine diet. II. Zinc].
Topics: Adolescent; Child; Child, Preschool; Hair; Humans; Infant; Nutritional Requirements; Phenylalanine; Phenylketonurias; Zinc | 1987 |
[Trial of indirect screening of tetrahydrobiopterin deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
[Maternal phenylketonuria].
Topics: Adult; Anthropometry; Birth Weight; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Time Factors | 1987 |
[Embryofetopathy caused by postnatally detected maternal phenylketonuria].
Topics: Adult; Diagnosis, Differential; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy | 1987 |
Issues in the dietary management of phenylketonuria: breast-feeding and trace-metal nutriture.
Topics: Biological Availability; Breast Feeding; Dietary Proteins; Humans; Infant; Infant Food; Infant Nutritional Physiological Phenomena; Iron; Phenylalanine; Phenylketonurias; Trace Elements; Zinc | 1986 |
Maternal PKU: strategies for dietary treatment and monitoring compliance.
Topics: Adolescent; Adult; Female; Food, Formulated; Humans; Infant, Newborn; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1986 |
Dietary and genetic therapy of inborn errors of metabolism: a summary.
Topics: Adult; Breast Feeding; Enzyme Therapy; Female; Genetic Engineering; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Psychomotor Performance; Zinc | 1986 |
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-Mass Spectrometry; Humans; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria.
Topics: Alcohol Oxidoreductases; Amniocentesis; Amniotic Fluid; Biopterins; Child, Preschool; Female; Humans; Infant; Male; Neopterin; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis; Tyrosine | 1986 |
Circulating serum phenylalanine concentrations and the effect of arginine infusion on plasma levels of growth hormone and insulin in treated phenylketonuric children.
Topics: Adolescent; Arginine; Child; Child, Preschool; Female; Growth Hormone; Humans; Infant; Infusions, Intravenous; Insulin; Insulin-Like Growth Factor I; Male; Phenylalanine; Phenylketonurias | 1987 |
Consumption of aspartame by heterozygotes for phenylketonuria.
Topics: Aspartame; Dipeptides; Female; Fetal Diseases; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Pregnancy | 1987 |
Phenylketonuria in Kuwait and Arab countries.
Topics: Adolescent; Adult; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Kuwait; Male; Middle Aged; Middle East; Phenylalanine; Phenylketonurias | 1987 |
Pre-conceptual dietary management for maternal phenylketonuria.
Topics: Adolescent; Adult; Contraception; Female; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1987 |
Serum carnosinase in blood and homocarnosine in CSF of patients with Følling's disease (PKU).
Topics: Adolescent; Carnosine; Child; Dipeptidases; Dipeptides; Female; Humans; Infant, Newborn; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1987 |
Psychoeducational findings among children treated for phenylketonuria.
Topics: Achievement; Age Factors; Child; Humans; Intelligence; Mathematics; Phenylalanine; Phenylketonurias; Psychomotor Performance; Reading | 1987 |
Summary report of an International Aspartame Workshop.
Topics: Animals; Aspartame; Biotransformation; Dipeptides; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy | 1987 |
Implementation of a self-care approach in a pediatric interdisciplinary phenylketonuria (PKU) clinic.
Topics: Adolescent; Adult; Child; Child, Preschool; Dietary Proteins; Female; Humans; Male; Patient Care Planning; Phenylalanine; Phenylketonurias; Pregnancy; Self Care | 1986 |
[Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia].
Topics: Child; Clinical Enzyme Tests; Diagnosis, Differential; Female; Humans; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1987 |
The effects of diet discontinuation in children with phenylketonuria.
Topics: Child; Female; Follow-Up Studies; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Random Allocation | 1987 |
Continuation vs discontinuation of low-phenylalanine diet in PKU adolescents.
Topics: Adolescent; Follow-Up Studies; Humans; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias; Psychology, Adolescent; Retrospective Studies; Time Factors | 1987 |
Intellectual and school performances in early-treated classical PKU patients. The French collaborative study.
Topics: Adolescent; Child; Educational Status; France; Humans; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias; Retrospective Studies; Socioeconomic Factors | 1987 |
Phenylketonuria: outcome and problems in a "diet-for-life" clinic.
Topics: Adolescent; Child; Female; Humans; Intelligence; Intelligence Tests; Male; Patient Compliance; Phenylalanine; Phenylketonurias; Psychology, Adolescent; Retrospective Studies | 1987 |
Trace elements nutriture in hyperphenylalaninemic patients. Long-term follow up study.
Topics: Child; Child, Preschool; Female; Ferritins; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Nutritional Status; Phenylalanine; Phenylketonurias; Time Factors; Trace Elements | 1987 |
HPLC assay of phenylalanine and tyrosine in blood spots on filter paper.
Topics: Adult; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Humans; Infant, Newborn; Mass Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
Topics: Alleles; DNA; Female; Genetic Carrier Screening; Humans; Male; Mutation; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic | 1986 |
Paternal hyperphenylalaninemia.
Topics: Adult; Child; Child, Preschool; Fathers; Female; Genotype; Heterozygote; Humans; Infant; Male; Pedigree; Phenylalanine; Phenylketonurias; Reproduction | 1986 |
Social quotients of children with phenylketonuria before and after discontinuation of dietary therapy.
Topics: Child; Child, Preschool; Follow-Up Studies; Humans; Intelligence; Phenylalanine; Phenylketonurias; Psychological Tests; Psychometrics; Social Adjustment; Social Behavior | 1986 |
Induction of hyperphenylalaninemia in mice by ethionine and phenylalanine.
Topics: Adenosine Triphosphate; Amino Acids; Animals; Body Weight; Ethionine; Female; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Triglycerides | 1986 |
[Clinical analysis of 74 cases of phenylketonuria and hyperphenylalanemia].
Topics: Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Prognosis | 1986 |
Experience with adolescents with phenylketonuria returned to phenylalanine-restricted diets.
Topics: Adolescent; Diet; Female; Humans; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1986 |
[Aspartame: a sweetening agent with a high phenylalanine content].
Topics: Aspartame; Child; Dipeptides; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Risk | 1986 |
Children with inborn errors of phenylalanine metabolism: prognosis and phenylalanine tolerance.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Sweden | 1986 |
Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model.
Topics: Ammonia-Lyases; Animals; Capsules; Enzymes, Immobilized; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rats; Rats, Inbred Strains | 1986 |
Relative reliability of three different discriminant analysis methods for detecting PKU gene carriers.
Topics: Biometry; Fasting; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Prevention of fetal damage through dietary control of maternal hyperphenylalaninemia.
Topics: Adolescent; Animals; Child; Child, Preschool; Female; Fetal Diseases; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1986 |
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria.
Topics: Chromatography, High Pressure Liquid; Female; Genetic Carrier Screening; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria.
Topics: Amino Acids; Aspartame; Dipeptides; Heterozygote; Humans; Phenylalanine; Phenylketonurias | 1986 |
Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test.
Topics: Adult; Anemia, Hypochromic; Fasting; Female; Genetic Carrier Screening; Humans; Iron; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1986 |
The NIH-shift in the in vivo hydroxylation of ring-deuterated L-phenylalanine in man.
Topics: Adult; Biotransformation; Deuterium; Genetic Carrier Screening; Humans; Hydroxylation; Isotope Labeling; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency].
Topics: Female; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1986 |
[Status of mineral nutrition of children with phenylketonuria treated with a low-phenylalanine diet. I. Iron and copper].
Topics: Adolescent; Child; Child, Preschool; Copper; Humans; Infant; Iron Deficiencies; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1986 |
Entrapment of phenylalanine ammonia-lyase in silk fibroin for protection from proteolytic attack.
Topics: Ammonia-Lyases; Animals; Chymotrypsin; Cinnamates; Fibroins; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rats; Trypsin | 1986 |
Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading.
Topics: Female; Genetic Carrier Screening; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
[A case of impaired dihydrobiopterin synthesis with marked diurnal fluctuation].
Topics: Adult; Biopterins; Circadian Rhythm; Humans; Intellectual Disability; Male; Movement Disorders; Phenylalanine; Phenylketonurias | 1986 |
New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes.
Topics: Adolescent; Adult; Female; Fetal Blood; Fetal Diseases; Humans; Infant, Newborn; Microcephaly; Patient Compliance; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Diagnosis; Prognosis; Tyrosine | 1987 |
Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Intelligence; Intelligence Tests; Male; Outcome and Process Assessment, Health Care; Phenylalanine; Phenylketonurias; Probability | 1987 |
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
Topics: Aminohydrolases; Biopterins; Chromatography, High Pressure Liquid; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Infant, Newborn; Liver; Male; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1987 |
Extracorporeal enzyme reactors for depletion of phenylalanine in phenylketonuria.
Topics: Adult; Ammonia-Lyases; Enzymes, Immobilized; Humans; Male; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Renal Dialysis | 1987 |
Hyperphenylalaninemia in Polish children's population.
Topics: Diagnosis, Differential; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Poland; Tyrosine | 1985 |
Women with phenylketonuria: successful management of pregnancy and implications.
Topics: Adolescent; Adult; Congenital Abnormalities; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; New Zealand; Patient Education as Topic; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy in Adolescence; Time Factors | 1985 |
[Dietary therapy of phenylketonuric patients in Taiwan].
Topics: Adolescent; Adult; Age Factors; Body Weight; Child; Child, Preschool; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Taiwan | 1985 |
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Drug Combinations; Female; Humans; Infant, Newborn; Levodopa; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine | 1985 |
Amino acid depletion in the blood and brain tissue of hyperphenylalaninemic rats is abolished by the administration of additional lysine: a contribution to the understanding of the metabolic defects in phenylketonuria.
Topics: Age Factors; Amino Acids; Animals; Brain Chemistry; Humans; Lysine; Organ Size; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Rats, Inbred Strains | 1985 |
Hyperphenylalaninaemia caused by defects in biopterin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biogenic Amines; Biopterins; Brain; Humans; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Differential diagnosis of tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biogenic Amines; Biopterins; Brain; Folic Acid; Folic Acid Deficiency; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Outcome of pregnancy in the rat with mild hyperphenylalaninaemia and hypertyrosinaemia: implications for the management of "human maternal PKU".
Topics: Animals; Brain Diseases; Discrimination, Psychological; Disease Models, Animal; Female; Motor Activity; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Exposure Delayed Effects; Rats; Space Perception; Tyrosine | 1985 |
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia.
Topics: Adolescent; Child; Child, Preschool; Female; Ferritins; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 1985 |
Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria.
Topics: Adolescent; Age Factors; Child; Child Behavior; Child Behavior Disorders; Food Analysis; Humans; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias | 1986 |
Newborn metabolic screening: a search for "nature's experiments".
Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Thiamine; Time Factors; United States | 1986 |
Discontinuing the PKU diet.
Topics: Child; Cognition; Humans; Intelligence; Patient Compliance; Phenylalanine; Phenylketonurias; Retrospective Studies; Time Factors | 1986 |
Neurological aspects of biopterin metabolism.
Topics: Adolescent; Biological Assay; Biopterins; Child; Child, Preschool; Dystonia Musculorum Deformans; Humans; Infant; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines | 1986 |
An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase.
Topics: Ammonia-Lyases; Enzymes, Immobilized; Extracorporeal Circulation; Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Renal Dialysis; Time Factors | 1986 |
Neurometabolic effects of an inborn error of amino acid metabolism demonstrated in vivo by 1H NMR.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Chemistry; Female; Histidine; Humans; Magnetic Resonance Spectroscopy; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias; Spectrum Analysis | 1986 |
Reinstitution of diet therapy in PKU patients from twenty-two US clinics.
Topics: Adolescent; Adult; Child; Cognition; Emotions; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Surveys and Questionnaires; United States | 1985 |
[Screening for raised serum phenylalanine levels in women of reproductive age in Volendam].
Topics: Adolescent; Adult; Female; Humans; Mass Screening; Netherlands; Phenylalanine; Phenylketonurias | 1985 |
[10 years' national screening study of the incidence of phenylketonuria in the Netherlands; 3d report of the National Advisory Phenylketonuria Commission].
Topics: Child Development; Child, Preschool; Electroencephalography; Growth; Humans; Infant; Infant, Newborn; Mass Screening; Netherlands; Phenylalanine; Phenylketonurias | 1985 |
Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction.
Topics: Adolescent; Child; Child Development; Cognition; Electroencephalography; Female; Food, Formulated; Humans; Male; Motion Perception; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Stanford-Binet Test; Visual Perception; Wechsler Scales | 1985 |
Amino acid and protein requirements in a preterm infant with classic phenylketonuria.
Topics: Amino Acids; Body Weight; Dietary Proteins; Female; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Premature; Nutritional Requirements; Phenylalanine; Phenylketonurias; Tyrosine | 1985 |
Maternal phenylketonuria and phenylalanine restricted diet. Studies of 7 pregnancies and of offsprings produced.
Topics: Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prognosis | 1985 |
Neuropsychological deficits in early treated phenylketonuric children.
Topics: Achievement; Child; Dominance, Cerebral; Female; Humans; Intelligence; Learning Disabilities; Male; Neurocognitive Disorders; Neuropsychological Tests; Phenylalanine; Phenylketonurias | 1985 |
Relationship between phenylalanine tolerance and psychological characteristics of phenylketonuric families.
Topics: Adolescent; Adult; Analysis of Variance; Child; Female; Heterozygote; Homozygote; Humans; Intelligence Tests; Male; Personality Tests; Phenylalanine; Phenylketonurias; Tyrosine | 1985 |
Maternal PKU.
Topics: Birth Weight; Female; Fetal Blood; Humans; Infant, Newborn; Intelligence; Mass Screening; Maternal-Fetal Exchange; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1985 |
Differential diagnosis and treatment of hyperphenylalaninaemia.
Topics: Acid-Base Equilibrium; Amino Acids; Biopterins; Diagnosis, Differential; Galactosemias; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias | 1985 |
Maternal phenylketonuria. Committee on Genetics.
Topics: Female; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Risk | 1985 |
Phenylalanine metabolites, attention span and hyperactivity.
Topics: Adolescent; Attention; Child; Child, Preschool; Female; Humans; Hyperkinesis; Infant; Infant, Newborn; Lactates; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1985 |
Studies on the mechanism for renal elimination of N-acetylphenylalanine: its pathophysiologic significance in phenylketonuria.
Topics: Animals; Humans; Kidney; Ligation; Male; Nephrectomy; Phenylalanine; Phenylketonurias; Probenecid; Protein Binding; Rats; Rats, Inbred Strains; Serum Albumin; Ureter | 1985 |
Experience based on 800,000 newborn screening tests of the Budapest Phenylketonuria Centre.
Topics: Child Health Services; Humans; Hungary; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1985 |
Preliminary report on inverse diurnal variation of phenylalanine: implications in maternal phenylketonuria.
Topics: Adult; Amino Acids; Circadian Rhythm; Female; Fetal Diseases; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1985 |
Phenylketonuria, adolescence, and diet.
Topics: Adolescent; Child; Child, Preschool; Dietary Proteins; Energy Intake; Female; Food, Formulated; Humans; Infant; Minerals; Nutritional Requirements; Patient Education as Topic; Phenylalanine; Phenylketonurias; Vitamins | 1985 |
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Male; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1985 |
Computer-implemented nutrition support of phenylketonuria.
Topics: Dietetics; Energy Intake; Humans; Infant; Infant Food; Microcomputers; Phenylalanine; Phenylketonurias; Tyrosine | 1985 |
Biological and behavioural assessments of young rhesus monkeys after intrauterine exposure to high phenylalanine concentrations.
Topics: Animals; Disease Models, Animal; Female; Learning; Macaca mulatta; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1985 |
[Effect of chronic hyperphenylalaninemia and hypoxia on the effectiveness of the alpha-ketoglutarate shunt in the brain].
