tyrosine has been researched along with BH4 Deficiency in 586 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 423 (72.18) | 18.7374 |
| 1990's | 55 (9.39) | 18.2507 |
| 2000's | 45 (7.68) | 29.6817 |
| 2010's | 47 (8.02) | 24.3611 |
| 2020's | 16 (2.73) | 2.80 |
| Authors | Studies |
|---|---|
| Albano, L; Concolino, D; Crisci, D; Esposito, G; Ferraro, S; Nastasi, A; Parenti, G; Ruoppolo, M; Scala, I; Sestito, S; Strisciuglio, P | 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 |
| Abgottspon, S; Christ, SE; Everts, R; Hochuli, M; Muri, R; Radojewski, P; Trepp, R | 1 |
| Liguori, S | 1 |
| Blair, HC; Dobrowolski, SF; Goetzman, E; Phua, YL; Vockley, J | 1 |
| Liu, Y; Westerhoff, HV | 1 |
| Balasubramaniam, S; Bandodkar, S; Devanapalli, B; Junek, R; Kim, WT; Mohammad, S; Parayil Sankaran, B; Wong, RSH; Wotton, T | 1 |
| Birkeland, E; Haavik, J; Kleppe, R; Patil, S; Szigetvari, PD | 1 |
| Campistol Plana, J | 1 |
| Karvaly, GB; Kiss, E; Komka, Z; Kovacs, K; Patocs, A; Reismann, P; Simon, E; Sumanszki, C; Toth, M | 1 |
| de Blaauw, P; Heiner-Fokkema, MR; Kingma, HA; Koehorst, M; van Dam, E; van Ginkel, WG; 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 | 1 |
| Cao, Z; Kong, Y; Li, T; Liu, W; Ma, Z; Rosenbaum, ER; Song, B; Wan, Z; Yue, X; Zhai, Y | 1 |
| Remmington, T; Smith, S | 1 |
| Giorda, S; Ponzone, A; Porta, F; Spada, M | 1 |
| Burgerhof, J; de Vries, MC; Evers, R; Heiner-Fokkema, MR; Janssen, M; van Dam, E; van Spronsen, FJ; van Wegberg, A | 1 |
| Levy, HL; Murali, SG; Nair, N; Ney, DM; Rohr, F; Sawin, EA; Stroup, BM | 1 |
| Angeloni, A; Blau, N; Carducci, C; Chiarotti, F; Leuzzi, V; Nardecchia, F; Santagata, S; Valentini, G | 1 |
| MacDonald, A; Rocha, JC; Singh, RH; van Spronsen, FJ | 1 |
| Chen, PS; Chou, YC; Jair, YC; Lin, C; Yeh, YC | 1 |
| Azevedo, L; Borges, N; Daly, A; MacDonald, A; Pena, MJ; Pinto, A; Rocha, JC | 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 |
| de Sain-van der Velden, MG; Holwerda-Loof, NE; Prinsen, HC; Verhoeven-Duif, NM; Visser, G | 1 |
| Webster, D; Wildgoose, J | 2 |
| Soloway, AH; Soloway, PD; Warner, VD | 1 |
| de Groot, MJ; de Valk, HW; Hoeksma, M; Paans, AM; Reijngoud, DJ; Sauer, PJ; van Spronsen, FJ | 1 |
| Ingenito, L; Parenti, G; Pecce, R; Ruoppolo, M; Scolamiero, E | 1 |
| Blank, RD; Hansen, KE; Ney, DM | 1 |
| Abraham, S; Anikster, Y; Brenner, O; Harmelin, A; Pode-Shakked, B; Schwartz, G; Shemer-Meiri, L; Stettner, N | 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 |
| de Sonneville, LM; Huijbregts, SC; Jahja, R; van der Meere, JJ; van Spronsen, FJ | 1 |
| Arning, E; Bottiglieri, T; Gibson, KM; Grompe, M; Harding, CO; Winn, SR | 1 |
| Azen, C; Moseley, K; Yano, S | 1 |
| Gu, X; Ye, J | 1 |
| Battelino, T; Groselj, U; Kovac, J; Murko, S; Repic Lampret, B; Trampus Bakija, A; Zerjav Tansek, M | 1 |
| Arnold, GL; Cohen-Pfeffer, JL; Enns, GM; Ficicioglu, C; Longo, N; Parker, S; Pridjian, G | 1 |
| Alonso, E; Contreras, J; Fuentes, LE | 1 |
| Coitinho, AS; Deon, M; Donida, B; Faverzani, JL; Guerreiro, GB; Marchetti, DP; Mescka, CP; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Abdi, M; Amini, S; Andalibi, P; Ardalan, A; Fathollahpour, A; Hajir, MS; Hakhamaneshi, MS; Tavana, S | 1 |
| Juhász, E; Kiss, E; Patócs, A; Reismann, P; Simonova, E | 1 |
| Arce, CA; Bisig, CG; Dentesano, YM; Ditamo, Y; Purro, SA | 1 |
| Chahal, S; Daly, A; Evans, S; MacDonald, A; Santra, S | 1 |
| Banerjee, P; Banik, D; Dutta, R; Kundu, S; Sarkar, N | 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 |
| de Valk, HW; Hoeksma, M; Paans, AM; Pruim, J; Reijngoud, DJ; van Spronsen, FJ | 1 |
| McGill, J; Sharman, R; Sullivan, K; Young, R | 2 |
| Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E | 1 |
| Gorman, D; Nagel, BJ; Posner, J | 1 |
| Alluto, A; Ferraris, S; Mussa, A; Ponzone, A; Porta, F; Spada, M | 1 |
| Koch, R; Trefz, F; Waisbren, S | 1 |
| Danecka, MK; Eichinger, A; Fingerhut, R; Gersting, SW; Glossmann, H; Lagler, FB; Muntau, AC; Staudigl, M; Steinbacher, A; Zsifkovits, C | 1 |
| McGill, JJ; Sharman, R; Sullivan, KA; Young, RM | 1 |
| Homma, D; Ichinose, H; Ikemoto, K; Katoh, S; Kondo, K; Nomura, T; Sumi-Ichinose, C; Tokuoka, H | 1 |
| Bernstein, I; Boland, C; Chikwana, VM; Iwata-Reuyl, D; Kelly, VP; Rakovich, T | 1 |
| Ahn, JK; Choi, JH; Chung, JH; Fu, YM; Hong, YH; Joe, CO; Kim, JW; Kwak, SS; Lee, DH; Meadows, GG; Min, H; Sohn, S; Suk, J; Yang, S | 1 |
| Blau, N; Heintz, C; Martinez, A; Thöny, B; Troxler, H | 1 |
| Cerreto, M; Daniele, A; Mehdawy, B; Nisticò, R; Ombrone, D; Pastore, L; Ruoppolo, M; Salvatore, F; Usiello, A | 1 |
| Andolina, D; Cabib, S; Conversi, D; Cruciani, F; Giacovazzo, G; Pascucci, T; Puglisi-Allegra, S | 1 |
| McGill, J; Sharman, R; Sullivan, K; Young, RM | 1 |
| Ross, LF | 1 |
| Gebauer, C; Hennermann, JB; Mönch, E; Roloff, S; Vetter, B; von Arnim-Baas, A | 1 |
| Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T | 1 |
| Agostoni, C; Biondi, ML; Fiori, L; Giovannini, M; Lammardo, AM; Leviti, S; Riva, E; Verduci, E | 1 |
| Tang, AG | 1 |
| Bührdel, P; Ceglarek, U; Kiess, W; Müller, P; Stach, B; Thiery, J | 1 |
| Deng, C; Deng, Y; Wang, B; Yang, X | 1 |
| de Sonneville, LM; Huijbregts, SC; Licht, R; Sergeant, JA; van Spronsen, FJ | 1 |
| Asplin, D; Booth, IW; Ferguson, C; Hall, SK; MacDonald, A; Morris, AA; Rylance, G | 1 |
| Dale, Y; Ike, J; Mackey, V; Maleque, M; Mushi, R; Nyanda, A | 1 |
| Koch, R; Moats, RA; Moseley, KD; Nelson, M; Yano, S | 1 |
| Dyer, CA; Joseph, B | 1 |
| Debrabander, A; Dobbelaere, D; Farriaux, JP; Gottrand, F; Michaud, L; Turck, D; Vanderbecken, S | 1 |
| Acosta, PB; Bernstein, L; Chetty, M; DeVincentis, E; Gleason, S; Jurecki, E; Mofidi, S; Rouse, B; Singh, R; Steiner, R; Yannicelli, S | 1 |
| BICKEL, H; BOSCOTT, RJ | 1 |
| BALIS, ME; DANCIS, J | 1 |
| HAMANN, I | 2 |
| FITZPATRICK, TB; MIYAMOTO, M | 1 |
| MEISTER, A; MOLDAVE, K; WALLACE, HW | 1 |
| BOGDANSKI, DF; MITOMA, C; POSNER, HS; UDENFRIEND, S | 1 |
| HSIA, DY | 4 |
| KAUFMAN, S | 1 |
| TASHIAN, RE | 1 |
| ANDERSON, JA; ERTEL, R; FISCH, R; GRAVEM, H | 1 |
| ANDERSON, JA; ERTEL, R; FISCH, R; GRAVEM, H; McCARTHY, J | 1 |
| BERGER, H | 1 |
| LEWIS, EJ; PARTINGTON, MW | 1 |
| GONCERZEWICZ, M | 3 |
| AUERBACH, VH; BRIGHAM, MP; DIGEORGE, AM; DOBBS, JM | 1 |
| SACKS, W | 1 |
| McGEER, EG; TISCHLER, B | 1 |
| SCHULTZE-JENA, BS | 1 |
| GOSWAMI, ND; KNOX, WE; LYNCH, RD | 1 |
| POLONOVSKI, C | 1 |
| VANDERHOEVEN, T; WOOLLEY, DW | 2 |
