Page last updated: 2024-08-21

sapropterin and BH4 Deficiency

sapropterin has been researched along with BH4 Deficiency in 432 studies

Research

Studies (432)

Timeframe	Studies, this research(%)	All Research%
pre-1990	55 (12.73)	18.7374
1990's	42 (9.72)	18.2507
2000's	140 (32.41)	29.6817
2010's	167 (38.66)	24.3611
2020's	28 (6.48)	2.80

Authors

Authors	Studies
Almeida, MF; Bandeira, A; Barbosa, CS; Carmona, C; Guimas, A; Kanufre, V; MacDonald, A; Martins, E; Pinto, A; Ribeiro, R; Rocha, JC; Rocha, S	1
Bratkovic, D; Margvelashvili, L; Nisbet, J; Smith, N; Tchan, MC	1
Anjanappa, R; Arunachal, G; Bhat, M; Chandra, SR; Christopher, R; Dhar, D; Gowda, VK; Kamate, M; Mahale, R; Mathuranath, PS; Nagappa, M; Padmanabha, H; Pooja, M; Ray, S; Sreedharan, S	1
Hara, S; Hara, Y; Horiguchi, M; Ichinose, H; Inoue, KI; Kondo, K; Miyajima, K; Miyakawa, T; Mori-Kojima, M; Sanechika, S; Sudo, Y; Sugimoto, M; Sumi-Ichinose, C; Suzuki, M; Takada, M; Takao, K; Takebayashi, H; Tanda, K; Xu, F; Yoshioka, N	1
Eshraghi, P; Hamzehloei, T; Khaghani, F	1
Fu, Q; Lin, W; Lin, Y; Su, R; Wang, G; Zheng, Z	1
Evers, RAF; Huijbregts, SCJ; Leuzzi, V; MacDonald, A; van Spronsen, FJ; van Wegberg, AMJ	1
Cai, Y; Feng, M; Gao, J; Jiang, S; Liang, D; Meng, Y; Qin, H; Shu, R; Xu, M; Zhang, D	1
Çıkı, K; Coşkun, T; Dursun, A; Kahraman, AB; Özgül, RK; Sivri, S; Tokatlı, A; Yıldız, Y	1
Heiner-Fokkema, MR; Lubout, CMA; Rodenburg, IL; van der Klauw, MM; van Ginkel, WG; van Spronsen, FJ; van Vliet, K; Wolffenbuttel, BHR	1
Anjema, K; Blau, N; Evers, RAF; Lubout, CMA; van Dam, E; van Spronsen, FJ; van Vliet, D; van Wegberg, AMJ	1
Campistol Plana, J	1
Dobrowolski, SF; Guldberg, P; Güttler, F; Levy, HL; Martell, L; Rajabi, F; Rohr, F; Wessel, A	1
Anastosoaie, V; Baker, JL; DiBona, K; Hawthorne, S; Kinch, D; Lamppu, D; Levy, H; Lindenberger, J; McIlduff, M; Seymour, A; Vockley, J; Watling, S	1
de Vries, MC; Evers, RAF; Heiner-Fokkema, MR; Janssen, MCH; van Dam, E; van Spronsen, FJ; van Wegberg, AMJ	1
Choo, T; Clelland, CL; Clelland, JD; Kantrowitz, JT; Lieberman, JA	1
Artuch, R; Assmann, B; Burlina, A; Cortès-Saladelafont, E; Friedman, J; García-Cazorla, A; Goez, H; Heales, S; Hoffmann, GF; Honzík, T; Horvath, G; Jeltsch, K; Kulhánek, J; Kurian, MA; Kuseyri Hübschmann, O; Leuzzi, V; López-Laso, E; Mastrangelo, M; Opladen, T; Pearson, TS; Pons, R; Pope, S; Porta, F; Regal, L; Scholl-Bürgi, S; Sivri, HS; Thöny, B; Verbeek, MM; Wassenberg, T; Yildiz, Y	1