Topics: Alanine Transaminase; Animals; Aspartate Aminotransferases; Brain; Chronic Disease; Citrates; Glutamates; Hypoxia; Ketoglutaric Acids; Phenylalanine; Phenylketonurias; Rats | 1985 |
[Intelligence of phenylketonuria patients treated early; 10-year psychological follow-up in the Netherlands].
Topics: Child; Child, Preschool; Female; Humans; Infant; Intelligence; Longitudinal Studies; Male; Netherlands; Phenylalanine; Phenylketonurias | 1985 |
Acidic metabolites of phenylalanine in plasma of phenylketonurics.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Chromatography, Gas; Humans; Hydrogen-Ion Concentration; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1985 |
Platelet phenylalanine hydroxylating activity in phenylketonurics and normal controls.
Topics: Adult; Blood Platelets; Child; Depressive Disorder; Humans; Hydroxylation; Phenylalanine; Phenylketonurias | 1985 |
Lactation and phenylketonuria.
Topics: Adult; Amino Acids; Female; Humans; Infant, Newborn; Lactation; Milk, Human; Phenylalanine; Phenylketonurias; Pregnancy | 1985 |
[The guthrie test for the determination of phenylalanine in blood].
Topics: Child; Humans; Methods; Phenylalanine; Phenylketonurias | 1971 |
Birthweights in children with phenylketonuria and in their siblings.
Topics: Birth Weight; Body Height; Female; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Norway; Parity; Phenylalanine; Phenylketonurias; Pre-Eclampsia; Pregnancy; Pregnancy Complications; Uterine Hemorrhage | 1972 |
Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Epitopes; Genes; Genes, Regulator; Humans; Immunodiffusion; Kinetics; Liver; Lysophosphatidylcholines; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Sheep; Tyrosine | 1972 |
[A simplified method of determining the serum concentration of phenylalanine].
Topics: Chromatography, Paper; Humans; Methods; Phenylalanine; Phenylketonurias | 1972 |
Sex ratio among phenylketonuric infants in the United Kingdom.
Topics: Age Factors; Blood Specimen Collection; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Factors; Sex Ratio; United Kingdom | 1973 |
[Method of detection of heterozygotic carrier state in phenylketonuria].
Topics: Adult; Child; Genetic Counseling; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Editorial: The duration of treatment of phenylketonuria.
Topics: Age Factors; Child; Child Nutritional Physiological Phenomena; Child, Preschool; Diet Therapy; Humans; Infant; Infant Nutritional Physiological Phenomena; Phenylalanine; Phenylketonurias; Time Factors | 1974 |
Subnormality and its relation to psychiatry.
Topics: Adult; Brain; Child; Child Development; Chromosome Aberrations; Chromosome Disorders; Homocystinuria; Humans; Intellectual Disability; Intelligence; Mental Disorders; Metabolism, Inborn Errors; Norepinephrine; Phenethylamines; Phenylalanine; Phenylketonurias; Psychoanalysis; Psychophysiologic Disorders; Psychotic Disorders; Schizophrenia; Serotonin; Sex Chromosome Aberrations | 1974 |
Inherited metabolic disease.
Topics: Albumins; Amino Acid Metabolism, Inborn Errors; Chromatography; Clinical Laboratory Techniques; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; Galactosemias; Genetic Counseling; Humans; Hyperlipidemias; Infant; Infant, Newborn; Iron; Mass Screening; Meconium; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1974 |
Natural history of phenylketonuria and influence of early treatment.
Topics: Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors | 1974 |
Letter: A new molecular defect in phenylketonuria.
Topics: Chromatography, Ion Exchange; Humans; Infant; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1974 |
Enzymes involved in phenylalanine metabolism in the human foetus and child.
Topics: Child; Child, Preschool; Female; Fetus; Humans; Infant; Infant, Newborn; Ketoglutaric Acids; Ketone Oxidoreductases; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic; Pyruvates; Transaminases; Tyrosine Transaminase | 1973 |
Influence of age on ortho-hydroxyphenylacetic acid excretion in phenylketonuria and its genetic variants.
Topics: Age Factors; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylacetates; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Transaminases; Tyrosine Transaminase | 1974 |
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1973 |
Phenylalanine-hydroxylase activity in hyperphenylalaninaemia.
Topics: Adolescent; Adult; Diagnosis, Differential; Diet Therapy; Female; Hematologic Diseases; Humans; Infant; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias | 1967 |
Effect of dietetic therapy on EEG in phenylketonuria.
Topics: Animals; Diet Therapy; Electroencephalography; Humans; Infant; Milk; Phenylalanine; Phenylketonurias | 1967 |
A third allele at the phenylalanine-hydroxylase locus in mild phenylketonuria (hyperphenylalaninaemia).
Topics: Adult; Alleles; Antipyrine; Child; Female; Genetic Code; Heterozygote; Humans; Kinetics; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Phenylketonuria: mental development, behavior, and termination of low phenylalanine diet.
Topics: Adolescent; Age Factors; Autistic Disorder; Child Behavior Disorders; Developmental Disabilities; Diet Therapy; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Psychological Tests | 1968 |
[Considerations on the accelerated reactions in biology or the fair play with paper strips. 3. Phenylketonuria. Serum pseudocholinesterase activity. Blood urea].
Topics: Bacillus subtilis; Blood Urea Nitrogen; Chemistry, Clinical; Cholinesterases; Chromatography, Paper; Humans; Indicators and Reagents; Mass Screening; Methods; Myasthenia Gravis; Paper; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Staining and Labeling; Urease | 1969 |
Children of mothers with phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet Therapy; Family Planning Services; Female; Growth Disorders; Heart Defects, Congenital; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Microcephaly; Middle Aged; Phenylalanine; Phenylketonurias; Seizures; Strabismus; Tyrosine | 1970 |
Altered sex ratio among phenylketonuric infants ascertained by screening the newborn.
Topics: Adult; Age Factors; Birth Order; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Maternal Age; Parents; Phenylalanine; Phenylketonurias; Sex Ratio | 1970 |
Sex ratio in phenylketonuria.
Topics: Australia; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Sex Factors | 1970 |
Treatment of phenylketonuria.
Topics: Child, Preschool; Diet Therapy; Humans; Infant; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
Sex ratio in phenylketonuria.
Topics: Birth Injuries; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Factors | 1970 |
Sex ratio in phenylketonuria.
Topics: Birth Weight; Female; Humans; Infant, Newborn; Male; Massachusetts; New York; Phenylalanine; Phenylketonurias; Sex Factors | 1970 |
Screening for phenylketonuria.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Massachusetts; Methods; Phenylalanine; Phenylketonurias | 1970 |
[Diagnostic methods for the detection of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Blood Protein Electrophoresis; Chemistry, Clinical; Chromatography; Clinical Enzyme Tests; Colorimetry; Fluorometry; Histidine; Humans; Leucine; Mass Screening; Metabolic Diseases; Methionine; Methods; Microbial Sensitivity Tests; Organization and Administration; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
The aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Clone Cells; Culture Techniques; Female; Fibroblasts; Galactosemias; Genes, Recessive; Heterozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Sex Factors | 1972 |
The effect of feeding -2-thienylalanine on phenylalanine metabolism in the rhesus monkey.
Topics: Alanine; Animals; Animals, Newborn; Body Height; Body Weight; Brain; Cephalometry; Depression, Chemical; Feeding Behavior; Haplorhini; Humans; Macaca; Phenylalanine; Phenylketonurias; Thiophenes; Tyrosine | 1973 |
Avoidance learning in phenylketonuric monkeys.
Topics: Animals; Avoidance Learning; Conditioning, Psychological; Electroshock; Extinction, Psychological; Haplorhini; Humans; Macaca; Phenylalanine; Phenylketonurias | 1973 |
Learning in monkeys fed elevated amino acid diets.
Topics: Alanine; Amino Acids; Animals; Diet; Discrimination Learning; Female; Food; Glycine; Haplorhini; Histidine; Humans; Learning; Macaca; Monkey Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Problem Solving; Reward; Tryptophan; Tyrosine | 1973 |
Letter: Screening for phenylketonuria in mental retardates in Hyderabad using Guthrie's test.
Topics: Adolescent; Bacillus subtilis; Biological Assay; Child; Child, Preschool; Humans; India; Intellectual Disability; Phenylalanine; Phenylketonurias | 1974 |
[Female patient with a hebephrenic course of schizophrenia and later diagnosed phenylketonuria].
Topics: Adult; Amino Acids; Diagnosis, Differential; Female; Humans; Pedigree; Phenylalanine; Phenylketonurias; Schizophrenia; Time Factors; Tyrosine | 1969 |
A clinical and biochemical survey of 729 cases of mental subnormality.
Topics: Angiomatosis; Child; Child, Preschool; Congenital Hypothyroidism; Down Syndrome; Female; Hartnup Disease; Humans; India; Infant; Intellectual Disability; Laurence-Moon Syndrome; Lipidoses; Male; Marfan Syndrome; Microcephaly; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Sex Factors; Syphilis, Congenital | 1971 |
Behavioral, biochemical and maturation effects of early DL-para-chlorophenylalanine treatment.
Topics: Animals; Behavior, Animal; Body Weight; Bone Development; Brain Chemistry; Female; Fenclonine; Humans; Male; Muscle Development; Phenylalanine; Phenylketonurias; Rats; Serotonin; Time Factors | 1971 |
Effects of phenylalanine and related compounds on serum alkaline phosphatase assay.
Topics: Adult; Alkaline Phosphatase; Bone Diseases; Chemistry, Clinical; Chloramphenicol; Fenclonine; Humans; Liver Diseases; Melphalan; Neoplasms; Phenylalanine; Phenylketonurias; Stereoisomerism | 1971 |
[Examination technics in metabolic brain damage with special reference to thin-layer chromatography].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain Damage, Chronic; Child; Chromatography, Thin Layer; Down Syndrome; Female; Humans; Infant; Male; Maple Syrup Urine Disease; Mass Screening; Methods; Phenylalanine; Phenylketonurias | 1971 |
The feasibility of treating Down's disease with a reduced phenylalanine diet.
Topics: Diet Therapy; Down Syndrome; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Tryptophan | 1971 |
Enduring behavioral changes in rats with experimental phenylketonuria.
Topics: Aggression; Animals; Appetitive Behavior; Avoidance Learning; Behavior, Animal; Brain; Defecation; Disease Models, Animal; Female; Fenclonine; Humans; Liver; Male; Motor Activity; Organ Size; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Inbred Strains | 1972 |
5-hydroxyindole levels in the blood and CSF in Down's syndrome, phenylketonuria and severe mental retardation.
Topics: Adolescent; Adult; Child; Child, Preschool; Down Syndrome; Female; Humans; Hydroxyindoleacetic Acid; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Pneumoencephalography; Serotonin | 1972 |
Cataractogenesis in infant rats with model phenylketonuria.
Topics: Age Factors; Animals; Animals, Newborn; Cataract; Disease Models, Animal; Female; Fenclonine; Humans; Light; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Rats, Inbred Strains | 1972 |
Effect of glucagon and p-chlorophenylalanine on hepatic enzymes that metabolize phenylalanine.
Topics: Adolescent; Adult; Animals; Fenclonine; Glucagon; Humans; Liver; Male; Middle Aged; Phenylalanine; Phenylketonurias; Pyruvates; Rats; Transaminases | 1972 |
Effect of vitamin B 6 on phenylalanine metabolism in the brain of normal and p-chlorophenylalanine-treated rats.
Topics: Animals; Brain; Carbon Isotopes; Female; Fenclonine; Humans; Injections, Intraperitoneal; Injections, Subcutaneous; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxamine; Pyridoxine; Rats; Spectrometry, Fluorescence; Time Factors; Tritium | 1972 |
Determination of serum and urinary phenylalanine by gas chromatography.
Topics: Amino Acids; Chromatography, Gas; Fenclonine; Humans; Lactates; Phenylalanine; Phenylketonurias | 1973 |
Aromatic acids derived from phenylalanine in the tissues of rats with experimentally induced phenylketonuria-like characteristics.
Topics: Animals; Benzoates; Brain; Chromatography, Gas; Fenclonine; Humans; Lactates; Liver; Male; Mandelic Acids; Pargyline; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1972 |
Experimental maternal hyperphenylalaninemia: disaggregation of fetal brain ribosomes.
Topics: Animals; Brain; Brain Chemistry; Centrifugation, Density Gradient; Female; Fenclonine; Fetus; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Polyribosomes; Pregnancy; Rats; Tryptophan; Tyrosine | 1973 |
Behavioral effects of experimental maternal hyperphenylalaninemia.
Topics: Animals; Animals, Newborn; Avoidance Learning; Behavior, Animal; Disease Models, Animal; Exploratory Behavior; Female; Fenclonine; Fetus; Gestational Age; Humans; Maternal-Fetal Exchange; Motor Activity; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Reinforcement Schedule; Social Behavior | 1973 |
Experimental maternal hyperphenylalaninemia: biochemical effects and offspring development.
Topics: Aggression; Animals; Animals, Newborn; Body Weight; Brain; Brain Chemistry; Disease Models, Animal; Embryonic and Fetal Development; Female; Fenclonine; Growth; Humans; Maternal Behavior; Maternal-Fetal Exchange; Organ Size; Phenylalanine; Phenylketonurias; Pregnancy; Rats | 1974 |
Reduced activity in rats with induced phenylketonuria.
Topics: Animals; Body Weight; Diet; Eating; Exploratory Behavior; Fenclonine; Humans; Male; Motor Activity; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1972 |
Glycolysis in the brain and liver of rats with experimentally induced phenylketonuria.
Topics: Animals; Autoanalysis; Brain; Chromatography, Ion Exchange; Esculin; Female; Fenclonine; Glycolysis; Humans; Kinetics; Liver; Phenylalanine; Phenylketonurias; Pyruvate Kinase; Rats; Structure-Activity Relationship; Time Factors; Tyrosine | 1974 |
Control of liver and brain aromatic amino-acid metabolism by phenylalanine hydroxylase.
Topics: Animals; Brain; Brain Chemistry; Chemical Phenomena; Chemistry; Disease Models, Animal; Electrophoresis, Polyacrylamide Gel; Enzyme Induction; Enzyme Inhibitors; Fenclonine; Guinea Pigs; Humans; Kinetics; Liver; Mice; Molecular Biology; Mutation; Organ Culture Techniques; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Temperature | 1973 |
[Phenylketonuria. 3. Evaluation of early treatment].
Topics: Blood Proteins; Child, Preschool; Diet Therapy; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Phosphoric Monoester Hydrolases; Tryptophan; Tyrosine | 1969 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Is the inhibition of glutamic-pyruvic transaminase by phenylalanine one of the causes of hypoglucosemia in phenylketonurics?
Topics: Alanine; Alanine Transaminase; Blood Glucose; Fasting; Gluconeogenesis; Humans; Liver; Liver Extracts; NAD; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1973 |
Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.
Topics: Humans; Infant, Newborn; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Transaminases; Tyrosine Transaminase | 1966 |
Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
Topics: Carbon Isotopes; Enzyme Induction; Humans; Kinetics; Liver; Lysophosphatidylcholines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; Tyrosine; Tyrosine 3-Monooxygenase | 1973 |
Recovery of rat brain from a brief hyperphenylalaninemic insult early in development.
Topics: Age Factors; Animals; Body Weight; Brain; Disease Models, Animal; DNA; Growth Disorders; Humans; Lipid Metabolism; Nerve Tissue Proteins; Organ Size; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; RNA | 1974 |
Phenylketonemia in phenylketonuria.