| MILBURN, TR; WHITEHEAD, RG | 1 |
| BERMAN, JL; BRENCHLEY, Y; HSIA, DY; JUSTICE, P | 1 |
| BESSMAN, SP | 4 |
| WU, WY | 1 |
| TSUKADA, Y | 1 |
| CITTERIO, C; CUNEGO, A | 1 |
| BOGGS, DE; WAISMAN, HA | 1 |
| APOLLONIO, T; CAREDDU, P; GIOVANNINI, M; TENCONI, L | 1 |
| KNOX, WE; LINDER, MC; LYNCH, RD; MOORE, CL | 1 |
| EFRON, ML | 2 |
| GELLER, E; SLATER, GG; YUWILER, A | 1 |
| FINCKE, ML | 1 |
| ARMSTRONG, MD; SHAW, KN | 1 |
| Hanson, KL; Luciana, M; Whitley, CB | 1 |
| Arnold, GL; Blakely, EM; DeLuca, J; Orlowski, CC; Vladutiu, CJ | 1 |
| Wibrand, F | 1 |
| Allard, P; Ampola, MG; Cowell, LD; Korson, MS; Zytkovicz, TH | 1 |
| Kobori, T; Toda, K; Yoshii, T | 1 |
| Aguado, C; Desviat, LR; Erlandsen, H; Gámez, A; Koch, R; Martínez, A; Matalon, R; Pérez, B; Pey, AL; Scriver, CR; Stevens, RC; Surendran, S; Tyring, S; Ugarte, M | 1 |
| Andersson, HC; Cunningham, A; Hooper, PF; Techakittiroj, C; Thoene, J | 1 |
| Fossbakk, A; Haavik, J | 1 |
| Artuch, R; Boix, C; Campistol, J; Fusté, E; Gassió, R; Sans, A; Vilaseca, MA | 1 |
| Deng, C; Yin, X; Zhang, L; Zhang, X | 1 |
| Embury, JE; Laipis, PJ; Reep, RR | 1 |
| Grady, J; Koch, R; Matalon, R; Michals-Matalon, K; Stevens, RC; Tyring, S | 1 |
| Chakrapani, A; Daly, A; Davies, P; Evans, S; Hall, SK; Hendriksz, C; Lee, P; Lilburn, M; MacDonald, A | 1 |
| Christodoulou, J; Ghosh-Jerath, S; Green, K; Joy, P; Kemp, A; Rae, C; Rocca, A; Schindeler, S; Thompson, S; Wilcken, B | 1 |
| Desilva, MA; Hainline, BE; Nagana Gowda, GA; Raftery, D; Raftery, MA; Shanaiah, N | 1 |
| Dolan, G; Godin, C | 2 |
| Hsia, DY; O'Flynn, ME; Tillman, P | 1 |
| Berry, HK; O'Grady, D; Sutherland, BS; Umbarger, B | 1 |
| Acosta, P; Fishler, K; Koch, R; Schaeffler, G; Wohlers, A | 1 |
| Cass, VM; Gates, L; Kennedy, JL; Sperry, BP; Wertelecki, W | 1 |
| Gerald, PS | 1 |
| Boger, WP; Gavin, JJ; McClelland, J | 1 |
| Scriver, CR | 1 |
| Anderson, JA; Doeden, D; Fisch, RO; Jenness, R | 1 |
| Coward, RF; Smith, P | 1 |
| Bunting, R; Hansen, S; Perry, TL; Tischler, B | 1 |
| Gordon, R; Guroff, G; Lipton, MA; Udenfriend, S | 1 |
| Belzecka, K; Jakubiec, A; Puzyńska, L | 1 |
| Kerr, GR; Waisman, HA | 1 |
| De Long, J; Giles, CE; Ryan, MF; Tuttle, JM | 1 |
| Merzel, J; Raw, I; Schmidt, BJ | 1 |
| Halvorsen, S; Kindt, E | 1 |
| Blehova, B; Curtius, HC; Leimbacher, W; Niederwieser, A; Rey, F; Schaub, J; Schmidt, H; Viscontini, M; Wegmann, H | 1 |
| Fernstrom, JD | 1 |
| Lee, EB | 1 |
| Benevenga, NJ; Steele, RD | 1 |
| Lipson, A; O'Halloran, M; Potter, M; Wilken, B; Yu, J | 1 |
| Kitagawa, T; Nakabayashi, H; Owada, M | 1 |
| Lo, GS; Longenecker, JB | 1 |
| Ambrus, CM; Barren, E; Horvath, C; Kalghatgi, K; Karakousis, CP; Sharma, SD | 1 |
| Bliumina, MG | 1 |
| Freehauf, CL; Goodman, SI; Lezotte, D; McCabe, ER | 1 |
| Franke, L; Kutter, D; Seidel, K; Thoma, J; Uebelhack, R | 1 |
| Levy, HL; Waisbren, SE | 1 |
| Ambrus, CM; Ambrus, JL; Anthone, S; Cooley, C; Horváth, C; Kalghatgi, K; Mirand, EA; Sharma, SD | 1 |
| Peterson, NA; Raghupathy, E; Rhoads, DE; Shah, SN | 1 |
| Koch, R; Lenke, RR; Levy, HL | 1 |
| Jarosch, E; Plöchl, E; Rittinger, O | 1 |
| Clemens, P; Grüttner, R; Heinrich, HC; Lehmann, WD; Theobald, N | 1 |
| Grimm, U; Jährig, K; Knapp, A; Ratzmann, GW | 1 |
| Farishian, RA; Whittaker, JR | 1 |
| Castro, JV; Norton, PM; Sansaricq, C; Snyderman, SE | 1 |
| Königshofer, H; Lubec, G; Pollak, A; Thalhammer, O | 3 |
| Becker, K | 1 |
| Alm, J; Larsson, A; Rosenqvist, U | 1 |
| Breck, J; Steele, MW; Tenenholz, B; Wenger, SL | 1 |
| Schneider, AJ | 1 |
| Cannon-Spoor, HE; DeLisi, LE; Neckers, LM; Potkin, SG; Wyatt, RJ | 1 |
| Greenway, AM; Hoskins, JA | 1 |
| Corbeel, L | 1 |
| Dhondt, JL; Farriaux, JP; Largillière, C | 1 |
| Fishler, K; Koch, R; Lenke, RR; Platt, LD | 1 |
| Aragón, MC; Giménez, C; Valdivieso, F | 1 |
| Cole, DE; Grenier, A; Houghton, SA; Laberge, C; Levy, HL; Scriver, CR | 1 |
| Mamunes, P | 1 |
| Milner, RD; Wirdnam, PK | 1 |
| Berry, HK; Bofinger, MK; Hsieh, MH; Schubert, WK | 1 |
| Hilton, MA | 1 |
| Acosta, PB; Blaskovics, M; Cloud, H; Lis, E; Stroud, H; Wenz, E | 1 |
| Justice, CL; Michels, VV | 1 |
| Erickson, AM; Kaplan, GN; Levy, HL | 1 |
| Bessman, SP; Choi, H; Tomaszewski, L | 1 |
| Coradello, H; Königshofer, H; Lubec, G; Scheibenreiter, S; Thalhammer, O | 1 |
| Cabalska, B; Duczyńska, N; Nowaczewska, I | 1 |
| Berry, HK; Bofinger, MK; Guilfoile, MB; Hunt, MM; Phillips, PJ | 1 |
| Aragón, MC; Benavides, J; Giménez, C; Mayor, F; Valdivieso, F | 1 |
| De Groot, CJ; Hommes, FA | 1 |
| Batshaw, ML; Bessman, SP; Valle, D | 1 |
| Baker, GL; Blaskovics, ME; Filer, LJ; Koch, R; McDonnell, JE; Stegink, LD | 1 |
| Davidson, DC; Ireland, JT; Isherwood, DM; Rae, PG | 1 |
| Clayton, BE; Ersser, RS; Francis, DE; Lilly, P; Seakins, JW; Smith, I; Walker, V; Whiteman, PD | 1 |
| Abell, CW; Richardson, CJ; Rouse, BM; Shen, RS | 1 |
| Alm, J; Larsson, A | 1 |
| Dale, G; Richardson, JP; Tarbit, IF | 1 |
| Azen, C; Blaskovics, M; Holtzman, NA; O'Flynn, ME; Williamson, ML | 1 |
| Baerlocher, K; Curtius, HC; Ettlinger, L; Fuchs-Mettler, M | 1 |
| Lenke, RR; Levy, HL | 1 |
| Dussault, JH; Gagné, R; Grenier, A; Laberge, C; Morissette, J | 1 |
| Lou, HC | 1 |
| Hagenfeldt, L; Iselius, L; Svensson, E | 1 |
| Burmester, JG; Clemens, PC; Plettner, C; Prankel, BH; Wiegand, G; Wulke, AP | 1 |
| Antonioli, C; Gambaro, G; Moffa, M; Moretto, S; Tagliaro, F; Tatò, L; Valentini, R | 1 |
| Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H | 2 |
| Alós, T; Bel, Y; Cabello, ML; Catalá, JL; Dalmau, J; Ferré, J; García, AM; Ruiz-Vázquez, P | 1 |
| Berger, R; Heymans, HS; Reijngoud, DJ; Smit, GP; van Dijk, T; van Rijn, M; van Spronsen, FJ | 2 |
| Chace, DH; Hofman, LF; Kahler, SG; Millington, DS; Roe, CR; Terada, N | 1 |
| de Sonneville, L; Kutscha, A; Landwehr, R; Pietz, J; Schmidt, H; Trefz, FK | 1 |
| Paans, AM; Pruim, J; Smit, GP; Ullrich, K; Visser, G; Willemsen, AT | 1 |
| Diamond, A | 1 |
| Koch, R | 1 |
| Roth, RH; Tam, SY | 1 |
| Lines, D; Magarey, A; Raymond, J; Robertson, E | 1 |
| Callender, G; Diamond, A; Druin, DP; Prevor, MB | 1 |
| Daubner, SC; Fitzpatrick, PF; Hillas, PJ | 1 |
| Bellisario, R; Pass, KA; Reilly, AA | 1 |
| Levy, HL; Lobbregt, D; Rohr, FJ | 1 |
| Levy, HL | 4 |
| Constantopoulos, A; Michelakakis, H; Papakonstantinou, E; Papandreou, U; Schulpis, KH; Theodoridis, T | 1 |
| Levy, PA; Miller, JB; Shapira, E | 1 |
| Austin, V; Clarke, JT; Hanley, WB; Klim, P; Lehotay, DC; Schoonheyt, W; Smith, ML | 1 |