Anikster, Y; Belanger-Quintana, A; Blau, N; Bonfim-Freitas, PE; Burlina, A; Burton, BK; Carducci, C; Chiesa, AE; Christodoulou, J; Desviat, LR; Eliyahu, A; Evers, RAF; Fajkusova, L; Feillet, F; Garbade, SF; Giżewska, M; Gundorova, P; Hillert, A; Hoffmann, GF; Karall, D; Kneller, K; Kutsev, SI; Leuzzi, V; Levy, HL; Lichter-Konecki, U; Muntau, AC; Namour, F; Oltarzewski, M; Paras, A; Perez, B; Polak, E; Polyakov, AV; Porta, F; Rohrbach, M; Santana-da Silva, LC; Scholl-Bürgi, S; Shen, N; Skouma, A; Spécola, N; Stojiljković, M; Stoppioni, V; Thöny, B; Trefz, FK; van Spronsen, F; Vockley, J; Yu, Y; Zschocke, J; Đorđević, M	1
Berson, P; Billou, L; Bourguignon, MP; Crespo, C; Gosgnach, W; Lapret, I; Lucats, L; Moreau, K; Ragonnet, L; Royere, E; Simonet, S; Vayssettes-Courchay, C	1
Endo, F; Ida, H; Ito, T; Kure, S; Matsubara, Y; Matuo, M; Nakamura, K; Ohura, T; Okano, Y; Okuyama, T; Owada, M; Shintaku, H; Takayanagi, M; Yoshino, M	1
Burton, BK; Feigenbaum, A; Konczal, LL; Lilienstein, J; Longo, N; McCandless, SE; Rowell, R; Sanchez-Valle, A; Waisbren, S; Whitehall, KB	1
Sakai, N	1
Havranek, B; Islam, SM; Lopez, A; Papadantonakis, GA	1
Ahring, K; Beblo, S; Bélanger-Quintana, A; Bosch, AM; Burlina, A; Campistol, J; Coskun, T; Evers, RAF; Feillet, F; Giżewska, M; Huijbregts, SCJ; Kearney, S; Langeveld, M; Leuzzi, V; MacDonald, A; Maillot, F; Muntau, AC; Rocha, JC; Romani, C; Trefz, FK; van Spronsen, FJ; van Wegberg, AMJ	1
Burgerhof, J; de Vries, MC; Evers, R; Heiner-Fokkema, MR; Janssen, M; van Dam, E; van Spronsen, FJ; van Wegberg, A	1
Gökmen-Özel, H; Ilgaz, F; Karabulut, E; Kuhn, M; MacDonald, A; Marsaux, C; Pinto, A; Rohde, C; Singh, R	1
Alaei, M; Barzegari, M; Esmaeilizadeh, Z; Farsian, P; Khani, S; Khatami, S; Mirzazadeh, R; Rohani, F; Sadeghi, S; Salehpour, S; Samavat, A; Setoodeh, A; Zekri, A	1
Chikada, S; Kakurai, Y; Seki, S; Tamura, M; Wada, K	1
Blau, N; Calin, GA; Chatterjee, SS; Coarfa, C; Egranov, SD; Feillet, F; Guéant, JL; Gunaratne, PH; Han, L; Hawke, DH; Hsiao, H; Hu, Q; Hung, MC; Jun, Y; Li, C; Li, Y; Li, YC; Liang, K; Liao, L; Lin, C; Muntau, AC; Namour, F; Nguyen, TK; Pan, Y; Putluri, N; Schiff, M; Sutton, VR; Tan, Z; Tsai, KL; Xing, Z; Xu, J; Yang, L; Ye, Y; Zhang, S; Zhang, Y; Zhang, Z	1
Bosch, AM; Brouwers, MCGJ; de Sonneville, LMJ; de Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Legemaat, AM; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ	1