Topics: Adolescent; Adult; Animals; Biopsy; Brain; Child; Child, Preschool; Diet Therapy; Female; Heterozygote; Humans; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1974 |
Psychological evaluation of treatment in phenylketonuria: intellectual, motor and social development.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Diet Therapy; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Motor Skills; Phenylalanine; Phenylketonurias; Psychological Tests; Social Behavior | 1974 |
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine | 1974 |
Hypophosphatasia with phenylketonuria.
Topics: Alkaline Phosphatase; Ethanolamines; Humans; Hypophosphatasia; Infant; Male; Phenylalanine; Phenylketonurias | 1974 |
Intestinal transport of aromatic amino acids, glucose and electrolytes in a patient with phenylketonuria.
Topics: Adult; Biological Transport; Female; Glucose; Humans; Intestinal Mucosa; Male; Molecular Weight; Phenylalanine; Phenylketonurias; Polyethylene Glycols; Potassium; Sodium; Time Factors; Tryptophan; Tyrosine | 1974 |
Quantitative studies on the urinary excretion of unconjugated aromatic acids in phenylketonuria.
Topics: Adolescent; Adult; Carboxylic Acids; Child; Child, Preschool; Diet; Fasting; Female; Follow-Up Studies; Granulocytes; Humans; Infant; Infant, Newborn; Lactates; Male; Mandelic Acids; Phenols; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Probability; Time Factors; Tyrosine | 1974 |
Thermoregulation of phenylketonuric children.
Topics: Adolescent; Body Temperature Regulation; Child, Preschool; Female; Fever; Humans; Hydroxyindoleacetic Acid; Infant; Male; Oxygen Consumption; Phenols; Phenylalanine; Phenylketonurias; Shivering; Skin; Skin Temperature; Sweating; Typhoid-Paratyphoid Vaccines | 1974 |
Letter: Dietary phenylalanine requirements in infants with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Nutritional Physiological Phenomena; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1974 |
Gas-liquid chromatography of phenylalanine metabolites in urine and sera of hyperphenylalaninemic and phenylketonuric patients.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, Gas; Humans; Hydrogen-Ion Concentration; Lactates; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors; Tyrosine | 1974 |
[The problem of hyperphenylalaninemias (author's transl)].
Topics: Child, Preschool; Female; Humans; Phenylalanine; Phenylketonurias | 1974 |
Phenylalaninaemia. Differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Diagnosis, Differential; Diet Therapy; Dietary Proteins; Electroencephalography; Humans; Infant, Newborn; Mass Screening; Methods; Phenylacetates; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1974 |
Maternal phenylketonuria: a family with seven mentally retarded siblings.
Topics: Abnormalities, Multiple; Birth Weight; Dwarfism; Electroencephalography; Female; Humans; Intellectual Disability; Intelligence; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tetralogy of Fallot | 1974 |
[Development of children diagnosed at the maternity hospital using Guthrie's method in comparison with children diagnosed later and children untreated].
Topics: Child, Preschool; Follow-Up Studies; Growth; Hospitals, Maternity; Hospitals, Special; Humans; Phenylalanine; Phenylketonurias; Time Factors | 1974 |
[2 cases of phenylketonuria].
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1974 |
The Guthrie test for phenylketonuria and allied diseases in Scotland 1965-1973.
Topics: Costs and Cost Analysis; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Scotland | 1974 |
Aromatic acid excretion in classical phenylketonuria and hyperphenylalaninemic variants.
Topics: Administration, Oral; Ascorbic Acid; Chromatography, Gas; Female; Hippurates; Humans; Male; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Stimulation, Chemical | 1974 |
Proceedings: New aspects of tryptophan metabolism in untreated phenylketonuria and the urinary indole excretion in relation to phenylalanine content of semi-synthetic diets.
Topics: Diet; Humans; Indoles; Phenylalanine; Phenylketonurias; Tryptophan | 1974 |
[Value of the assay of urine ortho-hydroxyphenylacetic acid in hyperphenylalaninemia].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Thin Layer; Creatinine; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1974 |
Microanalysis with 14-C-dansyl chloride of amino acids and amines in the cerebrospinal fluid of patients with phenylketonuria. III. Analysis of amino acids after loading with L-phenylalanine.
Topics: Amines; Amino Acids; Autoradiography; Child; Child, Preschool; Dansyl Compounds; Humans; Infant; Methods; Phenylalanine; Phenylketonurias; Spectrophotometry, Ultraviolet | 1974 |
Children with phenylketonuria: crisis prevention or crisis intervention?
Topics: Adaptation, Psychological; Child Development; Crisis Intervention; Family; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Public Health Nursing | 1974 |
New concepts in ultramicro analytic systems for the '70s.
Topics: Autoanalysis; Blood Chemical Analysis; Blood Specimen Collection; Fluorometry; Forecasting; Humans; Infant, Newborn; Microchemistry; Phenylalanine; Phenylketonurias; Time Factors | 1972 |
The enduring behavioral changes in rats with experimental phenylketonuria.
Topics: Age Factors; Animals; Avoidance Learning; Behavior, Animal; Brain; Cataract; Cerebellum; Conditioning, Operant; Disease Models, Animal; Female; Humans; Learning Disabilities; Male; Motor Activity; Myelin Sheath; Organ Size; Phenylalanine; Phenylketonurias; Rats; Time Factors | 1974 |
[Urinary excretion of 5-hydroxyindoleacetic acid. II. In children with phenylketonuria, effects of 5-hydroxytryptophan].
Topics: 5-Hydroxytryptophan; Administration, Oral; Child, Preschool; Female; Humans; Hydroxyindoleacetic Acid; Infant; Injections, Intravenous; Intestinal Absorption; Male; Phenylalanine; Phenylketonurias | 1973 |
Serotonin deficiency in experimental hyperphenylalaninemia.
Topics: 5-Hydroxytryptophan; Animals; Biphenyl Compounds; Brain; Carbon Radioisotopes; Carboxy-Lyases; Dopa Decarboxylase; Female; Humans; Hydroxyindoleacetic Acid; Oxazoles; Pargyline; Phenethylamines; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxal; Pyridoxamine; Pyridoxine; Rats; Serotonin; Spectrometry, Fluorescence; Time Factors; Tritium | 1974 |
Microanalysis with 14-C-dansyl chloride of amino acids and amines in the cerebrospinal fluid of patients with phenylketonuria. II. Determination of 5-hydroxyindole derivatives after loading with L-phenylalanine.
Topics: 5-Hydroxytryptophan; Amines; Amino Acids; Autoradiography; Carbon Radioisotopes; Child; Child, Preschool; Dansyl Compounds; Humans; Hydroxyindoleacetic Acid; Hydroxylation; Infant; Methods; Microchemistry; Phenylalanine; Phenylketonurias; Serotonin | 1974 |
Possible biochemical model for phenylketonuria.
Topics: Animals; Brain; Humans; Liver; Models, Biological; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Rats; Tissue Extracts | 1972 |
[Problems in the detection of hereditary diseases studied in the light of frequent examples].
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography; Clinical Enzyme Tests; Escherichia coli; Fluorometry; Genetic Diseases, Inborn; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Urine | 1972 |
Analysis of phenylethylamines in biological tissues by gas-liquid chromatography with electron-capture detection.
Topics: Alcohols; Amines; Animals; Benzyl Compounds; Brain Chemistry; Chemical Phenomena; Chemistry; Chlorine; Chromatography, Gas; Humans; Hydrolysis; Liver; Methods; Microchemistry; Nitrobenzenes; Normetanephrine; Octopamine; Pargyline; Phenethylamines; Phenylalanine; Phenylketonurias; Rats; Silicon; Solubility; Sulfonic Acids; Tyramine | 1972 |
[Reticulosarcoma-like skin lesions in phenylketonuria (author's transl)].
Topics: Child; Diagnosis, Differential; Humans; Lymphoma, Non-Hodgkin; Male; Phenylalanine; Phenylketonurias; Skin; Skin Diseases; Skin Neoplasms | 1974 |
Impairment of hepatic pyruvate metabolism in phenylketonuria.
Topics: Animals; Child; Culture Media; Haplorhini; Humans; In Vitro Techniques; Kinetics; Lactates; Liver; Male; Mitochondria, Liver; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvate Carboxylase; Pyruvate Dehydrogenase Complex; Pyruvates; Rats; Rats, Inbred Strains | 1974 |
The effect of phenylpyruvate on pyruvate metabolism in rat brain.
Topics: Animals; Bicarbonates; Brain; Carbon Isotopes; Culture Media; Freeze Drying; Humans; In Vitro Techniques; Kinetics; Ligases; Male; Mitochondria; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Rats | 1972 |
The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain.
Topics: Adolescent; Adult; Amino Acids; Brain; Catecholamines; Chromatography; Dopamine; Humans; Hydroxyindoleacetic Acid; Norepinephrine; Phenylacetates; Phenylalanine; Phenylketonurias; Probenecid; Serotonin; Tryptophan; Tyrosine | 1972 |
[Amino acids in the intestinal fluid in a subject with high blood phenylalanine. Comparative study with a control group].
Topics: Amino Acids; Child, Preschool; Chromatography, Ion Exchange; Duodenum; Humans; Infant; Infant, Newborn; Intestinal Secretions; Intubation, Gastrointestinal; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
Some observations on the blood levels of phenylalanine in dilute mice and a comparison between human phenylketonuria and the disease of mice homozygous for the dilute lethal gene.
Topics: Age Factors; Animals; Chromosome Aberrations; Chromosome Disorders; Disease Models, Animal; Drug Tolerance; Female; Genes, Lethal; Homozygote; Humans; Male; Metabolic Clearance Rate; Mice; Phenylalanine; Phenylketonurias; Sex Factors; Time Factors | 1972 |
Pathogenesis of phenylketonuria: inhibition of DOPA and catecholamine synthesis in patients with phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Catecholamines; Catechols; Child; Child, Preschool; Deuterium; Dihydroxyphenylalanine; Dopamine; Glycols; Homovanillic Acid; Humans; Mass Spectrometry; Phenylalanine; Phenylketonurias; Tyrosine; Vanilmandelic Acid | 1972 |
[Diagnostic and therapeutic problems of phenylketonuria. Parallel study of 2 familial cases as a function of treatment].
Topics: Child, Preschool; Chromatography, DEAE-Cellulose; Diet Therapy; Humans; Infant; Male; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
Phenylketonuria: reduction of serum levels of phenylalanine following oral administration of B-2 thienylalanine.
Topics: Administration, Oral; Adolescent; Adult; Aged; Amino Acids; Humans; Middle Aged; Phenylalanine; Phenylketonurias | 1972 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines; Tetrahydrofolate Dehydrogenase | 1972 |
Experimental hyperphenilalanaemia and the thyroid gland.
Topics: Animals; Diet; Female; Humans; Phenylalanine; Phenylketonurias; Rats; Thyroid Gland | 1972 |
[2 new cases of microcephalic children with intrauterine growth retardation born of phenylketonuric mothers].
Topics: Birth Weight; Chromatography, Ion Exchange; Female; Growth Disorders; Humans; Infant; Male; Mental Disorders; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1972 |
[Karyometric study of thyroid follicular cells in phenylketonuric animals].
Topics: Animals; Cell Nucleus; Female; Humans; Infant, Newborn; Karyometry; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Thyroid Gland; Time Factors | 1972 |
PKU testing in Omaha-Douglas County.
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Nebraska; Phenylalanine; Phenylketonurias | 1972 |
[Differential diagnosis of hyperphenylalaninaemia (author's transl)].
Topics: Age Factors; Diagnosis, Differential; Follow-Up Studies; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1972 |
[Proceedings: Tryptophan metabolism in untreated phenylketonuria and in vitamin B6 dependent cramps].
Topics: 3-Hydroxyanthranilic Acid; Adolescent; Adult; Carboxylic Acids; Child; Child, Preschool; Humans; Hydroxyquinolines; Intellectual Disability; Kynurenic Acid; Kynurenine; Muscle Cramp; Nicotinic Acids; Phenylalanine; Phenylketonurias; Tryptophan; Vitamin B 6 Deficiency; Xanthurenates | 1972 |
Large-scale investigation of 2 phenylketonuria screening methods and factors affecting blood phenylalanine levels in the newborn.
Topics: Birth Weight; False Positive Reactions; Female; Fluorometry; Humans; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylketonurias; Residence Characteristics | 1973 |
Phenylketonuria testing in Australia. Sex ratio.
Topics: Age Factors; Australia; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Factors | 1973 |
Pyruvate metabolism by homogenates of human brain: effects of phenylpyruvate and implications for the etiology of the mental retardation in phenylketonuria.
Topics: Bicarbonates; Brain; Carbon Isotopes; Decarboxylation; Humans; In Vitro Techniques; Intellectual Disability; Ketone Oxidoreductases; Ligases; Mitochondria; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates | 1973 |
[EEG-records for indicating the termination of dietary treatment in phenylketonuria?].
Topics: Brain Damage, Chronic; Child; Child Development; Child, Preschool; Diet Therapy; Electroencephalography; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1973 |
Normal development in an infant of a mother with phenylketonuria.
Topics: Black People; Child Development; Female; Humans; Infant; Intelligence; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Pregnancy Complications; Tyrosine | 1973 |
Effects of oral contraceptives and obesity on carrier tests for phenylketonuria.
Topics: Adult; Contraceptives, Oral; Fasting; Female; Heterozygote; Humans; Menstruation; Middle Aged; Obesity; Ovulation; Phenylalanine; Phenylketonurias; Pregnancy; Temperature; Time Factors; Tyrosine | 1973 |
Phenylketonuria in children in special and remedial classes. A survey in Perth.
Topics: Australia; Biological Assay; Child; Dyslexia; Humans; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1973 |
The Guthrie test and skin cleansing.
Topics: Anti-Infective Agents, Local; Biguanides; Biological Assay; False Negative Reactions; Hexachlorophene; Humans; Infant, Newborn; Ointments; Phenylalanine; Phenylketonurias; Skin | 1973 |
Behavioral consequences of increased phenylalanine intake by phenylketonuric children: a pilot study describing a methodology.
Topics: Child Behavior; Child, Preschool; Diet Therapy; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pilot Projects | 1973 |
Presciptive screening for inborn errors of metabolism: a critique.
Topics: Diagnosis, Differential; Diet Therapy; Evaluation Studies as Topic; False Positive Reactions; Heterozygote; Humans; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1973 |
Increased free phenylalanine in the milk of a phenylketonuric mother.
Topics: Autoanalysis; Female; Humans; Lysine; Methods; Milk, Human; Phenylalanine; Phenylketonurias | 1973 |
Phenylalanine loading and aromatic acid excretion in normal subjects and heterozygotes for phenylketonuria.
Topics: Adult; Child; Chromatography, Gas; Drug Tolerance; Female; Heterozygote; Humans; Male; Mass Spectrometry; Pedigree; Phenylacetates; Phenylalanine; Phenylketonurias; Prednisolone; Time Factors; Tyrosine | 1973 |
[Blood histidine and phenylketonuria from the standpoint of the speech therapist].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Speech Disorders; Time Factors | 1973 |
Measurement of phenylalanine in routine care of phenylketonuric children.
Topics: Biological Assay; Child; Chromatography, Ion Exchange; Chromatography, Paper; Erythrocytes; Fluorometry; Humans; Phenylalanine; Phenylketonurias | 1973 |
Unrecognized adult phenylketonuria. Implications for obstetrics and psychiatry.
Topics: Adult; Child; Chlorides; Female; Heterozygote; Humans; Intellectual Disability; Intelligence; Iron; Male; Middle Aged; Pedigree; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Pregnancy Complications; Psychotic Disorders | 1973 |
Report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia.