| Berger, R; Heymans, HS; Nagel, GT; Reijngoud, DJ; Smit, GP; Stellaard, F; van Spronsen, FJ | 1 |
| Biondi, A; Bonetti, G; Dianzani, I; Giannattasio, S; Leone, L; Ponzone, A; Spada, M | 1 |
| Guldberg, P; Güttler, F; Henriksen, KF; Lou, HC | 1 |
| Acosta, PB; Bernstein, L; Gaffield, B; Hunt, M; Kuehn, M; Lewis, V; Mantia, C; Marriage, B; McMaster, N; Parton, P; Porterfield, M; Yannicelli, S | 1 |
| Chace, DH; Cunningham, GC; Hillman, SL; Lorey, F; Sherwin, JE | 1 |
| Snyderman, SE | 1 |
| Wapnir, RA | 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 |
| Blau, N; Hoffmann, GF; Hyland, K; Penzien, JM; Renneberg, A; Thöny, B | 1 |
| Kohlmueller, D; Mayatepek, E; Schulze, A | 1 |
| Artuch, R; Cambra, FJ; Campistol, J; Lambruschini, N; Moreno, J; Vilaseca, MA | 1 |
| Ball, RO; Bross, R; Clarke, JT; Pencharz, PB | 1 |
| Poustie, VJ; Rutherford, P | 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 |
| Carvalho, TS; da Silva, FB; da Silva, LC; Giugliani, R; Pereira, ML; Pires, RF | 1 |
| Cunningham, G; Currier, RJ; Eastman, JW; Liao, CL; Lorey, F; Sherwin, JE; Wong, R | 1 |
| Bekhof, J; Koch, R; Smit, PG; van Rijn, M; van Spronsen, FJ | 1 |
| Koch, R; Smit, PG; van Spronsen, FJ | 1 |
| Artuch, R; Cambra, FJ; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA | 1 |
| Blau, N; Bonafé, L; Burlina, AB; Burlina, AP; Güttler, F; Romstad, A | 1 |
| Kalsner, LR; Korson, MS; Levy, HL; Rohr, FJ; Strauss, KA | 1 |
| Baab, PJ; Collins, RM; Zielke, CL; Zielke, HR | 1 |
| Green, A; Hall, SK; Hardy, DT; Preece, MA | 1 |
| Hönig, V; Langenbeck, U; Wendel, U; Zschocke, J | 1 |
| Cucchiara, RF; Dennis, DM; Glushakov, AV; Martynyuk, AE; Morey, TE; Seubert, CN; Sumners, C | 1 |
| Butler, IJ; Koslow, SH | 1 |
| Clayton, BE; Smith, I; Wolff, OH | 2 |
| Hoffbauer, RW; Mönch, E; Schrempf, G | 1 |
| Berman, JL; Ford, RC | 1 |
| Deanching, MN; Justice, P; Matalon, R | 1 |
| Brouwer, M; de Bree, PK; van Sprang, FJ; Wadman, SK | 1 |
| Held, KR; Koepp, P | 1 |
| Grimes, A; Hammond, J; Schlesinger, P | 1 |
| Chandy, S; Joshua, GE; Mammen, D; Mathai, KV; Radhakrishnan, AN | 1 |
| Gimenez, C; Mayor, F; Valdivieso, F | 2 |
| Berry, HK; Butcher, RE; Kazmaier, KJ; Poncet, IB | 1 |
| Delvalle, JA; Greengard, O | 1 |
| Gimenez, C; Maties, M; Mayor, F; Ugarte, M; Valdivieso, F | 1 |
| Biserte, G; Dautrevaux, M; Dhondt, JL; Farriaux, JP | 1 |
| Akeson, AL; Berry, HK; Brunner, RL; Vorhees, CV | 1 |
| Shaposhnikov, AM; Skachkov, MM; Solov'ev, VN | 1 |
| Christian, GD; Kumar, A | 1 |
| Bessman, SP; Koch, R; Williamson, ML | 1 |
| Hill, GN; Pollard, AC; Robertson, EF | 1 |
| Yoshii, T | 1 |
| Chalmers, RA; Purkiss, P; Watts, RW | 1 |
| Kohsaka, M; Okita, M; Shohmori, T | 1 |
| Königshofer, H; Lubec, G; Thalhammer, O | 1 |
| Abell, CW; Gershon, ES; Shen, RS; Targum, SD | 1 |
| Bessman, SP; Crawford, R; Fujimoto, A | 1 |
| Brandt, IK; Elsas, LJ; Jackson, CE; Nance, CS; Nance, WE; Paul, TD | 1 |
| Cividini, D; Daroda, C; Giovannini, M; Riva, E; Stival, G | 1 |
| Bickel, H | 1 |
| Lifehitz, F; Moak, SA; Wapnir, RA | 1 |
| Zammarchi, E | 1 |
| Berry, HK; Butcher, RE; Kazmaier-Novak, KJ; Kindt, CW; Vorhees, CV | 1 |
| Barthon, F; Charpentier, C; Domange, C; Laggoune, B; Lemonnier, A; Wolf, M | 1 |
| Borkowska, I | 1 |
| Borisy, GG; Rodriguez, JA | 1 |
| Güttler, F; Hansen, G | 3 |
| Fell, V; Hoskins, JA; Pollitt, RJ | 1 |
| Lehmann, WD; Schulten, HR | 1 |
| Baerlocher, K; Curtius, HC; Leimbacher, W; Redweik, U; Schaub, J; Zagalak, MJ | 1 |
| Woody, NC | 1 |
| Brandt, IK; Elsas, LJ; Jackson, CE; Mamunes, P; Nance, CS; Nance, WE; Paul, TD | 1 |
| Bechelli, LM; Gonçalves, RP; Pagnano, PM; Tanaka, AM | 1 |
| Reinecke, CJ | 1 |
| Enzenauer, J; Matz, D; Menne, F | 1 |
| Haber, M; Koch, R; Shaw, KN; Williamson, M | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Charpentier, C; Saudubray, JM | 1 |
| Güttler, F; Wamberg, E | 2 |
| Abell, CW; Shen, RS | 1 |
| Dhondt, JL; Farriaux, JP | 2 |
| Jagenburg, R; Regårdh, CG; Rödjer, S | 1 |
| Berry, HK | 1 |
| Jung, EG; Lutz, P; Paweletz, N; Wiest, LG | 1 |
| Andersen, AE; Avins, L | 1 |
| Blair, JA; Green, A; Leeming, RJ; Raine, DN | 1 |
| Koch, R; Schaeffler, G; Shaw, NF | 1 |
| McKean, CM; Schafer, EW | 1 |
| Hoffman, B; Koepp, P | 1 |
| Brown, ES; Kitagawa, T; Smith, BA | 1 |
| Elsas, LJ; Griffin, RF | 1 |
| Brambilla, F; Giardini, M; Russo, R | 1 |
| De Bree, PK; Grimberg, MT; Ketting, D; Kruijswijk, H; Van der Heiden, C; Wadman, SK | 1 |
| Bartholomé, K; Bickel, H; Lutz, P | 1 |
| Iijima, S; Ishii, A; Miyakoshi, T; Musha, M; Odaira, T | 1 |
| Bulakhova, LA | 1 |
| Raine, DN; Westwood, A | 1 |
| Anderson, VE; Siegel, FS | 1 |
| Economou-Petersen, E; Guldberg, P; Güttler, F; Henriksen, KF | 1 |
| Davidson-Mundt, AJ; Greene, CL; Mazzocco, MM; Nord, AM; van Doorninck, W; Yannicelli, S | 1 |
| al-Awadi, SA; al-Ghanim, MM; al-Najdi, K; el-Badramany, MH; Farag, TI; Girish, Y; Uma, R; Usha, R | 1 |
| Kakinuma, H; Sato, H; Tsuchiya, M; Yokoyama, Y | 2 |
| O'Flynn, ME | 1 |
| Bauman, C; Carlson, HE; Hyman, DB; Koch, R | 1 |
| Berlin, CM; Mackey, SA | 1 |
| Greig, LG; Haynes, PA; Kibby, J; Redmond, JW; Sheumack, D | 1 |
| Azen, C; Castiglioni, L; Friedman, EG; Koch, R; Levy, H; Matalon, R; Michals, K; Rohr, F; Rouse, B; Wenz, E | 1 |
| Miller, JB; Qu, Y; Shapira, E; Slocum, RH | 1 |
| Antoshechkin, AG; Chentsova, TV; Naritsin, DB; Railian, GP | 1 |
| Güneral, F; Ozalp, I; Tatlidil, H | 1 |
| Chambers, TL; Harper, PS; Holton, JB; Meredith, AL; Osborn, MJ; Primavesi, R; Tyfield, LA | 1 |
| Davis, MD; Kaufman, S | 1 |
| Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Halliday, D; Thompson, GN | 1 |
| Hyland, K; Surtees, R | 1 |
| Bruhn, P; Gerdes, AM; Lou, HC; Lykkelund, C; Udesen, H | 1 |
| Christensen, E; Gerdes, AM; Güttler, F; Lou, HC; Lykkelund, C; Nielsen, JB; Rasmussen, V | 1 |
| de la Brassinne, M; Diels, M; François, B | 1 |
| Lehmann, WD | 1 |
| Lou, H | 1 |
| Güttler, F; Lou, H | 1 |
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| Bracco, G; Cotton, RG; Ferraris, S; Guardamagna, O; Niederwieser, A; Ponzone, A | 1 |
| Clemens, P; Fischer, R; Grüttner, R; Heinrich, HC; Lehmann, WD | 1 |
| De Klerk, JB; Dijkhuis, HJ; Meuleman, EE; Wadman, SK | 1 |
| Bruinvis, L; Duran, M; Ketting, D; Spaapen, LJ; Wadman, SK | 1 |
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| Danks, DM; Lynch, BC; Maddison, TG; Pitt, DB; Wraith, JE | 1 |
| Rigilano, JC; Stevens, MB; Wilson, CC | 1 |
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| Knapp, A | 1 |