Angeloni, A; Blau, N; Carducci, C; Chiarotti, F; Leuzzi, V; Nardecchia, F; Santagata, S; Valentini, G	1
Bulut, FD; Ceylaner, S; Kör, D; Mungan, NÖ; Yılmaz, BŞ	1
Jaffe, EK	1
Ponzone, A; Porta, F; Spada, M	1
Gu, X; Han, L; Liang, L; Qiu, W; Ye, J; Zhang, H; Zhu, T	1
Dyer, C	1
Chaiyasap, P; Ittiwut, C; Sangsin, A; Shotelersuk, V; Srichomthong, C; Suphapeetiporn, K	1
Ah Mew, N; Ayyub, O; Lyons, K; Rasberry, M; Viall, S	1
Chang, AM; Feng, Y; Gao, JJ; Shi, XF; Shi, Y; Wang, P; Yan, H; Zhang, Z; Zhu, LL	1
Borsch, J; Büttner, L; Danecka, MK; Eichinger, A; Gersting, SW; Möglich, T; Muntau, AC; Woidy, M	1
Bruggemann, N; Giżewska, M; Karall, D; Klein, C; Knerr, I; Krzywińska-Zdeb, E; Kuseyri, O; Leuzzi, V; Monavari, AA; Opladen, T; Romanowska, H; Scholl-Bürgi, S; Weissbach, A; Yapıcı, Z	1
Desviat, LR; Djordjevic, M; Klaassen, K; Pavlovic, S; Perez, B; Skakic, A; Stojiljkovic, M	1
Aldámiz-Echevarría, L; Correcher, P; Couce, ML; De Castro, MJ; Fernández-Marmiesse, A; Hermida, A; Leis, R; Martínez-Olmos, M; Roca, I; Sánchez-Pintos, P; Vitoria, I	1
Bosch, AM; Brouwers, MCGJ; De Sonneville, LMJ; De Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Rubio-Gozalbo, ME; Simons, QA; Van der Meere, JJ; Van der Ploeg, AT; Van Spronsen, FJ	1
Awan, FR; Ayesha, H; Khan, HN; Wasim, M	1
de Vries, MC; Evers, RAF; Janssen, MCH; van Dam, E; van Spronsen, FJ; van Wegberg, AMJ	1
Jiang, H; Li, L; Li, M; Liu, Y; Muhetaer, A; Qin, Y; Rejiafu, N; Ren, Y; Su, Y	1
Chen, T; Jiang, P; Shu, Q; Zhao, Z	1
du Moulin, M; Feillet, F; Muntau, AC	1
Dotsikas, Y; Loukas, YL; Manta-Vogli, PD; Schulpis, KH	1
Brantley, KD; Douglas, TD; Singh, RH	1
Kure, S; Shintaku, H	1
Chen, C; Cui, Y; Li, M; Ma, L; Qu, J; Wang, E; Yang, T; Zhou, Y	1
Carvalho, LM; Lacerda, L; Laranjeira, F; Mineiro, N; Quelhas, D; Ribeiro, I; Ribeiro, MG; Seabra, A; Vieira Neto, E	1
Afroze, B; Ahmed, S; Ali, ZZ; Jafri, L; Khan, AH; Majid, H	1
Adams, DJ; Bélanger-Quintana, A; Bhattacharya, K; Bushueva, TV; Cerone, R; Chien, YH; Chiesa, A; Coşkun, T; de Las Heras, J; Feillet, F; Katz, R; Lagler, F; Muntau, AC; Piazzon, F; Rohr, F; van Spronsen, FJ; Vargas, P; Wilcox, G	1
Alcorlo-Pagés, M; Fernandez-Leiro, R; Flydal, MI; Hermoso, JA; Johannessen, FG; Martinez, A; Martínez-Caballero, S; Skjærven, L	1
Csicsay, F; Kadasi, L; Kluckova, D; Krahulec, J; Pecimonova, M; Procházkova, D; Reblova, K; Skultety, L; Soltysova, A	1
Clelland, CL; Clelland, JD; Cremers, S; Smeed, J	1
Bagheri, S; Chalak, V; Eshraghi, P; Noroozi Asl, S	1