Topics: Autoanalysis; Fluorometry; Glutamates; Humans; Infant, Newborn; Infant, Premature; Microbial Sensitivity Tests; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Analysis of the "report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia" and the significance of this study in the detection, diagnosis, and management of p
Topics: Age Factors; Autoanalysis; Diet Therapy; Fluorometry; Glutamates; Glutamine; Humans; Infant Nutrition Disorders; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Quality Control; Tyrosine | 1973 |
Risk of fetal damage in maternal phenylketonuria.
Topics: Brain Damage, Chronic; Diet Therapy; Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1973 |
Screening for metabolic diseases in New South Wales.
Topics: Australia; Biological Assay; Chromatography, Paper; Cystathionine; Cystinuria; Female; Hartnup Disease; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Seasons | 1973 |
Urinary phenylalanine excretion in hyperphenylalaninemic children.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Increased "reproductive casualty" in heterozygotes for phenylketonuria.
Topics: Abortion, Spontaneous; Birth Weight; Delivery, Obstetric; Embryonic and Fetal Development; Female; Fetal Death; Heterozygote; Humans; Infant Mortality; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Labor Presentation; Male; Obstetric Labor Complications; Parity; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Uterine Hemorrhage | 1973 |
[Metabolic management and intelligence development in phenylketonuria].
Topics: Age Factors; Child; Child Development; Child, Preschool; Diet Therapy; Humans; Infant; Intelligence; Phenylalanine; Phenylketonurias; Time Factors | 1973 |
[Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].
Topics: Germany, East; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias | 1973 |
Saturation of blood brain barrier transport of amino acids in phenylketonuria.
Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine | 1973 |
Phenylketonuria: phenylalanine inhibits brain pyruvate kinase in vivo.
Topics: Adenosine Diphosphate; Adenosine Triphosphate; Animals; Brain; Brain Chemistry; Citrates; Fructosephosphates; Glucose; Glucosephosphates; Glutarates; Glycerophosphates; Glycolysis; Humans; Injections, Intraperitoneal; Lactates; Malates; Phenylalanine; Phenylketonurias; Phosphocreatine; Pyruvate Kinase; Pyruvates; Rats | 1973 |
Anomalous phenylalanine loading responses in relation to cleft lip and cleft palate.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Chromosomes, Human, 13-15; Cleft Lip; Cleft Palate; Female; Humans; Infant, Newborn; Karyotyping; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Trisomy; Tyrosine | 1973 |
Neuronal lesions in the cerebellum following the administration of excess phenylalanine to neonatal rats.
Topics: Animals; Animals, Newborn; Axons; Cerebellum; Cytoplasm; Cytoplasmic Granules; Disease Models, Animal; Female; Humans; Liver; Myelin Sheath; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Purkinje Cells; Rats; Tyrosine | 1973 |
Effect of feeding on screening for PKU in infants.
Topics: Age Factors; Animals; Breast Feeding; False Negative Reactions; Follow-Up Studies; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Milk; Milk, Human; Phenylalanine; Phenylketonurias; Time Factors | 1973 |
[Problems with diet in phenylketonuria].
Topics: Diet Therapy; Growth; Humans; Infant; Phenylalanine; Phenylketonurias | 1973 |
[Sweat phenylalanine concentration in healthy and phenylketonuric subjects].
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Iontophoresis; Phenylalanine; Phenylketonurias; Pilocarpine; Sweat | 1973 |
Serum lipids in children with phenylketonuria (PKU).
Topics: Acetyl Coenzyme A; Adolescent; Child; Child, Preschool; Cholesterol; Diet Therapy; Dietary Carbohydrates; Dietary Fats; Dietary Proteins; Esters; Fatty Acids; Fatty Acids, Unsaturated; Humans; Infant; Lipid Metabolism; Lipids; Phenylalanine; Phenylketonurias; Phospholipids; Sterols; Triglycerides | 1973 |
[Hyperphenylalaninemia in the neonatal period].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Diet; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy | 1973 |
[Results of screening and early treatment of phenylketonuria in the GDR (German Democratic Republic)].
Topics: Diet Therapy; Germany, East; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1973 |
[Phenylalanine deficiency syndrome. Case report].
Topics: Child, Preschool; Diet Therapy; Humans; Male; Phenylalanine; Phenylketonurias | 1973 |
Classic phenylketonuria: heterozygote detection during pregnancy.
Topics: Adolescent; Adult; Analysis of Variance; Female; Genetic Counseling; Genotype; Heterozygote; Homozygote; Humans; Infant, Newborn; Male; Mathematics; Microchemistry; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1973 |
[Phenylalanine concentration in the cerebrospinal fluid and blood, both entering and leaving the brain, of phenylketonuria patients].
Topics: Adolescent; Adult; Age Factors; Arteries; Blood-Brain Barrier; Brain; Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Jugular Veins; Male; Phenylalanine; Phenylketonurias | 1973 |
The determination of phenylalanine in serum by mass fragmentography.
Topics: Chromatography, Gas; Computers; Evaluation Studies as Topic; Humans; Mass Spectrometry; Methods; Microchemistry; Phenylalanine; Phenylketonurias | 1973 |
Heterozygous carriers in the relatives of a case of phenylketonuria.
Topics: Computers; Female; Heterozygote; Humans; Male; Mathematics; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
The factor analytic, logarithmic and optimum solutions in separating heterozygous carriers and normal control subjects in phenylketonuria.
Topics: Factor Analysis, Statistical; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Relation between granulocyte phenylalanine content and degree of neuropsychiatric disability in phenylketonuria.
Topics: Humans; Leukocytes; Nervous System Diseases; Phenylalanine; Phenylketonurias | 1973 |
Genetic screening: notes added in proof.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates | 1973 |
[Intravenous loading of L-phenylalanine: detection of heterozygotes in phenylketonuria].
Topics: Heterozygote; Humans; Injections, Intravenous; Phenylalanine; Phenylketonurias; Statistics as Topic | 1973 |
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Impaired glucose homeostasis in phenylketonurics.
Topics: Adolescent; Blood Glucose; Brain Diseases; Child; Child, Preschool; Glucose; Glucose Tolerance Test; Homeostasis; Humans; Hypoglycemia; Infant; Intellectual Disability; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Starvation; Time Factors | 1973 |
PKU in Bohemia.
Topics: Child, Preschool; Czechoslovakia; Electroencephalography; Evaluation Studies as Topic; Follow-Up Studies; Humans; Infant; Infant, Newborn; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Psychological Tests | 1973 |
Austria newborn screening programme for inborn errors of metabolism.
Topics: Austria; Female; Galactosemias; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sex Factors | 1973 |
Semi-automation of the Guthrie test for phenylketonuria.
Topics: Automation; Biological Assay; Humans; Phenylalanine; Phenylketonurias; Time Factors | 1973 |
A study of phenylketonuric sibs.
Topics: Abortion, Spontaneous; Chromatography, Paper; Epilepsy; Female; Gene Frequency; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy | 1973 |
A relationship between the granulocyte phenylalanine content and the degree of disability in phenylketonuria.
Topics: Activities of Daily Living; Adolescent; Adult; Child; Female; Granulocytes; Humans; Intelligence; Intelligence Tests; Leukocytes; Male; Middle Aged; Mutism; Phenylalanine; Phenylketonurias | 1973 |
[Investigations on the behaviour of tryptophan in children with phenylketonuria (author's transl)].
Topics: Administration, Oral; Adolescent; Age Factors; Child; Child, Preschool; Chromatography, Paper; Diet Therapy; Humans; Infant; Intestinal Absorption; Phenylalanine; Phenylketonurias; Tryptophan | 1973 |
Letter: Management of women with phenylketonuria.
Topics: Female; Genetic Counseling; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy | 1974 |
The use of biochemical data in screening for mutant alleles and in genetic counselling.
Topics: Alleles; Genetic Counseling; Heterozygote; Hexosaminidases; Hot Temperature; Humans; Lipidoses; Molecular Biology; Mutation; Phenylalanine; Phenylketonurias; Probability; Tyrosine | 1974 |
Neonatal screening for phenylketonuria. II. Age dependence of initial phenylalanine in infants with PKU.
Topics: Age Factors; Female; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Ontario; Phenylalanine; Phenylketonurias; Quebec; Time Factors; United States | 1974 |
[Phenylketonuria screening tests in Hungary].
Topics: Child, Preschool; Diet Therapy; Female; Humans; Hungary; Infant; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Neurologic Manifestations; Phenylalanine; Phenylketonurias | 1974 |
Letter: Screening for phenylketonuria.
Topics: Diet; Female; Heterozygote; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy | 1974 |
Fluorometric measurement of tyrosine in serum and plasma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Blood Proteins; Child; Child, Preschool; Drug Stability; Evaluation Studies as Topic; Humans; Infant; Infant, Newborn; Infant, Premature; Methods; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence; Temperature; Time Factors; Tyrosine | 1974 |
[Letter: Diagnosis of Folling's disease].
Topics: Age Factors; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Reagent Strips | 1974 |
[Experiences with diagnosis and treatment of phenylketonuria].
Topics: Diagnosis, Differential; Diet Therapy; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1974 |
[A screening test for phenylketonuria using a paper chromatography method].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias | 1974 |
[Prolonged phenylalanine load].
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Tyrosine | 1974 |
[Does phenylalanine load disclose genetic variants?].
Topics: Female; Genotype; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1974 |
[In vivo studies of phenylalanine metabolism].
Topics: Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1974 |
[Treatment with phenylalanine restricted diet--nutritional and metabolic aspects].
Topics: Child; Child, Preschool; Diet Therapy; Dietary Carbohydrates; Dietary Proteins; Humans; Infant; Infant, Newborn; Minerals; Nitrogen; Phenylalanine; Phenylketonurias; Vitamins | 1974 |
[Diet treatment of PKU children in Sweden].
Topics: Amino Acids; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Sweden; Vitamins | 1974 |
[Centralized PKU treatment in Denmark].
Topics: Child; Child, Preschool; Denmark; Diet Therapy; Hospitals, Special; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Psychological Tests; Tyrosine | 1974 |
Baby of a phenylketonuric mother. Inferences drawn from a single case.
Topics: Brain Damage, Chronic; Child, Preschool; Diet Therapy; Female; Fetus; Humans; Intelligence; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1974 |
Phenylketonuria.
Topics: Child, Preschool; Eczema; Humans; Male; Neurologic Examination; Phenylalanine; Phenylketonurias | 1974 |
Neonatal screening for phenylketonuria. IV. Factors influencing the occurrence of false positives.
Topics: Age Factors; Birth Weight; False Positive Reactions; Humans; Infant, Newborn; Ontario; Phenylalanine; Phenylketonurias; Public Health Administration; Quebec; Racial Groups; Tyrosine; United States; White People | 1974 |
Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria.
Topics: Chromatography, Gas; Heterozygote; Humans; Mandelic Acids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors; Tyrosine | 1974 |
Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Female; Homovanillic Acid; Humans; Infant; Infant, Newborn; Male; Mandelic Acids; Mass Spectrometry; Phenols; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpropionates; Phenylpyruvic Acids | 1974 |
Letter: Frequency of some metabolic disorders in Poland.
Topics: Biological Assay; Galactosemias; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Poland; Tyrosine | 1974 |
Letter: Urinary phenylalanine excretion in phenylketonuria and hyperphenylalaninemia.
Topics: Creatinine; Diet; Humans; Kidney; Phenylalanine; Phenylketonurias; Time Factors | 1974 |
Neonatal screening for phenylketonuria. 3. Altered sex ratio; extent and possible causes.
Topics: Age Factors; Female; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Phenylalanine; Phenylketonurias; Public Health Administration; Regression Analysis; Sex Factors; Surveys and Questionnaires; United States | 1974 |
The role of heterozygosity of women with respect to the phenylketonuria gene in the origin of spontaneous abortions and disturbances of intrauterine fetal development.
Topics: Abortion, Spontaneous; Bone and Bones; Chromatography, Paper; Congenital Abnormalities; Female; Fetal Diseases; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Pregnancy | 1974 |
[Attempted physiopathologic interpretation of phenylketonuria (PKU)].
Topics: Brain; Citric Acid Cycle; Humans; Hydroxylation; Mitochondria; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1974 |
[Early detection of inborne errors of metabolism in Switzerland: the problems of hyperphenylanalinemia (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Switzerland; Time Factors | 1974 |
The isolation and properties of phenylalanine hydroxylase from human liver.
Topics: Adult; Animals; Cattle; Centrifugation, Density Gradient; Chelating Agents; Chromatography, DEAE-Cellulose; Chromatography, Gel; Copper; Electrophoresis, Polyacrylamide Gel; Fetus; Fluorine; Humans; Infant, Newborn; Iron; Kinetics; Liver; Molecular Weight; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Sodium Dodecyl Sulfate; Sulfides | 1974 |
Cookie for a low-phenylalanine diet.
Topics: Cooking; Diet Therapy; Food Analysis; Humans; Phenylalanine; Phenylketonurias | 1974 |
Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.
Topics: Biopsy; Diet Therapy; Humans; Liver; Movement Disorders; Nervous System Diseases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Social Behavior | 1974 |
[Mass screening of phenylketonuria. Report on a screening center (October 1967-December 1968)].
Topics: Adolescent; Adult; Amino Acids; Bacteriological Techniques; Child; Child, Preschool; Chromatography, Paper; Fluorometry; France; Homocystinuria; Humans; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Sampling Studies; Tyrosine | 1969 |
Evaluation studies resulting in the standardization of the bacterial inhibition assay for blood phenylalanine.
Topics: Agar; Bacteriological Techniques; Biological Assay; Blood Specimen Collection; False Positive Reactions; Filtration; Humans; Indicators and Reagents; Infant, Newborn; Methods; Paper; Phenylalanine; Phenylketonurias; Specimen Handling | 1969 |
[Isotope use in the study of hereditary metabolic diseases].
Topics: Animals; Autoradiography; Blood Glucose; Brain Chemistry; Carbon Isotopes; Chromatography, Paper; Deficiency Diseases; Feces; Galactose; Glucokinase; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Malabsorption Syndromes; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Radioisotope Dilution Technique; Radioisotopes; Rats; Tritium | 1970 |
[Experimental investigations on the microbial screening test according to Guthrie for the early detection of phenylketonurial].
Topics: Amino Acids; Bacillus subtilis; Culture Media; Diet; Dihydroxyphenylalanine; Humans; In Vitro Techniques; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1965 |
[Metabolism and function of the nervous system].
Topics: Animals; Blood; Brain; Haplorhini; Humans; In Vitro Techniques; Phenylalanine; Phenylketonurias; Rabbits; Rats; Synapses; Urine | 1965 |
[Studies on experimental phenylketonuria in rats and monkeys].
Topics: Animals; Haplorhini; Humans; Phenylalanine; Phenylketonurias; Rats | 1965 |
Electroencephalographic abnormalities in phenylpyruvic oligophrenia.
Topics: Adolescent; Adult; Cerebral Cortex; Child; Child, Preschool; Electroencephalography; Epilepsy, Absence; Female; Humans; Intellectual Disability; Light; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta).
Topics: Amino Acids; Animals; Animals, Newborn; Birth Weight; Diet; Female; Fetal Diseases; Haplorhini; Humans; Intellectual Disability; Learning; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Serine; Tyrosine | 1968 |
The pharmacology of para-chlorophenylalanine, a selective depletor of serotonin stores.
Topics: Animals; Behavior, Animal; Body Temperature; Brain; Dogs; Haplorhini; Humans; Liver; Male; Mixed Function Oxygenases; Norepinephrine; Pargyline; Phenylalanine; Phenylketonurias; Rats; Serotonin; Sleep; Spleen; Tryptophan | 1968 |
Screening tests for phenylketonuria.