| Bracco, G; Ferraris, S; Guardamagna, O; Ponzone, A | 1 |
| Horn, L; Jellum, E; Kvittingen, EA; Stokke, O; Thoresen, O | 1 |
| Irons, M; Levy, HL | 1 |
| Wachtel, U | 1 |
| Curtius, HC; Guardamagna, O; Hasler, T; Lehmann, H; Niederwieser, A; Schmidt, H; Shintaku, H | 1 |
| Blankenship, PR; Hommes, FA; Roesel, RA | 1 |
| Kawamura, M | 1 |
| Breck, JM; Steele, MW; Vieira, PW; Wenger, SL | 1 |
| Andrews, BF; Hicks, LG; Hilton, MA; Sharpe, JN | 1 |
| Heinrich, HC; Lehmann, WD | 2 |
| Bailey-Wilson, JE; Blitzer, MG; Shapira, E | 2 |
| Ampola, MG; Bailey, IV; Benacerraf, B; Doherty, LB; Levy, HL; Rohr, FJ; Waisbren, SE | 1 |
| Bozkowa, K; Cabalska, B; Duczynska, N; Nowaczewska, I | 1 |
| Blonder, J; Cohen, BE; Normand, M; Peled, I; Quint, J; Szeinberg, A | 1 |
| Dembure, P; Elsas, L; Freides, D; Halminski, M; Krause, W; McDonald, L; Salvo, R | 1 |
| Courville, L; Dagenais, DL; Dagenais, MG | 1 |
| Elliott, RB; Lewis, SA; Lyon, IC | 1 |
| Ersser, R; Francis, DE; Shortland, D; Smith, I; Wolff, OH | 1 |
| Bessman, SP; Chang, PN; Fisch, RO; Sines, L; Weisberg, S | 1 |
| Farquhar, DL; Steven, F; Westwood, A | 1 |
| Acosta, PB; Anderson, K; Kennedy, B | 1 |
| Fisch, RO; Krivit, W; Ramnaraine, ML; Tuchman, M | 1 |
| Friedman, PA; Kang, ES; Kaufman, S | 1 |
| Jackson, SH | 1 |
| Baikov, AD; Sitnichenko, EI | 1 |
| Cranston, WI; Goodwin, BL; Hudson, FP; McBean, MS; Wade, DN; Woolf, F; Woolf, LI | 1 |
| O'Halloran, MT; Yu, JS | 2 |
| Lutz, P | 1 |
| Lines, DR; Waisman, HA | 2 |
| Chamove, AS; Harlow, HF; Kerr, GR | 1 |
| Badinand, A; François, R; Later, R; Mamelle, N; Masson, E; Quincy, C; Site, J | 1 |
| Dorninger, F; Plöchl, E | 1 |
| Boggs, DE | 1 |
| Carver, MJ; Copenhaver, JH; Vacanti, JP | 1 |
| Berry, HK; Butcher, RE; Vorhees, CV | 1 |
| Donnell, GN; Koch, R; Lieberman, E; Shaw, KN | 1 |
| Farrelly, RO; Watkins, WB | 1 |
| Cabalska, B; Duczyńska, N | 2 |
| Royer, P | 1 |
| Brissaud, HE | 1 |
| Buist, NR; Fellman, JH; Kennaway, NG; Swanson, RE | 1 |
| Buist, NR; Fellman, JH; Kennaway, NG | 1 |
| Fisher, DB; Friedman, PA; Kang, ES; Kaufman, S | 1 |
| Holmgren, G; Nordström, S; Thorburn, W | 1 |
| Holtzman, NA; Meek, AG; Mellits, ED | 2 |
| Fekete, G | 1 |
| Lifshitz, F; Wapnir, RA | 1 |
| Chalmers, RA; Watts, RW | 1 |
| Kitagawa, T | 1 |
| Blaskovics, ME; Hack, S; Schaeffler, GE | 1 |
| Cartigny, B; Dhondt, JL; Farriaux, JP | 1 |
| Perrone, L | 1 |
| Bickel, H; Schmidt, H; Schürrle, L | 1 |
| Ampola, MG | 1 |
| Frimpter, GW | 1 |
| Fellman, JH; Fujita, TS; Roth, ES | 1 |
| McKean, CM | 2 |
| Baerlocher, K; Curtius, HC; Völlmin, JA | 2 |
| Dhondt, JL; Farriaux, JP; Fontaine, G; Mesmacque-Caby, D | 1 |
| Martin, JJ; Schlote, W | 1 |
| Bost, M; Boucharlat, J; Favier, A; Ledru, J; Ratel, M; Serre, JC | 1 |
| Kroll, S; Toussaint, W; Zebisch, P | 2 |
| Tomaszewski, L | 1 |
| Auerbach, VH; Goldstein, AD; Grover, WD | 1 |
| Banks, ME; Brown, ES; Colwell, RE; Gerritsen, T; Swanson, MA; Waisman, HA | 1 |
| Blau, K; Edwards, CH; Newsome, HC; Summer, GK | 1 |
| Schmid-Rüter, E | 1 |
| Ambrose, JA | 3 |
| Güttler, F; Rosleff, F | 1 |
| Oldendorf, WH | 1 |
| Beber, B; Tocci, PM | 1 |
| Adelman, LS; Bass, NH; Caley, DW; Mann, JD | 1 |
| Elsas, LJ; Griffin, RF; Hall, EC; Humienny, ME | 1 |
| Kääriäinen, R; Karlsson, R | 1 |
| Kääriäinen, R | 1 |
| Kovács, J | 1 |
| Gold, RJ; Maag, UR; Neal, JL; Scriver, CR | 1 |
| Grenier, A; Laberge, C | 1 |
| Güttler, F | 2 |
| Wamberg, E | 1 |
| Olek, K; Oyanagi, K; Wardenbach, P | 1 |
| Bozkowa, K; Cabalska, MB | 1 |
| Biserte, G | 1 |
| Ampola, MG; Efron, ML | 1 |
| Balda, BR; Lukacs, I | 1 |
| Robins, E | 1 |
| Svatý, J | 1 |
| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P | 1 |
| Crump, EP; Hara, S; Watkins, ML | 1 |
| Seegmiller, JE | 1 |
| Chamove, AS; Harlow, HF; Kerr, GR; Waisman, HA | 1 |
| Hirano, S | 1 |
| Kelly, S; Rose, F | 1 |
| Mrskos, A | 1 |
| Podhradská, O | 1 |
| Johnson, CF | 1 |
| Hill, A; Hoag, GN; Zaleski, WA | 1 |
| Emery, AE; Farquhar, JW; Timson, J | 1 |
| Campbell, DJ; Reid, DW; Yakymyshyn, LY | 1 |
| Bongiovanni, G; Mondino, A | 1 |
| Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN | 1 |
| Delabre, M; Farriaux, JP | 1 |
| Rey, F; Rey, J; Sivy, M | 1 |
| Forsum, E; Hambraeus, L | 1 |
| Brase, DA; Westfall, TC | 1 |
| Cockburn, F; Farquhar, JW; Forfar, JO; Giles, M; Robins, SP | 1 |
| Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O | 1 |
| Brodehl, J; Hensen, SB; Schröder, MR; Shinoda, M; Weber, HP | 1 |
| Howell, RR; Parmley, TH; Stevenson, RE; Thomas, GH | 1 |
| Tada, K | 1 |
| Gero, T; Gosse, GD; Hanley, WB; Jackson, SH | 1 |
| Barkin, E; Levy, HL | 1 |
| van der Horst, JL; Wadman, SK | 1 |
| Clayton, BE | 1 |
| Mellon, J | 1 |
| Raine, DN | 1 |
| Grüttner, R; Rybak, C; Sternowsky, HJ | 1 |
| Hambraeus, L; Holmgren, G; Samuelson, G | 1 |
| Bosshard, HR; Curtius, HC; Müller, M; Rampini, S; Völlmin, JA | 1 |
| Becroft, DM; Horn, CR | 1 |
| Crosby, PF; Matos, ML; Navarro, A | 1 |
| Berman, JL; Hsia, DY; Justice, P | 1 |
| Carrell, RW; Swallow, WH | 1 |
| Van der Hoeven, T; Woolley, DW | 1 |
| Borud, O; Gjessing, LR; Nishimura, T | 1 |
| D'iachkova, AIa; Lebedev, BV | 2 |
| Farriaux, JP; Fontaine, G | 1 |
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| Aviad, Y; Berman, W; Cohen, BE; Crispin, M; Goland, R; Hirshorn, N; Szeinberg, A | 1 |
| Anke, A; Knapp, A; Schwenke, W | 1 |
| Huntley, CC; Stevenson, RE | 1 |
| Gerald, PS; Kang, ES; Kaufman, S | 1 |
| Houghton, SA; Karolkewicz, V; Levy, HL; MacCready, RA | 1 |
| Arthur, LJ; Hulme, JD | 1 |
| Mrskos, A; Podhradská, O | 1 |
| Konno, T; Mochizuki, K; Nakagawa, H; Tada, K; Yoshida, T | 1 |
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| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC | 1 |
| Adams, B; O'Halloran, MT; Yu, JS | 2 |
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| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P; Saudubray, JM | 1 |
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| François, R; Later, R; Mamelle, JC; Mamelle, N; Masson, E; Moreau, P; Quincy, C; Site, J | 1 |
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| Cohen, BE; Crispin, M; Golan, R; Lavi, U; Peled, I; Szeinberg, A | 1 |
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43 review(s) available for tyrosine and BH4 Deficiency
| Article | Year |
|---|---|
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 |
PKU dietary handbook to accompany PKU guidelines.