Topics: Bacillus subtilis; Diet Therapy; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Present status of different mass screening procedures for phenylketonuria. Medical Research Council Working Party on phenylketonuria.
Topics: Age Factors; Bacillus subtilis; Blood Specimen Collection; Brain Damage, Chronic; Chromatography, Paper; Heel; Humans; Infant; Infant, Newborn; Intellectual Disability; Mandelic Acids; Mass Screening; Methods; Phenylacetates; Phenylalanine; Phenylketonurias; United Kingdom | 1968 |
The effect of antibiotics on the results of the Guthrie test given to phenylketonuric patients.
Topics: Adolescent; Anti-Bacterial Agents; Bacillus subtilis; Child; Humans; Methods; Oxacillin; Phenylalanine; Phenylketonurias; Tetracycline | 1968 |
[Microbiological determination of phenylalanine in the blood in a group of oligophrenic children].
Topics: Bacillus subtilis; Biological Assay; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
The development of infant monkeys fed low phenylalanine diets.
Topics: Anemia; Animal Nutritional Physiological Phenomena; Animals; Dermatitis; Diet Therapy; Dietary Proteins; Edema; Growth; Haplorhini; Humans; Hypoproteinemia; Phenylalanine; Phenylketonurias; Protein Deficiency | 1969 |
Detection of phenylketonuria carriers.
Topics: Female; Genetics, Medical; Humans; Male; Mass Screening; Methods; New York; Phenylalanine; Phenylketonurias; Sampling Studies; Tyrosine | 1969 |
Renal amino acid reabsorption in hyperphenylalaninemic monkeys infused with beta-2-thienylalanine.
Topics: Amino Acids; Animals; Blood Specimen Collection; Haplorhini; Humans; Kidney Tubules; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
[Control of the serum phenylalanine level in the diet therapy of phenylketonuria].
Topics: Bacillus subtilis; Bacteriological Techniques; Chromatography; Culture Media; Diet Therapy; Humans; Methods; Phenylalanine; Phenylketonurias | 1971 |
Technology of a regional Guthrie test service.
Topics: Agar; Bacillus subtilis; Biological Assay; Blood Specimen Collection; England; Humans; Infant; London; Mass Screening; Medical Records; Methods; Paper; Phenylalanine; Phenylketonurias | 1971 |
Estimation of blood phenylalanine from a dried blood spot using the Guthrie test.
Topics: Bacillus subtilis; Biological Assay; Culture Media; Hot Temperature; Humans; Infant; Methods; Paper; Phenylalanine; Phenylketonurias | 1971 |
[Routine early diagnosis of phenylketonuria using the Guthrie test in the GDR].
Topics: Berlin; Costs and Cost Analysis; Germany, East; Health Expenditures; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1971 |
Differential reinforcement of latency (DRL) in phenylketonuric monkeys.
Topics: Animals; Conditioning, Operant; Diet; Disease Models, Animal; Feeding Behavior; Female; Frustration; Haplorhini; Humans; Macaca; Phenylalanine; Phenylketonurias; Pregnancy; Reaction Time; Reinforcement, Psychology; Reward | 1970 |
Biochemical approaches to the nosology of nervous system defects, III.
Topics: Ammonia; Biopsy; Brain; Brain Chemistry; Brain Diseases; Cells, Cultured; Chromatography; Fabry Disease; Humans; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipidoses; Lipids; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence | 1971 |
[Biochemistry of phenylketonuria].
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
[Therapy of phenylketonuria].
Topics: Diet Therapy; Humans; Methionine; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1972 |
[Unreported symptoms of phenylketonuric osteodystrophy].
Topics: Bone Diseases; Bone Diseases, Developmental; Diagnosis, Differential; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias; Rickets | 1972 |
American Academy of Pediatrics Committee on Children with Handicaps: phenylketonuria and the phenylalaninemias of infancy.
Topics: Child; Humans; Phenylalanine; Phenylketonurias | 1972 |
What is the best age to discontinue the low phenylalanine diet in phenylketonuria? A presentation of some contributory data.
Topics: Adolescent; Age Factors; Behavior; Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Intelligence Tests; Male; Methods; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine; Visual Perception | 1972 |
Persistent hyperphenylalaninemia.
Topics: Age Factors; Body Weight; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Deuterium; Humans; Hydroxylation; Infant; Lactates; Mass Spectrometry; Methods; Phenols; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1972 |
Amniotic fluid amino acids in maternal phenylketonuria.
Topics: Adult; Amino Acids; Amniotic Fluid; Diet Therapy; Female; Gestational Age; Humans; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1972 |
Problems in the biochemical detection of heterozygotes for phenylketonuria.
Topics: Autoanalysis; Chromatography, Ion Exchange; Female; Heterozygote; Humans; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1972 |
Hyperphenylalaninemia or phenylketonuria (PKU)? Problems of early distinction in 15 and 34 cases respectively.
Topics: Age Factors; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1972 |
A rapid chromatographic determination of phenylalanine and tyrosine for phenylketonuria screening.
Topics: Autoanalysis; Buffers; Chromatography, Ion Exchange; Computers; Female; Humans; Indicators and Reagents; Infant, Newborn; Ion Exchange Resins; Male; Mass Screening; Methods; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
The problem of maternal phenylketonuria.
Topics: Animals; Diet Therapy; Female; Humans; Infant, Newborn; Intelligence Tests; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Premarital Examinations; Prenatal Care; Rats | 1972 |
[Amino acid metabolism and mental retardation].
Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionine; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxine | 1972 |
Incidence of phenylketonuria in British Columbia, 1950-1971.
Topics: Aneuploidy; British Columbia; Chromatography, Paper; Ethnicity; Female; Health Surveys; Humans; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias; Sex Factors | 1972 |
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine; Humans; Hyperlipidemias; Infant, Newborn; Mass Screening; Methionine; Midwifery; Phenylalanine; Phenylketonurias; Postal Service; Proline; Time Factors; Tyrosine; United Kingdom | 1972 |
[Studies on the frequencies of inborn errors of metabolism in Eastern and Western Austria].
Topics: Austria; Chromatography; Clinical Enzyme Tests; Galactosemias; Gene Frequency; Genetics, Population; Histidine; Humans; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Probability | 1972 |
[Phenylalanine hydroxylase activity in hyperphenyl-alaninemia and classical phenylketonuria].
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Liver; Male; Metabolic Diseases; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1972 |
Phenylketonuria and the obstetrician.
Topics: Abnormalities, Multiple; Abortion, Therapeutic; Adolescent; Adult; Birth Weight; Child; Child, Preschool; Diet Therapy; Eugenics; Family Planning Services; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Iowa; Mass Screening; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1972 |
[Current views concerning dietetic treatment of phenylketonuria].
Topics: Child; Child, Preschool; Diet Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1972 |
Diet therapy and other sources of influence on the outcome of children with phenylketonuria.
Topics: Age Factors; Child; Child Behavior; Child, Preschool; Diet Therapy; Educational Status; Family Characteristics; Female; Humans; Intelligence; Intelligence Tests; Male; Occupations; Phenylalanine; Phenylketonurias; Religion; Socioeconomic Factors | 1972 |
[Detection of heterozygotes of typical phenylketonuria].
Topics: Adult; Chromatography; Female; Heterozygote; Humans; Male; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
[Rapid separation of aromatic and ramified amino acids by chromatography on ion exchange columns. Application to the surveillance of leucinosis and hyperphenylalaninemia].
Topics: Amino Acids; Chromatography, Ion Exchange; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Methods; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1972 |
Screening tests for metabolic diseases.
Topics: Australia; Blood Chemical Analysis; Chromatography, Paper; Humans; Infant; Infant, Newborn; Mass Screening; Metabolic Diseases; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1972 |
[Phenylalanine content of honeys].
Topics: Amino Acids; Diet; Honey; Humans; Methods; Phenylalanine; Phenylketonurias | 1972 |
[Phenylketonuria. Diagnosis, principles of the dietetic treatment and practical applications].
Topics: Child Development; Diet Therapy; Humans; Infant; Infant Nutritional Physiological Phenomena; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis | 1972 |
Biological evaluation of a whey protein fraction, with special reference to its use as a phenylalanine-low protein source in the dietary treatment of PKU.
Topics: Amino Acids; Animal Nutritional Physiological Phenomena; Animals; Biological Assay; Body Weight; Cattle; Chemical Phenomena; Chemistry; Chickens; Diet Therapy; Dietary Proteins; Eggs; Elements; Humans; Male; Milk; Nitrogen; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Vitamins | 1972 |
Experimentally induced phenylketonuria. 4. Potential inhibitors of phenylalanine hydroxylase.
Topics: Alkylating Agents; Humans; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Structure-Activity Relationship | 1972 |
Stimulation of rat liver phenylalanine hydroxylase activity by derivatives of vitamin E.
Topics: Animals; Carbon Isotopes; Centrifugation; Humans; Kinetics; Liver; Male; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphoric Acids; Pteridines; Rats; Sodium Dodecyl Sulfate; Structure-Activity Relationship; Succinates; Tyrosine; Ultracentrifugation; Vitamin E | 1972 |
Effect of protein loading on blood phenylalanine levels in newborn infants.
Topics: Animals; Densitometry; Dietary Proteins; Female; Fluorometry; Humans; Infant Food; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Male; Milk; Phenylalanine; Phenylketonurias | 1972 |
Protein synthesis in human leucocytes. IV. Mutual inhibition of amino acid incorporation by amino acids in cell suspensions and cell-free systems.
Topics: Amino Acids; Blood Proteins; Cell Membrane; Cell-Free System; Humans; Leucine; Leukocytes; Palatine Tonsil; Phenylalanine; Phenylketonurias; Ribosomes; RNA, Messenger; RNA, Transfer; Tritium | 1972 |
Maternal hyperphenylalaninaemia in the normal and phenylketonuric mother and its influence on maternal plasma and fetal fluid amino acid concentrations.
Topics: Adult; Amino Acids; Amniotic Fluid; Female; Fetus; Humans; Hysterectomy; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1972 |
[Delayed intrauterine growth with microcephaly in 3 children born of a hyperphenylalaninemic mother].
Topics: Abortion, Spontaneous; Adult; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Fetal Diseases; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1972 |
[Diet therapy of phenylketonuria and its difficulties].
Topics: Child; Child, Preschool; Deficiency Diseases; Diet Therapy; Dietary Proteins; Food Analysis; Humans; Infant; Infant, Newborn; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1972 |
Hyperphenylalaninemia and pregnancy.
Topics: Child; Female; Humans; Intelligence Tests; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1972 |
[Child of a mother with hyperphenylalaninemia].
Topics: Autoanalysis; Female; Humans; Infant, Newborn; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1972 |
[Importance of the determination of urinary ortho-hydroxyphenyl-acetic acid in phenylketonutia].
Topics: Humans; Hydroxylation; Phenylacetates; Phenylalanine; Phenylketonurias | 1972 |
An automated gas chromatographic analysis of phenylalanine in serum.
Topics: Autoanalysis; Chromatography, Gas; Humans; Mathematics; Methods; Phenylalanine; Phenylketonurias | 1972 |
Brain uptake of selenomethionine Se 75. II. Reduced brain uptake of selenomethionine Se 75 in phenylketonuria.
Topics: Blood-Brain Barrier; Brain; Humans; Injections, Intravenous; Intellectual Disability; Methionine; Phenylalanine; Phenylketonurias; Radioisotopes; Radiometry; Selenium | 1971 |
Adequate phenylalanine intake for optimum growth and development in the treatment of phenylketonuria.
Topics: Age Factors; Aging; Body Height; Body Weight; Cephalometry; Child; Child Development; Child, Preschool; Diet Therapy; Dietary Proteins; Humans; Infant; Intelligence Tests; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1971 |
[Hyperphenylalaninemia with cerebral damage].
Topics: Brain Damage, Chronic; Child; Female; Glomerular Filtration Rate; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Mental retardation in four offspring of a hyperphenylalaninemic mother.
Topics: Adolescent; Adult; Child; Child Development; Diet; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care | 1971 |
Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.
Topics: Adult; Amino Acids; Amniotic Fluid; Chromatography; Congenital Abnormalities; Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1971 |
Phenylketonuria: a multidisciplinary approach to management.
Topics: Australia; Child; Diet Therapy; Dietary Proteins; Humans; Parents; Phenols; Phenylalanine; Phenylketonurias; Psychotherapy, Group | 1971 |
Phenylketonuria.
Topics: Child; Diet Therapy; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Pregnancy Complications | 1971 |
Guthrie test and fungal growth.
Topics: False Positive Reactions; Humans; Infant, Newborn; Mitosporic Fungi; Phenylalanine; Phenylketonurias | 1971 |
L-benzylalanine as a model amino acid for the study of accumulation diseases.
Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Humans; Male; Phenylalanine; Phenylbutyrates; Phenylketonurias; Rats | 1971 |
Placental transport of phenylalanine in the rat: maternal and fetal metabolism.
Topics: Animals; Diet Therapy; Fasting; Female; Fetus; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Placenta; Pregnancy; Pregnancy Complications; Rats | 1971 |
Detection of phenylketonuric heterozygotes.
Topics: Chromatography, Ion Exchange; Female; Heterozygote; Humans; Indicators and Reagents; Methods; Phenylalanine; Phenylketonurias; Population Surveillance; Pregnancy; Tyrosine | 1971 |
Nutritional management in phenylketonuria.
Topics: Amino Acids; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Diet Therapy; Dietary Proteins; Feeding Behavior; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1971 |
Effects of totally synthetic, low phenylalanine diet on adolescent phenylketonuric patients.
Topics: Adolescent; Amino Acids; Body Weight; Child; Child Behavior Disorders; Diet Therapy; Electroencephalography; Female; Growth; Humans; Male; Neurologic Manifestations; Phenylalanine; Phenylketonurias; Tyrosine; Vitamins | 1971 |
Plasma glutamine in a phenylketonuric family with normal and mentally defective members.
Topics: Adolescent; Adult; Electroencephalography; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1971 |
Phenylpyruvate and o-hydroxyphenylacetate in phenylketonuric urine.
Topics: Adolescent; Child; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Methods; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1971 |
Diagnosis and management of hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Experience with a screening service, using the Guthrie test, in the north-west and north-east metropolitan regions.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Homocystinuria; Humans; Infant; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Screening for phenylketonuria on a district hospital scale.
Topics: Biological Assay; Hospitals, General; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Management of hyperphenylalaninaemia (HPA) in Northern Ireland.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Diet Therapy; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Problems of phenylketonuria.
Topics: Child, Preschool; Chromatography, Thin Layer; Humans; Infant; Infant, Newborn; Mandelic Acids; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1971 |
[Phenylketonuria and hyperphenylalaninemia].
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1971 |
[The use of some recent methods for diagnosis of aminoacidopathy. Personal results].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Electrophoresis; Fanconi Syndrome; Humans; Hydroxyproline; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Urine | 1971 |
[Clinical problems of the genetic heterogeneity in hyperphenylalaninemias].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Diagnosis, Differential; Diet Therapy; Dietary Proteins; Electroencephalography; Female; Humans; Phenylalanine; Phenylketonurias; Protein Deficiency; Tyrosine | 1971 |
[Amino acid preparations with low phenylalanine contents].
Topics: Diet Therapy; Dietary Proteins; Humans; Phenylalanine; Phenylketonurias | 1971 |
Dietary treatment of adult patients with phenylketonuria.
Topics: Adult; Diet Therapy; Electroencephalography; Evaluation Studies as Topic; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Psychological Tests; Psychomotor Disorders; Time Factors; Tyrosine | 1971 |
The sex ratio in phenylketonuria and persistent hyperphenylalaninaemia.