Topics: Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 2020 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Placebos; Randomized Controlled Trials as Topic; Tyrosine | 2021 |
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 |
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 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine | 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 |
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 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Intelligence; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine | 2010 |
The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance, and maintenance versus manipulation-functions of working memory.
Topics: Age Factors; Analysis of Variance; Arousal; Attention; Child; Female; Humans; Male; Memory; Neuropsychological Tests; Neurotransmitter Agents; Orientation; Phenylketonurias; Prefrontal Cortex; Reaction Time; Research Design; Time Factors; Tyrosine | 2002 |
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine | 1965 |
Role of precursor availability in control of monoamine biosynthesis in brain.
Topics: Animals; Appetite; Blood Pressure; Brain; Brain Chemistry; Catecholamines; Diabetes Mellitus; Diet; Growth Hormone; Humans; Liver Cirrhosis; Methyldopa; Pain; Phenylketonurias; Protein Binding; Rats; Serotonin; Serum Albumin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 1983 |
Metabolic diseases and the skin.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Biotin; Child; Child, Preschool; Hartnup Disease; Homocystinuria; Humans; Infant; Infant, Newborn; Phenylketonurias; Skin Diseases; Tyrosine; Tyrosine Transaminase | 1983 |
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 |
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 |
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 |
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 |
Mesoprefrontal dopaminergic neurons: can tyrosine availability influence their functions?
Topics: Animals; Diabetes Mellitus, Experimental; Dopamine; Humans; Memory; Phenylketonurias; Prefrontal Cortex; Rats; Schizophrenia; Species Specificity; Tyrosine | 1997 |
Tyrosine supplementation for phenylketonuria.
Topics: Dietary Supplements; Humans; Phenylketonurias; Tyrosine | 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 |
Phenylketonuria: tyrosine beyond the phenylalanine-restricted diet.
Topics: Amino Acids, Neutral; Blood-Brain Barrier; Humans; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Prefrontal Cortex; Tyrosine | 2001 |
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 |
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 |
Metabolic syndromes with dermatologic manifestations.
Topics: Albinism; Alkaptonuria; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biotinidase; Carbohydrate Metabolism; Eczema; Hartnup Disease; Homocystinuria; Humans; Keratosis; Menkes Kinky Hair Syndrome; Metabolic Diseases; Phenylketonurias; Porphyrias; Skin Diseases; Steryl-Sulfatase; Sulfatases; Tyrosine; Urea | 1986 |
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 |
Detection of inborn errors of metabolism.
Topics: Amino Acids; Amniocentesis; Calcium; Chromatography; Copper; Creatinine; Erythrocytes; Female; Fetal Diseases; Glycosaminoglycans; Humans; Indoles; Infant, Newborn; Keto Acids; Leukocytes; Mass Screening; Metabolism, Inborn Errors; Methods; Oxalates; Phenylketonurias; Pregnancy; Pyruvates; Tyrosine; Urine | 1971 |
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Cystinosis; Diet Therapy; Galactose; Glucose; Histidine; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Maple Syrup Urine Disease; Phenylketonurias; Sucrose; Tyrosine | 1973 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 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 |
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 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1967 |
[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 |
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 |
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 |
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 |
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 |
Genetic and molecular basis of human hereditary diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Arthritis; Brain Diseases; Genetic Diseases, Inborn; Glycogen Storage Disease; Gout; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Nutrition Disorders; Phenylketonurias; Tyrosine | 1967 |
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 |
24 trial(s) available for tyrosine and BH4 Deficiency
| Article | Year |
|---|---|
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 |
Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Biological Availability; Caseins; Catecholamines; Cross-Over Studies; Diet; Female; Food, Formulated; Gastrointestinal Microbiome; Humans; Kynurenine; Male; Melatonin; Metabolic Networks and Pathways; Metabolomics; Middle Aged; Peptide Fragments; Phenylketonurias; Prebiotics; Serotonin; Tryptophan; Tyrosine; Young Adult | 2017 |
Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation.
Topics: Adult; Amino Acids, Neutral; Biomarkers; Chromatography, High Pressure Liquid; Cross-Over Studies; Dietary Supplements; Dopamine; Double-Blind Method; Female; Humans; Male; Melatonin; Middle Aged; Phenylketonurias; Serotonin; Treatment Outcome; Tryptophan; Tyrosine; Young Adult | 2014 |
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 |
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 |
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 |
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 |
'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 |
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 |
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 |
Tyrosine supplementation in phenylketonuria.
Topics: Adolescent; Adult; Child; Cross-Over Studies; Double-Blind Method; Humans; Phenylketonurias; Treatment Outcome; Tyrosine | 1997 |
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 |
Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids.
Topics: Adult; Amino Acids; Brain; Child; Female; Humans; Male; Phenylketonurias; Tyrosine | 2001 |
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 |
Cognition and tyrosine supplementation among school-aged children with phenylketonuria.
Topics: Child; Cognition; Double-Blind Method; Female; Humans; Male; Phenylketonurias; Tyrosine | 1992 |
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 |
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 |
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 |
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 |
[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 |
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 |
519 other study(ies) available for tyrosine and BH4 Deficiency
| Article | Year |
|---|---|
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 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 |
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 |
What are the effects of tyrosine supplementation for people with phenylketonuria? A Cochrane Review summary with commentary.
Topics: Dietary Supplements; Humans; Phenylketonurias; Tyrosine | 2022 |
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 |
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 |
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 |
[Early diagnosis of phenylketonuria. Physiopathology of the neuronal damage and therapeutic options].
Topics: Biopterins; Diet Therapy; Early Diagnosis; Humans; Neurons; Phenylalanine; Phenylketonurias; Tyrosine | 2019 |
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 |
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 |
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 |
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Case-Control Studies; Child; Dietary Supplements; Female; Follow-Up Studies; Homeostasis; Humans; Longitudinal Studies; Male; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Tyrosine; Young Adult | 2020 |
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 |
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 |
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 |
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 |
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 |
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 |
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.
Topics: Adolescent; Adult; Biological Transport; Brain; Carbon Radioisotopes; Female; Humans; Linear Models; Male; Middle Aged; Phenylketonurias; Tyrosine; Young Adult | 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 |
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 |
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 |
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).
Topics: Amino Acids; Animals; Brain Chemistry; Cyclohexanones; Dopamine; Enzyme Inhibitors; Mice; Mice, Inbred C57BL; Mice, Knockout; Neurotransmitter Agents; Nitrobenzoates; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Tyrosine supplements for ADHD symptoms with comorbid phenylketonuria.
Topics: Attention Deficit Disorder with Hyperactivity; Child, Preschool; Dietary Supplements; Humans; Male; Phenylketonurias; Tyrosine | 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 |
Psychosocial issues and outcomes in maternal PKU.
Topics: Female; Humans; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria.
Topics: Animals; Catecholamines; Disease Models, Animal; Dopamine; Levodopa; Male; Mice; Mice, Mutant Strains; Phenylalanine Hydroxylase; Phenylketonurias; Prefrontal Cortex; Synaptic Transmission; Tyrosine; Tyrosine 3-Monooxygenase | 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 |
50 years ago in the Journal of Pediatrics: identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.
Topics: Heterozygote; Humans; Phenylketonurias; Prenatal Diagnosis; Tyrosine | 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 |
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 |
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 |
[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 |
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 |
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 |
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 |
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 |
Phenylalanine and tyrosine metabolism in patients with phenylketonuria.
Topics: Humans; Ketones; Phenylalanine; Phenylketonurias; Tyrosine; Urine | 1953 |
A possible mechanism for disturbance in tyrosine metabolism in phenylpyruvic oligophrenia.
Topics: Humans; Intellectual Disability; Phenylketonurias; Tyrosine | 1955 |
[Some experiments on phenylalanine- and tyrosine metabolism in a patient with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
[Investigations of phenylalanine and tyrosine metabolism in a child with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine | 1956 |
Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia.
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1957 |
Biochemical and pharmacological studies on o-tyrosine and its meta and para analogues; a suggestion concerning phenylketonuria.
Topics: Humans; Phenylketonurias; Tyrosine | 1957 |
Phenylketonuria: the phenylalanine-tyrosine ratio in the detection of the heterozygous carrier.
Topics: Biochemical Phenomena; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1958 |
Phenylalanine hydroxylation cofactor in phenylketonuria.