Topics: Australia; Female; Humans; Infant, Newborn; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Sex Ratio | 1971 |
[Phenylketonuria detection].
Topics: Diet Therapy; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Concentration of phenylalanine in the blood serum of patients with various degrees of phenylketonuria.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Paper; Fasting; Female; Genes, Recessive; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 1971 |
Differential effects of hyperphenylalaninemia on the development of the brain in the rat.
Topics: Animals; Body Weight; Brain; Brain Chemistry; Cerebellum; Cerebral Cortex; Cholesterol; DNA; Humans; Lipoproteins; Myelin Sheath; Nerve Tissue Proteins; Organ Size; Phenylalanine; Phenylketonurias; Phospholipids; Rats; RNA | 1971 |
Amino acid transport and mental retardation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport; Brain; Brain Chemistry; Diet; Female; Fetus; Gestational Age; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Time Factors | 1971 |
The effects of L-phenylalanine and phenylpyruvate on glycolysis in rat cerebral cortex.
Topics: Adenosine Triphosphate; Age Factors; Animals; Animals, Newborn; Brain; Cerebral Cortex; Female; Glucose; Glycolysis; Hexosephosphates; Humans; L-Lactate Dehydrogenase; Lactates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Phosphoenolpyruvate; Pregnancy; Pyruvate Kinase; Pyruvates; Rats | 1971 |
The effects of phenylpyruvate and hyperphenylalaninemia on incorporation of (6- 3 H)glucose into macromolecules of slices of rat cerebral cortex.
Topics: Animals; Cerebral Cortex; Diet; DNA; Female; Fetus; Gestational Age; Glucose; Humans; Lipids; Macromolecular Substances; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Protein Biosynthesis; Proteins; Rats; Rats, Inbred Strains; RNA; Tritium | 1971 |
[Therapeutic results of early detected phenylketonuric children under diet therapy].
Topics: Age Factors; Child Development; Child, Preschool; Diet Therapy; Dietary Proteins; Follow-Up Studies; Germany, East; Growth; Humans; Infant; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1971 |
Microcephaly and mental retardation in offspring of a mother with phenylketonuria.
Topics: Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Microcephaly; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Seizures | 1971 |
Determination of urinary aromatic acids by gas chromatography. Results from healthy infants and from patients with phenylketonuria.
Topics: Child; Child, Preschool; Chromatography, Gas; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
[Case finding in and prevention of phenylketonuria].
Topics: Humans; Nursing; Phenylalanine; Phenylketonurias | 1968 |
The Guthrie test....
Topics: Humans; Nursing; Phenylalanine; Phenylketonurias | 1970 |
Behavioral effects of "phenylketonuria" in rats.
Topics: Animals; Animals, Newborn; Behavior, Animal; Dogs; Female; Humans; Male; Melatonin; Phenylalanine; Phenylketonurias; Swimming | 1967 |
Experience with a metabolic screening program. PKU testing in North Carolina.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; North Carolina; Phenylalanine; Phenylketonurias | 1967 |
Dental manifestations of phenylketonuria.
Topics: Adolescent; Adult; Anodontia; Child; Dental Enamel Hypoplasia; Humans; Malocclusion; Mental Disorders; Middle Aged; Oral Manifestations; Phenylalanine; Phenylketonurias; Salivation; Tongue; Tooth, Supernumerary | 1968 |
The Guthrie screening test for phenylketonuria: a report on two years participation in the national programme.
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Methods; New Zealand; Phenylalanine; Phenylketonurias; State Medicine; Tyrosine | 1969 |
Phenylketonuria: a family study.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Inhibition of human brain pyruvate kinase and hexokinase by phenylalanine and phenylpyruvate: possible relevance to phenylketonuric brain damage.
Topics: Aging; Animals; Brain; Fetus; Gestational Age; Hexokinase; Humans; In Vitro Techniques; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvate Kinase; Rats | 1969 |
Effect of vitamin B 6 on blood 5-hydroxytryptamine concentration.
Topics: Animals; Animals, Newborn; Birth Weight; Body Weight; Brain; Carboxy-Lyases; Desoxycorticosterone; Diet; Female; Fetus; Humans; In Vitro Techniques; Indoleacetic Acids; Infant; Infant, Newborn; Kidney; Liver; Phenylalanine; Phenylketonurias; Postpartum Period; Pregnancy; Pyridoxine; Rats; Serotonin; Tryptophan; Tyrosine; Umbilical Cord; Vitamin B 6 Deficiency | 1969 |
The assessment of serum amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Tyrosine | 1970 |
The dangers of dietary therapy in phenylketonuria.
Topics: Deficiency Diseases; Diet Therapy; Edema; Fatigue; Feeding and Eating Disorders; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Neurologic Manifestations; Phenylalanine; Phenylketonurias; Sucking Behavior; Vomiting | 1970 |
Effects of folic and folinic acids on the metabolism of phenylalanine in phenylketonuria.
Topics: Adolescent; Child; Female; Folic Acid; Humans; Lactates; Leucovorin; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Urine | 1965 |
Serotonin deficiency in infancy as a cause of a mental defect in experimental phenylketonuria.
Topics: 5-Hydroxytryptophan; Animals; Animals, Newborn; Chlorpromazine; Electroshock; Female; Humans; In Vitro Techniques; Intellectual Disability; Learning; Male; Melatonin; Mice; Neurosecretion; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Reserpine; Serotonin; Tryptamines; Tyrosine; Urine | 1965 |
A low-protein, low-phenylalanine vegetable casserole.
Topics: Amino Acids; Child; Cooking; Diet Therapy; Dietary Proteins; Humans; Male; Phenylalanine; Phenylketonurias; Vegetables | 1969 |
Changes in plasma growth hormone after a phenylalanine tolerance test in normal and phenylketonuric children.
Topics: Adult; Blood Glucose; Child; Child, Preschool; Female; Growth Hormone; Humans; Male; Phenylalanine; Phenylketonurias | 1969 |
A simple device for the rapid plating of autoclaved blood spots for the Guthrie test.
Topics: Biological Assay; Humans; Phenylalanine; Phenylketonurias | 1969 |
[Determination of heterozygote carrier state of phenylketonuria gene].
Topics: Adult; Female; Heterozygote; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Blood amino acids in phenylketonuria. 11 cases].
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Chromatography, Ion Exchange; Diet Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1969 |
Diurnal variations of serum phenylalanine in phenylketonuric children on low phenylalanine diet.
Topics: Child, Preschool; Circadian Rhythm; Diet Therapy; Fasting; Feeding Behavior; Humans; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine | 1969 |
Another population of phenylketonuria? Studies on atypical phenylketonurics.
Topics: Aged; Child; Child, Preschool; Electroencephalography; Female; Humans; Intelligence; Intelligence Tests; Male; Neurologic Examination; Pedigree; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Population Surveillance; Tyrosine | 1969 |
[Some indices of phenylalanine and tyrosine metabolism in children with phenylketonuria].
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
The dilemma of phenylketonuria.
Topics: Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1969 |
Screening for phenylketonuria.
Topics: Bacteria; Biological Assay; Chromatography, Paper; Fluorometry; Humans; Infant; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1969 |
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Successful dietetic treatment of phenylketonuria using the "phenylalanine-poor protein hydrolysate Berlin-Chemie". 1. Metabolic balance and physical development].
Topics: Body Constitution; Child; Child, Preschool; Dietary Proteins; Female; Growth; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1969 |
A gas-liquid chromatographic method for the determination of phenylalanine in serum.
Topics: Amino Acids; Chromatography, Gas; Humans; Methods; Phenylalanine; Phenylketonurias | 1969 |
[A case of "classical" phenylketonuria with average intelligence].
Topics: Aged; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Brain and cerebrospinal fluid free amino acids in phenylketonuria.
Topics: Amino Acids; Autopsy; Brain Chemistry; Chromatography, Ion Exchange; Chromatography, Paper; Dipeptides; Histidine; Humans; Phenylalanine; Phenylketonurias | 1969 |
Phenylalanine antimetabolite effect on development. I. Behavioral effects of D,L-4-chlorophenylalanine in the young rat.
Topics: Animals; Animals, Newborn; Escape Reaction; Humans; Learning; Male; Phenylalanine; Phenylketonurias; Rats; Time Factors | 1969 |
Maternal phenylketonuria. Course of two pregnancies.
Topics: Adult; Amniotic Fluid; Birth Weight; Chromatography; Female; Growth; Heart Defects, Congenital; Hemorrhage; Humans; Infant, Newborn; Intellectual Disability; Lung; Lymphangiectasis; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine; Umbilical Cord; Vagina | 1969 |
The incidence of phenylketonuria and evaluation of its early treatment.
Topics: Child Development; Diet Therapy; Dietary Proteins; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Poland | 1969 |
[Effect of late use of diet therapy in a child with phenylketonuria].
Topics: Age Factors; Brain Damage, Chronic; Child; Diet Therapy; Family Characteristics; Follow-Up Studies; Humans; Male; Personality Development; Phenylalanine; Phenylketonurias; Prognosis; Socioeconomic Factors; Time Factors | 1969 |
Clinical and biochemical observations of patients with atypical phenylketonuria.
Topics: Child, Preschool; Female; Humans; Infant; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
Determination of platelet serotonin by a fluorimetric method.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood Platelets; Child; Child, Preschool; Female; Fluorometry; Histidine; Humans; Infant; Male; Methods; Phenylalanine; Phenylketonurias; Serotonin | 1970 |
Aromatic acid excretion in phenylketonuria. Analysis of the unconjugated aromatic acids derived from phenylalanine.
Topics: Acids; Chromatography, Gas; Diet; Female; Hippurates; Humans; Infant, Newborn; Lactates; Male; Mandelic Acids; Mathematics; Methods; Models, Chemical; Paper; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Spectrum Analysis | 1970 |
Hyperphenylalanemia. Incidence in Maine since 1964.
Topics: Humans; Infant, Newborn; Maine; Mass Screening; Phenylalanine; Phenylketonurias | 1970 |
Glutamine depletion in phenylketonuria. A possible cause of the mental defect.
Topics: Adult; Amino Acids; Diet Therapy; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Tryptophan | 1970 |
Screening the "normal" population in Massachusetts for phenylketonuria.
Topics: Adolescent; Adult; Aged; Amino Acids; Diet Therapy; Female; Humans; Intellectual Disability; Male; Mass Screening; Massachusetts; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
Phenylketonuria in the general population.
Topics: Child; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Massachusetts; Phenylalanine; Phenylketonurias | 1970 |
Excess of males among false-positive tests on screening for phenylketonuria.
Topics: False Positive Reactions; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Factors | 1970 |
The renal transport of amino acids in untreated infants with phenylketonuria.
Topics: Amino Acids; Female; Glomerular Filtration Rate; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Phenylalanine; Phenylketonurias | 1970 |
[A case of phenylketonuria detected at birth. Favorable course thanks to the diet].
Topics: Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1970 |
[New results in phenylketonuria].
Topics: Adult; Animals; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Rats | 1970 |
Epidemiological considerations on maternal hyperphenylalaninemia.
Topics: Embryonic and Fetal Development; Female; Humans; Infant, Newborn; Intelligence Tests; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1970 |
Intelligent, small for dates baby born to oligophrenic phenylketonuric mother after low phenylalanine diet during pregnancy.
Topics: Adult; Birth Weight; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine; Umbilical Arteries | 1970 |
Diagnosis of phenylketonuria by gas chromatography.
Topics: Chromatography, Gas; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1970 |
Phenylketonuria: intellectual developmental and early treatment.
Topics: Adult; Age Factors; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias | 1970 |
Sex ratio in hyperphenylalaninemia.
Topics: Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Sex Factors; Sex Ratio | 1970 |
Sex ratio in hyperphenylalaninemia.
Topics: Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Factors; Sex Ratio | 1970 |
Errant genes.
Topics: Humans; Phenylalanine; Phenylketonurias | 1970 |
Phenyketonuria. Evaluation of early treatment.
Topics: Age Factors; Body Height; Body Weight; Diet Therapy; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1970 |
Phenylketonuria. Some current problems.
Topics: Biological Assay; Cerebral Cortex; Chromatography; Diet Therapy; Fluorometry; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intelligence; Lipids; Phenylalanine; Phenylketonurias; Time Factors | 1970 |
Evaluation of treatment begun in first three mohs oflife in 184 cases of phenylketonuria.
Topics: Adolescent; Body Height; Body Weight; Cephalometry; Child; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Humans; Intellectual Disability; Intelligence Tests; Male; Parents; Phenylalanine; Phenylketonurias | 1970 |
[Phenylalanine tolerance tests].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
Normal mental development in treated phenylketonuria. Report of ten cases.
Topics: Body Weight; Cephalometry; Diet Therapy; Emotions; Female; Head; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Male; Parent-Child Relations; Phenylalanine; Phenylketonurias; Time Factors | 1970 |
Two siblings of hyperphenylalaninemia: suggestion to a genetic variant of phenylketonuria.
Topics: Amino Acids; Carbon Isotopes; Chromatography; Humans; Infant; Intellectual Disability; Liver; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1970 |
An approach to management of phenylketonuria.
Topics: Child; Child, Preschool; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Psychological Tests | 1970 |
From the Clinical Conference St. Louis Children's Hospital. Phenylketonuria. Diagnostic and therapeutic dilemma.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan; Tyrosine | 1970 |
Malnutrition with early treatment of phenylketonuria.
Topics: Anemia; Bone Diseases, Developmental; Child, Preschool; Deficiency Diseases; Diet Therapy; Growth Disorders; Humans; Hypoproteinemia; Infant; Intellectual Disability; Nutrition Disorders; Phenylalanine; Phenylketonurias | 1970 |
[Phenylpyruvic oligophrenia in cousins (contribution to the national occurrence)].
Topics: Aminobutyrates; Child; Female; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias; Spain | 1970 |
An investigation of the hyperaminoaciduria in phenylketonuria associated with the feeding of certain commercial low-phenylalanine preparations.
Topics: Alanine; Amino Acids; Child; Child, Preschool; Diet Therapy; Female; Humans; Hydro-Lyases; Infant; Male; Metabolic Diseases; Phenylalanine; Phenylketonurias; Proteins; Stereoisomerism; Tryptophan | 1970 |
Age and phenylalanine.
Topics: Age Factors; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias | 1970 |
Hyperphenylalaninemia: disaggregation of brain polyribosomes in young rats.
Topics: Aging; Animals; Animals, Newborn; Brain Chemistry; Cell-Free System; Centrifugation, Density Gradient; Disease Models, Animal; Humans; Injections, Intraperitoneal; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Ribosomes | 1970 |
Effects of excess dietary phenylalanine on composition of cerebral lipids.
Topics: Animals; Body Weight; Brain; Brain Chemistry; Cholesterol; Diet; Glycolipids; Humans; Lipids; Male; Myelin Sheath; Organ Size; Phenylalanine; Phenylketonurias; Phospholipids; Plasmalogens; Rats; Stereoisomerism; Tyrosine | 1970 |
Effect of phenylalanine on protein synthesis in the developing rat brain.
Topics: Acetates; Age Factors; Animals; Brain; Carbon Isotopes; Female; Glycine; Humans; Intellectual Disability; Leucine; Male; Methionine; Myelin Sheath; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Sulfur Isotopes | 1970 |
Use of p-chlorophenylalanine to induce a phenylketonuric-like condition in rats.
Topics: Animals; Body Weight; Brain; Disease Models, Animal; Female; Humans; Intellectual Disability; Learning; Mixed Function Oxygenases; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Serotonin; Swimming | 1970 |
Growth and nutrition in treated phenylketonuric patients.
Topics: Child; Child, Preschool; Diet Therapy; Dietary Proteins; Growth; Humans; Infant; Infant, Newborn; Intelligence; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonurias | 1970 |
[Treatment of phenylketonuria].