Topics: Biological Assay; Hydroxylation; Phenylalanine; Phenylketonurias; Tyrosine | 1958 |
Phenylpyruvic acid as a possible precursor of o-hydroxyphenylacetic acid in man.
Topics: Administration, Oral; Humans; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 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 |
[Phenylpyruvic idiocy and tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Intellectual Disability; Phenylketonurias; Tyrosine | 1962 |
Variations with age in plasma phenylalanine and tyrosine levels in phenylketonuria.
Topics: Humans; Phenylalanine; Phenylketonurias; Plasma; Tyrosine | 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 |
Delayed maturation of tyrosine metabolism in a full-term sibling of a child with phenylketonuria.
Topics: Child; Developmental Disabilities; Female; Humans; Metabolism; Phenylketonurias; Siblings; Term Birth; Tyrosine | 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 |
[Hereditary enzyme defects of amino acid metabolism].
Topics: Albinism; Alkaptonuria; Amino Acids; Humans; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proteins; Tryptophan; Tyrosine | 1962 |
THE INDUCTION OF TYROSYLURIA IN YOUNG RATS.
Topics: Animals; Ascorbic Acid; Guinea Pigs; Metabolism; Phenylketonurias; Phenylpyruvic Acids; Rats; Research; Tyrosine | 1963 |
[VALUE OF GUTHRIE'S INHIBITION TEST IN THE DETECTION OF PHENYLKETONURIA].
Topics: Bacteriological Techniques; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylketonurias; Serologic Tests; Tyrosine | 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 |
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 |
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 |
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 |
[FURTHER RESEARCH ON THYROID FUNCTION IN SUBJECTS WITH PHENYLPYRUVIC OLIGOPHRENIA. (EXAMINATION OF THYROID ACTIVITY AFTER STIMULATION WITH THYROTROPIN AND AFTER THIOURACIL BLOCK)].
Topics: Blood; Hypothyroidism; Intellectual Disability; Pharmacology; Phenylketonurias; Thiouracil; Thyroid Function Tests; Thyrotropin; Thyrotropin-Releasing Hormone; Tyrosine | 1964 |
BIOCHEMICAL CORRELATES IN RATS WITH PHENYLKETONURIA.
Topics: Blood; Brain Chemistry; Liver; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Rats; Research; Serotonin; Transaminases; Tyrosine | 1964 |
[CHANGES IN THE TRYPTOPHAN METABOLISM IN PHENYLKETONURIA].
Topics: Amino Acids; Blood; Body Fluids; Child; Humans; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine; Urine | 1964 |
THE ENZYMATIC BASIS OF TYROSYLURIA IN RATS FED TYROSINE.
Topics: Aging; Amino Acids; Diet; Hydrolases; Liver; Phenylketonurias; Rats; Research; Tyrosine; Tyrosine Transaminase | 1964 |
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 |
INBORN ERRORS OF METABOLISM.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Classification; Clinical Laboratory Techniques; Galactosemias; Genetics, Medical; Humans; Intellectual Disability; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Tyrosine | 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. III. The metabolism of o-tyrosine.
Topics: Acetates; Intellectual Disability; Phenylketonurias; Tyrosine | 1955 |
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 |
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 |
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 |
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 |
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Topics: Biopterins; Enzyme Stability; Humans; Kinetics; Models, Molecular; Mutagenesis, Site-Directed; Oxidation-Reduction; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 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 |
An oxygraphic method for determining kinetic properties and catalytic mechanism of aromatic amino acid hydroxylases.
Topics: Amino Acid Substitution; Animals; Biopterins; Electrodes; Humans; Kinetics; Oxygen; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Tyrosine | 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 |
Pathologic and immunohistochemical findings in hypothalamic and mesencephalic regions in the pah(enu2) mouse model for phenylketonuria.
Topics: Animals; Catecholamines; CD11b Antigen; Disease Models, Animal; Dopamine; Female; Gene Transfer Techniques; Genotype; Heterozygote; Homozygote; Hypothalamus; Immunohistochemistry; Macrophages; Male; Mesencephalon; Mice; Mice, Mutant Strains; Neurons; Nitric Oxide Synthase; Nitric Oxide Synthase Type II; Phenylketonurias; Substantia Nigra; Time Factors; Tryptophan; Tyrosine | 2005 |
Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR.
Topics: Amino Acids; Argininosuccinic Acid; Carbon Isotopes; Homocystinuria; Humans; Magnetic Resonance Spectroscopy; Phenylketonurias; Tyrosine | 2007 |
L-tyrosine. Monograph.
Topics: Attention Deficit Disorder with Hyperactivity; Depression; Food-Drug Interactions; Humans; Narcolepsy; Parkinson Disease; Phenylketonurias; Stress, Physiological; Tyrosine | 2007 |
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 |
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 |
The dangers of a successful PKU program.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Mass Screening; Phenylketonurias; Tyrosine | 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 |
Diagnosis and treatment: interpreting the positive screening test in the newborn infant.
Topics: Amino Acid Metabolism, Inborn Errors; Clinical Laboratory Techniques; Diagnosis, Differential; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylketonurias; Tyrosine | 1967 |
Diet therapy for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Coenzymes; Cystinuria; Diet Therapy; Hartnup Disease; Humans; Infant; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Tyrosine | 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 |
Phenylketonuria in rats: a model for biochemical studies.
Topics: Amino Acids; Animals; Carbon Isotopes; Humans; Male; Models, Theoretical; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1967 |
Paper chromatography of some weakly basic urine constituents and the estimation of urinary tyrosine.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystic Fibrosis; Humans; Hydrogen-Ion Concentration; Imidazoles; Phenylketonurias; Tyrosine | 1967 |
Determination of heterozygosity for phenylketonuria on the amino acid analyzer.
Topics: Autoanalysis; Buffers; Child; Heterozygote; Humans; Methods; Middle Aged; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
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 |
Catecholamines and congenital pain insensitivity.
Topics: Dopamine; Dysautonomia, Familial; Epinephrine; Hereditary Sensory and Autonomic Neuropathies; Humans; Lesch-Nyhan Syndrome; Levodopa; Norepinephrine; Pain Insensitivity, Congenital; Phenylketonurias; Skin; Tyrosine | 1984 |
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 |
Serotonin and dopamine synthesis in phenylketonuria.
Topics: Dopamine; Humans; Kinetics; Phenylalanine; Phenylketonurias; Serotonin; Tryptamines; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 1981 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
Presynaptic tyrosine availability in the phenylketonuric brain: a hypothetical evaluation.
Topics: Amino Acids; Animals; Brain; Cerebral Cortex; Humans; Kinetics; Phenylketonurias; Rats; Rats, Inbred Strains; Synapses; Synaptosomes; Tyrosine | 1983 |
Lack of fetal effect on blood phenylalanine concentration in maternal phenylketonuria.
Topics: Female; Fetal Blood; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine; Umbilical Arteries; Umbilical Veins | 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 |
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 |
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 |
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 |
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 |
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 |
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Germany, West; Homocystinuria; Humans; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Mass Screening; Phenotype; Phenylketonurias; Time Factors; Tyrosine | 1981 |
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines.
Topics: Amino Acid Metabolism, Inborn Errors; Cost-Benefit Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Sweden; Tyrosine | 1982 |
A simplified PKU gene carrier detection test using fasting blood.
Topics: Fasting; Genetic Carrier Screening; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Plasma phenylalanine, tyrosine, and tryptophan in schizophrenia.
Topics: Administration, Oral; Adult; Heterozygote; Humans; Infusions, Parenteral; Phenylalanine; Phenylketonurias; Schizophrenia; Tryptophan; Tyrosine | 1983 |
The metabolism of L-m-tyrosine: the use of a putative precursor to investigate the increased production of m-hydroxymandelic acid in phenylketonuria.
Topics: 2-Hydroxyphenethylamine; 3,4-Dihydroxyphenylacetic Acid; Adult; Female; Humans; Hydroxylation; Kinetics; Male; Mandelic Acids; Octopamine; Phenylacetates; Phenylketonurias; Tyrosine | 1983 |
[Problems posed by maternal phenylketonuria].
Topics: Brain; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tryptophan; Tyrosine | 1983 |
[The newborn infant of the phenylketonuric mother ].
Topics: Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylketonurias; Pregnancy; Pregnancy Complications; Risk; Tyrosine | 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 |
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 |
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 |
The pancreatic beta cell fraction in children with errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 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 |
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 |
Comparison of treated and untreated pregnancies in a mother with phenylketonuria.
Topics: Abortion, Spontaneous; Adult; Child; Child, Preschool; Female; Humans; Intellectual Disability; Microcephaly; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1982 |
The justification theory: the effect of tyrosine deficiency on tubulin synthesis in the brain.
Topics: Brain; Dietary Proteins; Female; Heterozygote; Humans; Intellectual Disability; Phenylketonurias; Pregnancy; Tubulin; Tyrosine | 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 |
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 |
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 |
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 |
[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 |
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 |
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 |
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 |
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 |
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 |
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 |
A new rearrangement reaction in tyrosine metabolism.
Topics: Chemical Phenomena; Chemistry; Chromatography, Gas; Deuterium; Feces; Humans; Mass Spectrometry; Phenylketonurias; Phenylpropionates; Tyrosine | 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 |
[Hereditary metabolic diseases in Quebec: blood screening].
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Quebec; Tyrosine | 1980 |
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 |
Phenylalanine and other amino acids in phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
Large daily fluctuations in plasma tyrosine in treated patients with phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Circadian Rhythm; Eating; Female; Food, Fortified; Humans; Infant; Infant, Newborn; Male; Phenylketonurias; Time Factors; Tyrosine | 1996 |
Tyrosine supplementation for phenylketonuria treatment.
Topics: Child; Child, Preschool; Food, Fortified; Humans; Infant; Infant, Newborn; Phenylketonurias; Tyrosine | 1996 |
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 |
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 |
Historical perspective: tyrosine and maternal phenylketonuria, welcome news.
Topics: Deficiency Diseases; Female; Heterozygote; Homozygote; Humans; Intellectual Disability; Intelligence; Phenylketonurias; Pregnancy; Tyrosine | 1998 |
Tyrosine supplementation in the treatment of maternal phenylketonuria.
Topics: Female; Humans; Maternal-Fetal Exchange; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1998 |
Reply to SP Bessman.
Topics: Diet; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1998 |
The advantage of phenylalanine to tyrosine ratio for the early detection of phenylketonuria.
Topics: Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Topics: Heterozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
"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 |
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 |
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 |
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 |
Treatable neurotransmitter deficiency in mild phenylketonuria.
Topics: Adolescent; Antioxidants; Biogenic Monoamines; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
Topics: 5-Hydroxytryptophan; Biogenic Amines; Carbidopa; Dopamine; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Intellectual Disability; Levodopa; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylketonurias; Probenecid; Seizures; Serotonin; Tyrosine | 1977 |
Letter: A variant of phenylketonuria.
Topics: Child; Child, Preschool; Humans; NADH, NADPH Oxidoreductases; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; Tyrosine | 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 |
Penylalanine hydroxylation in phenylketonuria.
Topics: Child; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 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 |
Phenylalanine hydroxylase in human placenta: novel system for study of phenylketonuria.
Topics: Female; Humans; Phenylalanine Hydroxylase; Phenylketonurias; Placenta; Pregnancy; Prenatal Diagnosis; Tyrosine | 1977 |
Low serum-tyrosine in patients with phenylketonuria on dietary treatment.
Topics: Adult; Child; Child, Preschool; Diet Therapy; Humans; Infant; Phenylketonurias; Tyrosine | 1977 |
Serum-tyrosine in patients with hyperphenylalaninaemia.
Topics: Adolescent; Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Fast blue salt B can detect phenylketonuria and tyrosinaemia in addition to methylmalonic acidaemia.
Topics: Coloring Agents; Diazonium Compounds; Humans; Malonates; Methylmalonic Acid; Phenylketonurias; Staining and Labeling; Tyrosine | 1979 |
Phenylketonuria in Indian children.
Topics: Brain Chemistry; Child, Preschool; Female; Humans; India; Infant; Male; Phenylalanine; Phenylketonurias; Sphingolipids; Tyrosine | 1978 |
In vivo inhibition of rat liver phenylalanine hydroxylase by p-chlorophenylalanine and Esculin. Experimental model of phenylketonuria.
Topics: Animals; Disease Models, Animal; Esculin; Female; Fenclonine; Flavonoids; Humans; Liver; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 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 |
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 |
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 |
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 |
[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 |
Assay of L-tyrosine in serum by amperometric measurement of tyrosinase-catalyzed oxygen consumption.
Topics: Adult; Catechol Oxidase; Child, Preschool; Evaluation Studies as Topic; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Kinetics; Methods; Microchemistry; Oxygen Consumption; Phenylketonurias; Spectrometry, Fluorescence; Time Factors; Tyrosine | 1975 |
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 |
Evaluation of a state-wide neonatal screening programme.
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Australia; Evaluation Studies as Topic; Follow-Up Studies; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
Quantitative field desorption mass spectrometry. V. Discussion of methodology and examples of applications.
Topics: Humans; Mass Spectrometry; Phenylketonurias; Tyrosine | 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 |
What to do with the Guthrie test report.
Topics: Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Screening for inborn errors of metabolism: a multiple test program.
Topics: Amino Acid Metabolism, Inborn Errors; Ferric Compounds; Humans; Intellectual Disability; Mathematics; Metabolism, Inborn Errors; Nitroso Compounds; Phenylketonurias; Tyrosine | 1978 |
The child with an unusual odor. A clinical resumé.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine | 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 |
Heterozygote detection in phenylketonuria.
Topics: Child, Preschool; Female; Heterozygote; Humans; Infant; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 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 |
Phenylketonuria: a new method for the simultaneous determination of plasma phenylalanine and tyrosine.
Topics: Humans; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Rhodotorula; Tyrosine | 1977 |
[Screening for hyperphenylalaninemia and hypertyrosinemia in the newborn].
Topics: Amino Acid Metabolism, Inborn Errors; France; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylketonurias; Tyrosine | 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 |
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 |
Hyperphenylalaninemias and tyrosinemias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1976 |
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Hair; Homocystinuria; Humans; Keratins; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
Prospects for a pharmacological treatment of phenylketonuria.
Topics: Anabolic Agents; Child; Child, Preschool; Female; Humans; Male; Phenylalanine; Phenylketonurias; Stanozolol; Tyrosine | 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 |
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 |
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Australia; Cystinuria; Ethnicity; Europe; Galactosemias; Genetics, Population; Hartnup Disease; Histidine; Homocystinuria; Humans; Inbreeding; Infant, Newborn; Israel; Japan; Maple Syrup Urine Disease; Mass Screening; New Zealand; North America; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
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 |
Determination of creatinine and ultraviolet-absorbing amino acids and organic acids in urine by reversed-phase high-performance liquid chromatography.
Topics: Acidosis; Acids; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Creatinine; Humans; Indicators and Reagents; Infant, Newborn; Metabolism, Inborn Errors; Oculocerebrorenal Syndrome; Phenylketonurias; Spectrophotometry, Ultraviolet; Tyrosine | 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 |
Prolactin responses to phenylalanine and tyrosine in phenylketonuria.
Topics: Adolescent; Adult; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prolactin; Reference Values; Tyrosine | 1992 |
Applications of automated amino acid analysis using 9-fluorenylmethyl chloroformate.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Chromatography, High Pressure Liquid; Drug Stability; Fluorenes; Humans; Indicators and Reagents; Male; Microchemistry; Phenylketonurias; Quality Control; Tyrosine; Tyrosine Transaminase | 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 |
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 |
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 |
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 |
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 |
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 |
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.
Topics: Adult; Female; Humans; Hydroxylation; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1990 |
L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans.
Topics: Adolescent; Akinetic Mutism; Biopterins; Child, Preschool; Humans; Infant; Levodopa; Methionine; NADH, NADPH Oxidoreductases; Phenylketonurias; Pyridoxine; S-Adenosylmethionine; Tetrahydrofolates; Tyrosine | 1990 |
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 |
Iatrogenic skin lesions in phenylketonuric children due to a low tyrosine intake.
Topics: Child; Humans; Iatrogenic Disease; Phenylketonurias; Skin; Skin Diseases; Tyrosine | 1989 |
Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria.
Topics: Drug Therapy, Combination; Humans; Phenylketonurias; Tryptophan; Tyrosine | 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 |
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 |
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 |
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 |
Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial origin.
Topics: Amino Acid Metabolism, Inborn Errors; Bacteria; Caproates; Child; Child, Preschool; Chromatography, Gas; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Lactates; Male; Phenylketonurias; Phenylpropionates; Stereoisomerism; Tyrosine | 1987 |
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 |
Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception.
Topics: Child; Child, Preschool; Female; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1988 |
State screening for metabolic disorders in newborns.
Topics: Adrenal Hyperplasia, Congenital; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Biotinidase; Congenital Hypothyroidism; Cystic Fibrosis; Galactosemias; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine; United States | 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 |
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 |
[Trial of indirect screening of tetrahydrobiopterin deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
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 |
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 |
[Laboratory examinations for inborn errors of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Computers; Congenital Hypothyroidism; Galactosemias; Gas Chromatography-Mass Spectrometry; Homocystinuria; Humans; Japan; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading.
Topics: Female; Genetic Carrier Screening; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Hyperphenylalaninemia in Polish children's population.
Topics: Diagnosis, Differential; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Poland; Tyrosine | 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 |
A cost-benefit analysis of the Quebec Network of Genetic Medicine.
Topics: Biomedical Research; Cost-Benefit Analysis; Female; Genetic Diseases, Inborn; Genetic Techniques; Genetic Testing; Humans; Hypothyroidism; Infant; Infant, Newborn; Phenylketonurias; Pregnancy; Quebec; Tay-Sachs Disease; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
Problems in screening infants for defects of amino acid metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Color; Cystinuria; Evaluation Studies as Topic; Humans; Indicators and Reagents; Infant; Infant, Newborn; Infant, Premature; Mass Screening; Phenylketonurias; Rickets; Staining and Labeling; Tyrosine | 1973 |
[Method of detection of heterozygotic carrier state in phenylketonuria].
Topics: Adult; Child; Genetic Counseling; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
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 |
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 |
[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 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 |
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 |
[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 |
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 |
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 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine | 1967 |
Screening for disorders of amino acid metabolism by thin-layer high voltage electrophoresis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Analgesics; Anti-Inflammatory Agents; Chromatography, Thin Layer; Cystinuria; Electrophoresis; Humans; Hydrogen-Ion Concentration; Indicators and Reagents; Indoles; Mass Screening; Membranes; Methods; Phenylketonurias; Silicon Dioxide; Sulfates; Tyrosine | 1968 |
[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 |
[Dietetics of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine | 1971 |
The source of aromatic ketoacids in tyrosinaemia and phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Haplorhini; Humans; Isoenzymes; Keto Acids; Kidney; Liver; Mitochondria; Mixed Function Oxygenases; Muscles; Myocardium; Phenols; Phenylketonurias; Phenylpyruvic Acids; Rats; Tyrosine; Tyrosine Transaminase | 1972 |
The origin of urinary p-hydroxyphenylpyruvate in a patient with hepatic cytosol tyrosine aminotransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Cytoplasm; Humans; Imidazoles; Liver; Phenols; Phenylketonurias; Phenylpyruvic Acids; Spectrophotometry, Ultraviolet; Tyrosine; Tyrosine Transaminase | 1972 |
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 |
Urinary metabolic studies in hereditary macular degeneration.