Topics: Animals; Chromatography, Thin Layer; Diagnosis, Differential; Diet Therapy; Humans; Indicators and Reagents; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Milk; Phenylalanine; Phenylketonurias | 1970 |
[Phenylpyruvate and o-hydroxyphenylacetate in the urine of phenylketonurics treated by dietary measures].
Topics: Adolescent; Child; Child, Preschool; Chromatography, Paper; Chromatography, Thin Layer; Diet Therapy; Female; Humans; Infant; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1970 |
Hair amino acids: normal values and results in metabolic errors.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Female; Glutamates; Hair; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Phenylketonurias; Proteins | 1970 |
Results of dietary control in phenylketonuria.
Topics: Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias | 1970 |
[Sinphenal--a diet for patients with phenylketonuria].
Topics: Child; Diet Therapy; Drug Tolerance; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1970 |
Atypical phenylketonuria in a family with a phenylketonuric mother.
Topics: Adult; Alleles; Child; Female; Genes, Regulator; Heterozygote; Humans; Infant, Newborn; Male; Microcephaly; Milk, Human; Mixed Function Oxygenases; Phenotype; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1970 |
[How to detect avoidable mental retardation?].
Topics: Diet Therapy; Humans; Intellectual Disability; Intelligence Tests; Mass Screening; Phenylalanine; Phenylketonurias | 1970 |
An assessment of an automated fluorimetric blood phenylalanine technique for phenylketonuria screening and for accurate estimations.
Topics: Analysis of Variance; Chromatography, Ion Exchange; Fluorometry; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1970 |
Results of treatment and termination of the diet in phenylketonuria (PKU).
Topics: Age Factors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Sex Factors; Time Factors | 1970 |
Intelligence quotients and intelligence loss in patients with phenylketonuria and some variant states.
Topics: Child; Diet Therapy; Family; Female; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1970 |
Phenylketonuria--report of a case.
Topics: Chemical Phenomena; Chemistry; Child; Chromatography; Female; Humans; India; Male; Methods; Pedigree; Phenylalanine; Phenylketonurias | 1970 |
Atypical phenylketonuria. An approach to diagnosis and management.
Topics: Biological Assay; Child; Chromatography; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
[Fetal brain damage in maternal heterozygous phenylketonuria].
Topics: Adult; Brain Damage, Chronic; Female; Heterozygote; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1970 |
Biochemical investigations in five patients with phenylketonuria.
Topics: Child; Child, Preschool; Female; Humans; India; Male; Molecular Biology; Phenylalanine; Phenylketonurias | 1970 |
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1970 |
Thin layer ion exchange chromatography on resin-coated chromatoplates. I. Separation of aromatic and basic amino acids (phenylketonuria-test).
Topics: Amino Acids; Chromatography, Ion Exchange; Chromatography, Thin Layer; Humans; Ion Exchange Resins; Methods; Phenylalanine; Phenylketonurias | 1970 |
[Weight curves of phenylketonuric newborns and children under phenylalanine-free diet].
Topics: Birth Weight; Body Weight; Diet Therapy; Dietary Proteins; Food; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Phenylalanine; Phenylketonurias | 1970 |
Hyperphenylalaninaemia.
Topics: Humans; Phenylalanine; Phenylketonurias; Terminology as Topic | 1970 |
[Kidney function and renal transport of amino acids in untreated phenylketonurias].
Topics: Amino Acids; Glomerular Filtration Rate; Humans; Infant; Infant, Newborn; Kidney Function Tests; Phenylalanine; Phenylketonurias | 1970 |
[Experiences with a new amino acid analyzer for a rapid analysis].
Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
[Spicular formation of the radius metaphysis as a manifestation of phenylalanine deficiency].
Topics: Anemia; Body Weight; Calcinosis; Deficiency Diseases; Diet Therapy; Female; Growth Disorders; Hand; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Nutritional Requirements; Phenylalanine; Phenylketonurias; Radiography; Radius; Ulna | 1970 |
Effects of maternal phenylketonuria on the rat fetus.
Topics: Animals; Birth Weight; Cataract; Embryonic and Fetal Development; Female; Fetal Death; Fetus; Humans; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats | 1970 |
A learning impairment associated with induced phenylketonuria.
Topics: Age Factors; Amino Acids; Animals; Behavior, Animal; Body Weight; Chromatography, Thin Layer; Diet; Female; Humans; Learning Disabilities; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Pregnancy, Animal; Rats; Tyrosine | 1970 |
Metabolism of phenylalanine in mice homozygous for the gene 'dilute lethal'.
Topics: Animals; Disease Models, Animal; Female; Genes, Lethal; Homozygote; Humans; Liver; Male; Mice; Mixed Function Oxygenases; Nervous System Diseases; Organ Size; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1970 |
Cerebral lipid metabolism in experimental hyperphenylalaninaemia: incorporation of 14C-labelled glucose into total lipids.
Topics: Animals; Animals, Newborn; Brain; Carbon Isotopes; Disease Models, Animal; Glucose; Humans; In Vitro Techniques; Lipids; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats; Tyrosine | 1970 |
Brain uptake of 75 Se-selenomethionine.
Topics: Animals; Blood-Brain Barrier; Brain; Humans; Methionine; Pancreas; Phenylalanine; Phenylketonurias; Radioisotopes; Rats; Selenium | 1970 |
Influence of mode and duration of phenylalanine administration on biochemical parameters in rats of various ages.
Topics: Age Factors; Animal Nutritional Physiological Phenomena; Animals; Brain Chemistry; Corticosterone; Diet; Humans; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Serotonin; Tryptophan Hydroxylase; Tyrosine | 1970 |
Whey protein formulas in the treatment of phenylketonuria in infants.
Topics: Animals; Body Weight; Dietary Proteins; Fluorometry; Humans; Infant Food; Infant, Newborn; Lactoglobulins; Male; Milk; Phenylalanine; Phenylketonurias | 1970 |
Phenylalaninaemia or classical phenylketonuria (PKU)?
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
Neonatal hyperphenylalaninemia: a differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Prognosis; Transaminases; Tyrosine | 1970 |
Phenylalaninemia or classical phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
Sex ratio in hyperphenylalaninemia of newborn infants.
Topics: California; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Ratio | 1971 |
Conference on sex ratio in phenylketonuria.
Topics: Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Sex Ratio | 1971 |
Responses of children with phenylketonuria to dietary treatment.
Topics: Appetite; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Growth; Humans; Infant; Infant, Newborn; Male; Parent-Child Relations; Phenylalanine; Phenylketonurias | 1971 |
Rapid identification and quantitation of urinary metabolites of phenylalanine in phenylketonuria by gas chromatography.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Gas; Humans; Infant; Infant, Newborn; Methods; Middle Aged; Phenylalanine; Phenylketonurias | 1971 |
Inborn errors of metabolism. Variability within single diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Genes; Genetic Variation; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mutation; Phenylalanine; Phenylketonurias | 1971 |
[Evaluation of the activity of a phenylketonuria detection center. Analysis of the results of 500,000 tests].
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Paper; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias; Preventive Health Services; Tyrosine | 1971 |
[Relations between serum phenylalanine level and phenylpyruvate and o-hydroxyphenylacetate in urine of patients with phenylketonuria, treated by diet].
Topics: Child; Child, Preschool; Diet Therapy; Humans; Infant; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1971 |
[Diet planning in phenylketonuric patients].
Topics: Child; Child, Preschool; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias | 1971 |
[Treatment of phenylketonuria. Principles, management and importance of a phenylalanine-free protein hydrolysate].
Topics: Albumins; Child, Preschool; Diet Therapy; Dietary Proteins; Humans; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1971 |
Treated phenylketonuria: intelligence and blood phenylalanine levels.
Topics: Age Factors; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1971 |
[Hyperphenylalaninemia].
Topics: Adult; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy | 1971 |
The depressing effect of diet on physical growth in phenylketonuria.
Topics: Adolescent; Age Factors; Birth Weight; Body Height; Body Weight; Child; Child, Preschool; Diet Therapy; Evaluation Studies as Topic; Female; Growth; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 1971 |
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study.
Topics: Adolescent; Child; Child, Preschool; Diet; Educational Measurement; Ethnicity; Female; Humans; Infant, Newborn; Intelligence; Male; Phenylalanine; Phenylketonurias; Prospective Studies | 1971 |
Glutamine in pku.
Topics: Autoanalysis; Chromatography, Ion Exchange; Fluorometry; Glutamine; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1971 |
Automated screening procedure for hyperphenylalaninemia.
Topics: Autoanalysis; Dialysis; Fluorometry; Humans; Indicators and Reagents; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1971 |
[A new method of detection of heterozygotes in phenylpyruvic oligophrenia].
Topics: Female; Heterozygote; Humans; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Statistics as Topic; Tyrosine | 1971 |
Classical and mild phenylketonuria in a family.
Topics: Adolescent; Child; Humans; Intelligence; Mandelic Acids; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1971 |
[Phenylketonuria. Psychometric assessment of the phenylalanine-poor diet in children with phenylketonuria].
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Germany, West; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Psychometrics; Time Factors | 1971 |
[Latent phenylketonuria].
Topics: Humans; Infant; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
An improved method for measuring blood concentrations of phenylpyruvic acid.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Borates; Chlorides; Circadian Rhythm; Diagnosis, Differential; Humans; Iron; Male; Methods; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Spectrophotometry; Time Factors; Ultraviolet Rays | 1971 |
A rapid procedure for the determination of phenylalanine and tyrosine from blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Autoanalysis; Chromatography, Ion Exchange; Horses; Hot Temperature; Humans; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Discriminant analysis for detection of phenylketonuric heterozygotes.
Topics: Adult; Female; Heterozygote; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1971 |
[Enteral absorption of phenylalanine in healthy subjects and phenylketonurics].
Topics: Humans; Infant; Injections, Intravenous; Intestinal Absorption; Phenylalanine; Phenylketonurias | 1967 |
[A contribution to the therapy of phenylketonuria].
Topics: Body Weight; Child Nutritional Physiological Phenomena; Child, Preschool; Diet; Diet Therapy; Female; Humans; Male; Phenylalanine; Phenylketonurias | 1967 |
[Phenylketonuria with normal IQ].
Topics: Amino Acids; Child, Preschool; Female; Humans; Intelligence; Intelligence Tests; Phenylalanine; Phenylketonurias | 1967 |
[Systematic screening for phenylketonuria with Phenistix].
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenotype; Phenylalanine; Phenylketonurias | 1967 |
Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children.
Topics: Adolescent; Adult; Female; Genotype; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
[Natural diet with reduced protein content in the treatment of phenylketonuria].
Topics: Adolescent; Adult; Child; Diet Therapy; Dietary Proteins; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
[Comparison between the chemical and microbiological methods of determining phenylalanine in screening for and controlling phenylketonuria].
Topics: Autoanalysis; Fluorometry; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
[The action of fever on phenylalanine blood levels in phenylketonuric patients undergoing treatment].
Topics: Child; Child, Preschool; Diet; Female; Fever; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1967 |
Induced phenylketonuria in rats: behavioural effects.
Topics: Animals; Behavior, Animal; Body Weight; Exploratory Behavior; Fear; Female; Growth; Hair; Humans; Locomotion; Male; Maternal Behavior; Phenylalanine; Phenylketonurias; Rats; Reproduction | 1967 |
[Theory and practice of low-phenylalanine diet therapy for phenylketonuria].
Topics: Child, Preschool; Diet Therapy; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 1967 |
[Phenylalanine and tyrosine in albino rat brain in the normal state and in experimental phenylketonuria].
Topics: Animals; Brain; Humans; Oxidoreductases; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Rats; Tyrosine | 1967 |
Phenylketonuria: evaluation of therapy and verification of diagnosis.
Topics: Blood Protein Electrophoresis; Blood Proteins; Body Height; Body Weight; Child, Preschool; Deficiency Diseases; Diet Therapy; Female; Head; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Some observations on the dietary treatment of phenylketonuria.
Topics: Age Factors; Child, Preschool; Diet Therapy; Humans; Infant; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Screening tests for phenylketonuria.
Topics: Diet Therapy; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias | 1968 |
Population screening by Guthrie test for phenylketonuria in South-east Scotland. Report by the consultant paediatricians and medical officers of health of the S.E. Scotland Hospital Region.
Topics: Blood Specimen Collection; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Scotland | 1968 |
Transient tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Phenylketonurias; Terminology as Topic; Tyrosine | 1968 |
Mass screening of the newborn for metabolic disease.
Topics: Automation; Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; United Kingdom; United States | 1968 |
Phenylketonuria. Mass screening of newborns in Ireland.
Topics: Chromatography; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ireland; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Results of routine screening for phenylketonuria in early infancy, Northern Ireland (1960-67).
Topics: Chlorides; Filtration; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Iron; Mass Screening; Northern Ireland; Phenylalanine; Phenylketonurias | 1968 |
Cognitive development and dietary therapy in phenylketonuric children.
Topics: Child; Child, Preschool; Cognition; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Language Development; Male; Phenylalanine; Phenylketonurias | 1968 |
PKU--some skepticism.
Topics: Diet Therapy; Humans; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias | 1968 |
Variability in the manifestations of phenylketonuria.
Topics: Diet Therapy; Female; Humans; Infant; Phenylalanine; Phenylketonurias | 1968 |
Transient hyperphenylalaninemia.
Topics: Child, Preschool; Diagnosis, Differential; Diet Therapy; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
[On the distribution and clinical characteristics of phenylpyruvic oligophrenia].
Topics: Adolescent; Adult; Brain Injuries; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy | 1968 |
Comparison of fluorimetric and chromatographic procedures for determination of serum phenylalanine.
Topics: Blood Preservation; Child; Chromatography, Paper; Diet; Drug Stability; Fluorometry; Humans; Infant; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Time Factors | 1968 |
Heterogeneity in genetic control of phenylalanine metabolism in man.
Topics: Child, Preschool; Heterozygote; Humans; Infant; Molecular Biology; Phenylalanine; Phenylketonurias; Tyrosine; Veins | 1968 |
Atypical phenylketonuria with borderline or normal intelligence.
Topics: Female; Humans; Intellectual Disability; Intelligence; Male; Pedigree; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
[Thin-layer chromatographic diagnosis of phenylketonuria].
Topics: Chromatography, Thin Layer; Fluorometry; Humans; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1968 |
Paediatric screening for genetically determined metabolic diseases.
Topics: Child, Preschool; Chromatography; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1968 |
Phenylketonuric mother without mental retardation and her two phenylketonuric children.
Topics: Child, Preschool; Female; Homozygote; Humans; Infant; Intelligence; Male; Phenylalanine; Phenylketonurias | 1968 |
Maternal phenylketonuria.
Topics: Adult; Child; Child, Preschool; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias | 1968 |
Maternal phenylketonuria: implications for growth and development.
Topics: Abnormalities, Multiple; Adult; Birth Weight; Body Height; Body Weight; Child; Child Development; Child, Preschool; Embryonic and Fetal Development; Female; Gestational Age; Growth; Heterozygote; Humans; Infant; Intellectual Disability; Intelligence Tests; Male; Microcephaly; Middle Aged; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1968 |
Phenylketonuria in an American Negro infant.
Topics: Black People; Body Height; Body Weight; Diet Therapy; Growth; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Psychological Tests | 1968 |
Case-finding in phenylketonuria: 3. One-way paper chromatography of amino acids in blood.
Topics: Amino Acids; Chromatography, Paper; Humans; Infant, Newborn; Infant, Newborn, Diseases; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
[Phenylketonuria: demonstration of serum samples by thin layer chromatography].
Topics: Chromatography, Thin Layer; Humans; Methods; Phenylalanine; Phenylketonurias | 1968 |
[L-tryptophan metabolism in phenylketonuria].
Topics: Adolescent; Adult; Child; Diet Therapy; Female; Humans; Indoles; Kynurenine; Male; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1968 |
[Phenylketonuria].
Topics: Humans; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Experimentally induced phenylketonuria. II. Potential inhibitors of phenylalanine hydroxylase.
Topics: Alkylating Agents; Animals; Chemical Phenomena; Chemistry; Humans; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats | 1968 |
Atypical phenylketonuria in a seven-year-old profoundly retarded girl: development of phenylalanine tolerance, in spite of apparently continued failure to convert phenylalanine to tyrosine.
Topics: Adolescent; Drug Tolerance; Female; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Experimentally induced phenylketonuria. 3. Inhibitors of phenylalanine hydroxylase related to esculetin.
Topics: Animals; Chemical Phenomena; Chemistry, Physical; Coumarins; Elements; Flavonoids; Humans; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats | 1968 |
Daily rhythm in plasma tyrosine and phenylalanine.
Topics: Animals; Circadian Rhythm; Corticosterone; Diet; Humans; Hydrocortisone; Male; Methods; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1968 |
Absence of high blood ammonia in experimental and genetic phenylketonuria.
Topics: Adolescent; Adult; Ammonia; Animals; Humans; Phenylalanine; Phenylketonurias; Rats | 1968 |
Controlled observations of phenylketonuric children on and during withdrawal from low phenylalanine diet.
Topics: Adolescent; Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Proteins; Social Behavior Disorders | 1968 |
Phenylpyruvic oligophrenia: problems of early diagnosis in neonatal age.
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
[Thin layer chromatography separation and semi-quantitative determination of blood phenylalanine as procedure for the systematic screening of phenylketonuria in newborn infants].
Topics: Chromatography, Thin Layer; Humans; Infant, Newborn; Infant, Newborn, Diseases; Methods; Phenylalanine; Phenylketonurias | 1968 |
[Detection of phenylketonuria using the urine and serum].
Topics: Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1968 |
[Phenylketonuria, its detection and control with thin layer chromatography].
Topics: Chromatography, Thin Layer; Humans; Injections, Intravenous; Methods; Phenylalanine; Phenylketonurias; RNA, Messenger | 1968 |
[3 and one-half years experience with the Guthrie test for early detection of phenylketonuria in lower Saxonia].
Topics: Germany, West; Humans; Phenylalanine; Phenylketonurias | 1968 |
[Brain damage of acute course in an infant with hyperphenylalaninemia and hypercalcemia].
Topics: Birth Weight; Brain; Brain Injuries; Calcium; Diagnosis, Differential; Female; Humans; Hypercalcemia; Hypoparathyroidism; Infant; Phenylalanine; Phenylketonurias | 1968 |
[Phenylketonuria, a congenital metabolic disease. Early recognition and therapy].
Topics: Diet Therapy; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1968 |
[Phenylpyruvic oligophrenia: clinical diagnosis in relation to laboratory findings].
Topics: Amino Acids; Child; Child, Preschool; Chromatography, Ion Exchange; Female; Humans; Male; Phenylalanine; Phenylketonurias; Thyroxine | 1968 |
[Diagnostic problems in a dysphasic subject with an error of phenylalanine metabolism].
Topics: Child, Preschool; Epilepsy; Humans; Infant; Intellectual Disability; Language Disorders; Male; Movement Disorders; Phenylalanine; Phenylketonurias; Seizures; Speech Disorders | 1968 |
Mothers' dietary management of PKU children.
Topics: Child; Child, Preschool; Cooking; Diet Therapy; Dietary Proteins; Dietetics; Female; Health Education; Home Nursing; Humans; Infant; Male; Mother-Child Relations; Patient Care Planning; Personal Satisfaction; Phenylalanine; Phenylketonurias | 1968 |
Protein activators, learning and neural changes in phenylketonuric rats.
Topics: Animals; Brain; Discrimination Learning; Humans; Injections, Intraperitoneal; Microscopy, Electron; Phenylalanine; Phenylketonurias; Placebos; Protein Biosynthesis; Rats; Reversal Learning; Transfer, Psychology | 1968 |
The effects of p-chlorophenylalanine and phenylalanine on brain ester-bound fatty acids of developing rats.
Topics: Animals; Brain; Brain Chemistry; Esters; Fatty Acids; Female; Humans; Oleic Acids; Phenylalanine; Phenylketonurias; Pregnancy | 1968 |
[Difficulties in interpreting a pathological aminoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver Diseases; Male; Methionine; Pancreatitis; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
[Heterozygote identification in phenylketonuria].
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Effect of elevated plasma phenylalanine levels on other amino acids in phenylketonuric and normal subjects.
Topics: Adolescent; Adult; Amino Acids; Child; Female; Humans; Injections, Intravenous; Intellectual Disability; Kidney Tubules; Male; Phenylalanine; Phenylketonurias | 1969 |
[On the diagnosis and therapy of metabolic brain damage in childhood].
Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Diet Therapy; Female; Humans; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1969 |
Phenylalanine tolerance tests. In families with phenylketonuria and hyperphenylalaninemia.
Topics: Age Factors; Child, Preschool; Diagnosis, Differential; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Phenylketonuria and intelligence: trimodal response to dietary treatment.
Topics: Child; Child, Preschool; Diet Therapy; Factor Analysis, Statistical; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Models, Biological; Phenylalanine; Phenylketonurias | 1969 |
Phenylketonuria and phenylalanine diet.
Topics: Child, Preschool; Diet Therapy; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Phenylalanine; Phenylketonurias | 1969 |
Causes for high phenylalanine with normal tyrosine in newborn screening programs.
Topics: Amino Acids; Child; Child, Preschool; Chromosomes; Diet Therapy; Genes, Recessive; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine; United States | 1969 |
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1969 |
Evaluation of dietary treatment in phenylketonuria: a proposed methodology.
Topics: Age Factors; Diet Therapy; Humans; Infant; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonurias | 1969 |
[A few practical comments on diet therapy of phenylketonuria].
Topics: Child; Child, Preschool; Diet Therapy; Dietary Proteins; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Phenylalanine; Phenylketonurias | 1969 |
[Our experiences with treatment of phenylketonuria].
Topics: Child, Preschool; Diet Therapy; Electroencephalography; Humans; Infant; Intellectual Disability; Intelligence Tests; Interprofessional Relations; Methods; Phenylalanine; Phenylketonurias; Time Factors | 1969 |
Phenylketonuria.
Topics: Diet Therapy; Humans; Phenylalanine; Phenylketonurias | 1969 |
Low-protein, low-phenylalanine cakes.
Topics: Diet Therapy; Dietary Proteins; Food; Food Analysis; Humans; Nitrogen; Phenylalanine; Phenylketonurias | 1969 |
[On phenylketonuria with normal intelligence].
Topics: Aged; Carcinoma, Squamous Cell; Diet Therapy; Humans; Intelligence; Male; Mental Disorders; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Skin Neoplasms; Tyrosine | 1969 |
[Studies on the frequency of phenylketonuria using the Guthrie microbial screening test].
Topics: Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Enuresis; Epilepsy; Female; Germany, East; Humans; Infant; Male; Mass Screening; Methods; Middle Aged; Nervous System Diseases; Neurocognitive Disorders; Phenylalanine; Phenylketonurias; Sex Factors; Syphilis | 1969 |
Termination of dietary treatment of phenylketonuria.
Topics: Child; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Humans; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1969 |
[Phenylketonuria].
Topics: Chromatography, Paper; Diet Therapy; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1969 |
[Phenylketonuria in children with deep mental retardation hospitalized in special institutions in Cracow province].
Topics: Adolescent; Adult; Child; Child, Institutionalized; Female; Hospitals, Special; Humans; Male; Phenylalanine; Phenylketonurias; Poland | 1969 |
Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis.
Topics: Adolescent; Adult; Aged; Chromatography; Female; Heterozygote; Humans; Male; Middle Aged; Paternity; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1969 |
The newborn phenylketonuria screening program in Ontario.
Topics: Child Health Services; Community Health Services; Diagnostic Services; Diet Therapy; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Ontario; Phenylalanine; Phenylketonurias | 1969 |
Hyperphenylalaninemia: effect on the developing rat brain.
Topics: Aging; Animals; Animals, Newborn; Body Weight; Brain; Humans; Injections, Subcutaneous; Lipid Metabolism; Liver; Mixed Function Oxygenases; Myelin Sheath; Organ Size; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1969 |
Effects of experimentally induced phenylketonuria on seizure susceptibility in mice.
Topics: Animals; Brain Chemistry; Diet; Humans; Mice; Norepinephrine; Phenylalanine; Phenylketonurias; Seizures; Serotonin; Tyrosine | 1969 |
Twelve years of clinical experience with phenylketonuria. A statistical evaluation of symptoms, growth, mental development, electroencephalographic records, serum phenylalanine levels, and results of dietary management.
Topics: Body Height; Body Weight; Child; Child, Preschool; Diet Therapy; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1969 |
The search for phenylketonuria.
Topics: Humans; Mass Screening; North America; Phenylalanine; Phenylketonurias | 1969 |
Persistent mild hyperphenylalaninemia in various ethnic groups in Israel.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Israel; Male; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine; White People | 1969 |
Testing for phenylketonuria.
Topics: England; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias | 1969 |
Procedures for monitoring the low-phenylalanine diet in treatment of phenylketonuria.
Topics: Blood Chemical Analysis; Child, Preschool; Chromatography; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias; Urine | 1965 |
Identification of the diketopiperazine of histidylproline in human urine.
Topics: Chromatography, Ion Exchange; Diet Therapy; Dipeptides; Humans; In Vitro Techniques; Infrared Rays; Phenylalanine; Phenylketonurias; Piperazines; Urine | 1965 |
Phenylalanine levels in blood and urine in newborn infants, measured by Guthrie test.
Topics: Adult; Blood; Feces; Humans; In Vitro Techniques; Infant; Infant, Newborn; Infant, Premature; Phenylalanine; Phenylketonurias; Urine | 1965 |
[Biochemical and analytical bases of the exploration of phenylalanine metabolism].
Topics: Humans; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1964 |
["Borderline" forms of phenylketonuria].
Topics: Adolescent; Child, Preschool; Humans; Infant; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan | 1964 |
Characteristics of the hepatic phenylalanine-hydroxylating system in newborn rats.
Topics: Animals; Animals, Newborn; Coenzymes; Humans; In Vitro Techniques; Liver; Mixed Function Oxygenases; Oxidoreductases; Phenylalanine; Phenylketonurias; Rats; Subcellular Fractions; Tyrosine | 1965 |
Phenylketonuria or phenylpyruvic oligophrenia in the rat: behavioural and biochemical correlates.
Topics: Animals; Female; Humans; Injections, Intraperitoneal; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Rats | 1965 |
Phenylketonuria; the patogenetic problems of a molecular disease affecting the nervous system.
Topics: Humans; Phenylalanine; Phenylketonurias | 1965 |
[Study of the metabolism of an enzymatic system in phenylketonuria].
Topics: Adolescent; Child; Child, Preschool; Enzymes; Humans; Infant; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
Diagnostic and therapeutic implications of persistent hyperphenylalaninemia in an infant heterozygous for the gene of phenylketonuria.
Topics: Blood; Child, Preschool; Diet Therapy; Follow-Up Studies; Humans; Liver; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
[Cases of phenylketonuria treated with diet and cymogran].
Topics: Amino Acids; Child, Preschool; Diet Therapy; Humans; Male; Phenylalanine; Phenylketonurias | 1966 |
The use of filter paper PKU test specimen cards in the automated determination of blood phenylalanine concentration.
Topics: Autoanalysis; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1966 |
Evaluation of the effects of terminating the diet in phenylketonuria.
Topics: Child; Child Behavior Disorders; Child, Preschool; Diet Therapy; Humans; Infant; Phenylalanine; Phenylketonurias; Psychology, Child | 1966 |
Some factors affecting McCaman-Robins test results in screening newborns for PKU.
Topics: Blood Specimen Collection; California; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Specimen Handling | 1966 |
Maternal phenylketonuria.
Topics: Adult; Child; Diet; Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1966 |
Tolerance of phenylalanine after ntravenous administration in phenylketonurics, heterozygous carriers, and normal adults.
Topics: Adult; Drug Tolerance; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
Phenylketonuria: blood levels of phenylpyruvic and ortho-hydroxyphenylacetic acids.
Topics: Diet Therapy; Humans; Intelligence; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1966 |
L-tryptophan metabolism in phenylketonuria.
Topics: Adolescent; Adult; Blood Chemical Analysis; Child; Child, Preschool; Chromatography; Diet; Feces; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine; Urine | 1966 |
Prenatal and postnatal developmental consequences of maternal phenylketonuria.
Topics: Adult; Birth Weight; Congenital Abnormalities; Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1966 |
A cooperative study of two methods for phenylalanine determination: McCaman-Robins fluorimetric and microbiologic inhibition methods.
Topics: Adolescent; Biological Assay; Blood Chemical Analysis; Child; Child, Preschool; Female; Fluorometry; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1966 |
PKU laws, a model for the future?
Topics: Blood; Child; Child, Preschool; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1966 |
Biochemical and EEG studies in phenylketonuric children during phenylalanine tolerance testc.
Topics: Blood; Blood Glucose; Child, Preschool; Diet Therapy; Drug Tolerance; Electroencephalography; Fasting; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias | 1966 |
Phenylalanine deficiency syndrome.
Topics: Deficiency Diseases; Diet Therapy; Female; Hematocrit; Hemoglobins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
Dosage parameters of a behavioral deficit associated with phenylketonuria in rats.
Topics: Animals; Humans; Learning; Phenylalanine; Phenylketonurias; Rats | 1966 |
Detection of phenylketonuria in newborn infants.
Topics: Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
[Phenylketonuria. Report of third diagnosed case in Finland].
Topics: Child; Finland; Humans; Male; Phenylalanine; Phenylketonurias | 1966 |
[Contribution to the study of phenylketonuria].
Topics: Adult; Diet Therapy; Erythrocytes, Abnormal; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Tryptophan | 1966 |
Occult phenylketonuria. Experience with the Guthrie test.
Topics: Adult; Female; Humans; Phenylalanine; Phenylketonurias | 1966 |
Quantitative measurement of individual free amino acids in urine by means of high voltage paper electrophoresis. Investigations of a group of mentally retarded patients.
Topics: Adolescent; Adult; Aged; Amino Acids; Chromatography, Ion Exchange; Cystinuria; Electrophoresis; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1966 |
Influence of anabolic hormones on phenylalanine metabolism. I. Studies on chronic phenylketonuric patients.
Topics: Alanine Transaminase; Anabolic Agents; Aspartate Aminotransferases; Body Weight; Chlorpromazine; Chorionic Gonadotropin; Growth Hormone; Humans; Nandrolone; Nitrogen; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
A comparison of two laboratory techniques for early detection of phenylketonuria.
Topics: Biological Assay; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Spectrophotometry | 1966 |
Detection of phenylketonuria (PKU) by the Guthrie technique in institutions for the mentally retarded.
Topics: Adult; Biological Assay; Child; Female; Humans; Male; Mass Screening; Middle Aged; Phenylalanine; Phenylketonurias | 1966 |
[On the treatment of phenylketonuria with a low-phenylalanine protein hydrolysate produced by VEB Berlin-Chemie].
Topics: Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Protein Hydrolysates | 1966 |
[The early diagnosis of phenylketonuria (Følling's disease) in lower Saxony by means of the Guthrie test].
Topics: Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1966 |
[Early diagnosis of phenylketonuria].
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1966 |