Topics: Albuminuria; Amino Acids; Carbohydrates; Cystinuria; Electrophoresis, Paper; Female; Glycosuria; Histidine; Humans; Keto Acids; Male; Pedigree; Phenylketonurias; Retinal Degeneration; Syndrome; Tyrosine | 1974 |
Neonatal screening for phenylketonuria. I. Effectiveness.
Topics: Age Factors; False Negative Reactions; Female; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Minority Groups; Ontario; Phenylketonurias; Quebec; Sex Factors; Surveys and Questionnaires; Time Factors; Tyrosine; United States | 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 |
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 |
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 |
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 |
[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 |
[Diet therapy of some inborn errors of metabolism].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine | 1974 |
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Carbon Isotopes; Chemical Phenomena; Chemistry; Cysteine; Enzyme Activation; Female; Fetus; Haplorhini; Humans; Hydrogen-Ion Concentration; Kidney; Liver; Mixed Function Oxygenases; Opossums; Organ Specificity; Oxygen; Phenols; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Salmon; Species Specificity; Spectrophotometry, Ultraviolet; Tyrosine | 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 |
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 |
Neuropathological study of aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Middle Aged; Phenylketonurias; Renal Tubular Transport, Inborn Errors; Sex Factors; Tyrosine; Urea | 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 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine | 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 |
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 |
[Screening results for inborn errors of metabolism in Western Europe].
Topics: Denmark; Europe; Evaluation Studies as Topic; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; International Cooperation; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Preventive Medicine; Switzerland; Tyrosine; United Kingdom | 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 |
Urinary phenylalanine excretion in hyperphenylalaninemic children.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Collective results of mass screening for inborn metabolic errors in eight European countries.
Topics: Belgium; Denmark; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Switzerland; Tyrosine; United Kingdom | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
[Detection of hereditary metabolic diseases in Quebec].
Topics: Amino Acid Metabolism, Inborn Errors; Fluorometry; Galactosemias; Government Agencies; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Quebec; Radioimmunoassay; Tyrosine | 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 |
[Centralized PKU treatment in Denmark].
Topics: Child; Child, Preschool; Denmark; Diet Therapy; Hospitals, Special; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Psychological Tests; Tyrosine | 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 |
Letter: Frequency of some metabolic disorders in Poland.
Topics: Biological Assay; Galactosemias; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Poland; Tyrosine | 1974 |
[Attempted physiopathologic interpretation of phenylketonuria (PKU)].
Topics: Brain; Citric Acid Cycle; Humans; Hydroxylation; Mitochondria; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 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 |
"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 |
Screening for inborn errors of metabolism. Report of a WHO Scientific Group.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Carrier State; Ceruloplasmin; Cholinesterases; Cystic Fibrosis; Diagnostic Services; Female; Galactosemias; Genetic Diseases, Inborn; Hepatolenticular Degeneration; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Porphyrias; Tyrosine; World Health Organization | 1968 |
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 |
[Biochemistry of phenylketonuria].
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
[Therapy of phenylketonuria].
Topics: Diet Therapy; Humans; Methionine; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 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 |
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.
Topics: Acetates; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Chromatography, Gas; Diet Therapy; Ethanol; Hippurates; Homogentisic Acid; Humans; Lactates; Mandelic Acids; Methods; Phenols; Phenylacetates; 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 |
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 |
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 |
[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 |
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 |
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 |
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 |
Genetic failure of fetal amino acid "justification": a common basis for many forms of metabolic, nutritional, and "nonspecific" mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Developing Countries; Dietary Proteins; Female; Fetus; Heterozygote; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Nutrition Disorders; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Protein Biosynthesis; Tyrosine | 1972 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine | 1972 |
[Hyperphenylalaninemia with cerebral damage].
Topics: Brain Damage, Chronic; Child; Female; Glomerular Filtration Rate; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
[Treatment of amino acid metabolism anomalies].
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Phenylketonurias; Tyrosine | 1971 |
Detection of phenylketonuric heterozygotes.
Topics: Chromatography, Ion Exchange; Female; Heterozygote; Humans; Indicators and Reagents; Methods; Phenylalanine; Phenylketonurias; Population Surveillance; Pregnancy; Tyrosine | 1971 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 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 |
A variant form of branched-chain keto aciduria.
Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine | 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 |
Plasma amino acid screening in the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Infant, Newborn; Mass Screening; Methods; Phenylketonurias; Tyrosine | 1971 |
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Hyperlipidemias; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylketonurias; Proline; Tyrosine | 1971 |
Problems of phenylketonuria.
Topics: Child, Preschool; Chromatography, Thin Layer; Humans; Infant; Infant, Newborn; Mandelic Acids; Mass Screening; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 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 |
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 |
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 |
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 |
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 |
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 |
Studies on urinary phenolic compounds in man. I. Excretion of p-hydroxy-mandelic acid by man.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Disulfiram; Humans; In Vitro Techniques; Mandelic Acids; Methyldopa; Neuroblastoma; Octopamine; Phenelzine; Phenylketonurias; Thyroxine; Triiodothyronine; Tyrosine; Urine | 1965 |
[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 |
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 |
[A case of "classical" phenylketonuria with average intelligence].
Topics: Aged; Female; Humans; Intelligence; Male; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Clinical and biochemical observations of patients with atypical phenylketonuria.
Topics: Child, Preschool; Female; Humans; Infant; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
[Phenylalanine tolerance tests].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
Glutamine in the phenylketonuric central nervous system.
Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; Glutamine; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Phenylketonurias; Serine; Threonine; Tyrosine | 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 |
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 |
Studies in the tyrosine metabolism of phenylketonurics.
Topics: Adult; Child; Female; Humans; Male; Phenylketonurias; Tyrosine | 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 |
Studies in the tyrosine metabolism of phenylketonurics.
Topics: Adult; Child; Female; Humans; Male; Phenylketonurias; Tyrosine | 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 |
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 |
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 |
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 |
[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 |
[Are heterozygotes in phenylketonuria always normal?].
Topics: Child; Child, Preschool; Electroencephalography; Epilepsy; Heterozygote; Humans; Intellectual Disability; Intelligence Tests; Phenylketonurias; Physical Exertion; Tyrosine | 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 |
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 |
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 |
[Phenylpyruvic oligophrenia and tyrosinosis. Biochemical research on one family (apropos of a family originally from a village in Southern Italy)].
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Italy; Male; Middle Aged; Pedigree; Phenylketonurias; Tyrosine | 1967 |
[Current views on therapy of some dysmetabolic oligophrenias].
Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 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 |
Transient tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Phenylketonurias; Terminology as Topic; Tyrosine | 1968 |
Phenylketonuria. Mass screening of newborns in Ireland.
Topics: Chromatography; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ireland; Mass Screening; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Transient hyperphenylalaninemia.
Topics: Child, Preschool; Diagnosis, Differential; Diet Therapy; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
Gas chromatographic measurement of phenolic acids and alcohols in human urine.
Topics: Adult; Alkaptonuria; Chromatography, Gas; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mandelic Acids; Methods; Neuroblastoma; Phenols; Phenylacetates; Phenylketonurias; Pheochromocytoma; Silicones; Tyrosine | 1968 |
Heterogeneity in genetic control of phenylalanine metabolism in man.
Topics: Child, Preschool; Heterozygote; Humans; Infant; Molecular Biology; Phenylalanine; Phenylketonurias; Tyrosine; Veins | 1968 |
[Thin-layer chromatographic diagnosis of phenylketonuria].
Topics: Chromatography, Thin Layer; Fluorometry; Humans; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 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 |
[L-tryptophan metabolism in phenylketonuria].
Topics: Adolescent; Adult; Child; Diet Therapy; Female; Humans; Indoles; Kynurenine; Male; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 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 |
Daily rhythm in plasma tyrosine and phenylalanine.
Topics: Animals; Circadian Rhythm; Corticosterone; Diet; Humans; Hydrocortisone; Male; Methods; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 1968 |
[Heterozygote identification in phenylketonuria].
Topics: Heterozygote; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
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 |
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 |
Fluorometric determination of tyrosine.
Topics: Adolescent; Adult; Child; Drug Stability; Female; Fluorometry; Humans; Indicators and Reagents; Infant; Infant, Newborn; Male; Methods; Phenylketonurias; Pregnancy; Time Factors; Tyrosine | 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 |
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 |
Investigation of ketoacidurias by two-dimensional paper chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Diet; Female; Histidine; Humans; Infant; Keto Acids; Male; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 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 |
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 |
[Biochemical and analytical bases of the exploration of phenylalanine metabolism].
Topics: Humans; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 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 |
[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 |
Tolerance of phenylalanine after ntravenous administration in phenylketonurics, heterozygous carriers, and normal adults.
Topics: Adult; Drug Tolerance; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 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 |
Phenylketonuria: a study of human bichemical genetics.
Topics: Biochemical Phenomena; Biochemistry; Blood; Brain Chemistry; Carboxy-Lyases; Child; Child, Preschool; Diet Therapy; Female; Humans; In Vitro Techniques; Infant; Infant, Newborn; Intelligence Tests; Liver; Male; Mass Screening; Phenylketonurias; Serotonin; Tyrosine | 1966 |
Phenylalanine deficiency syndrome.
Topics: Deficiency Diseases; Diet Therapy; Female; Hematocrit; Hemoglobins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
Detection of phenylketonuria in newborn infants.
Topics: Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 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 |