Evers, RAF; van Spronsen, FJ; van Vliet, D	1
Bjerrum, OJ; Dalbøge, LS; Dupont, E; Heegaard, AM; Jensen, TS; Larsen, M; Møller, AT; Møller, LB; Nasser, A	1
Andria, G; Burlina, A; Cerone, R; Giovannini, M; Leuzzi, V; Riva, E	1
Flydal, MI; Martinez, A	1
Bóveda, MD; Couce, ML; Desviat, LR; Fernández-Marmiesse, A; Fraga, JM; Mirás, A; Pérez, B	1
Blau, N; Cotton, RG; Heintz, C	1
Hussein, D; Nandi, M; Starr, A	1
Endo, W; Hino-Fukuyo, N; Kobayashi, T; Kure, S; Nakayama, T; Sakamoto, O; Sato, H; Shintaku, H; Uematsu, M	1
Anjema, K; Bélanger-Quintana, A; Billette de Villemeur, T; Blau, N; Bosch, AM; Burlina, A; Cerone, R; Couce, ML; Damaj, L; Feillet, F; Giovannini, M; Keil, S; Kern, I; Lambruschini, N; Leuzzi, V; Lotz-Havla, AS; Meli, CA; Muntau, AC; Riva, E; van Spronsen, FJ	1
Blau, N	3
Bernhard, D; Douglas, TD; Jinnah, HA; Singh, RH	1
Cmelova, E; Ficek, A; Kadasi, L; Kantarska, D; Polak, E; Radvanszky, J; Soltysova, A; Urge, O	1
Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Llarena, M; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I	1
Anjema, K; Blau, N; Boelen, CC; Bosch, AM; Burgerhof, JG; de Vries, MC; Heiner-Fokkema, MR; Hofstede, FC; Hollak, CE; Janssen, MC; Rubio-Gozalbo, E; van Rijn, M; van Spronsen, FJ	1
Bonnemains, C; Feillet, F	1
Antenor-Dorsey, JA; Christ, SE; Grange, DK; Hershey, T; McKinstry, RC; Rutlin, J; Shimony, JS; White, DA	1
Armengol, L; Cornejo, V; Desviat, LR; Escaramis, G; Estivill, X; González, J; Navarrete, R; Ossowski, S; Perez, B; Tornador, C; Trujillano, D; Ugarte, M	1
Homma, D; Ichinose, H; Kondo, K; Nomura, T; Sumi-Ichinose, C	1
Bélanger-Quintana, A; Bettiol, E; Blau, N; Burlina, A; Cleary, M; Feillet, F; Gasteyger, C; Giżewska, M; MacDonald, A; Muntau, AC; Trefz, F; van Spronsen, FJ	1
Boelen, CC; Bosch, AM; de Vries, M; Demirdas, S; Grootenhuis, MA; Hofstede, FC; Janssen, MC; Langendonk, JG; Maurice-Stam, H; Mulder, MF; Rubio-Gozalbo, ME; van Spronsen, FJ	1
Blank, RD; Hansen, KE; Ney, DM	1
Derrick, M; Jiang, R; Luo, K; Tan, S; Vásquez-Vivar, J; Yu, L	1
Bik-Multanowski, M; Chrobot, A; Cichy, W; Didycz, B; Gizewska, M; Kaluzny, L; Lange, A; Mikoluc, B; Mozrzymas, R; Oltarzewski, M; Pietrzyk, JJ; Starostecka, E; Szymczakiewicz-Multanowska, A; Ulewicz-Filipowicz, J	1
Douglas, TD; Kable, JA; Ramakrishnan, U; Singh, RH	1
Andersson, HC; Antshel, KM; Berry, SA; Braverman, NE; Burton, BK; Frazier, DM; Mitchell, J; Smith, WE; Thompson, BH; Vockley, J	1
Acosta, PB; Berry, GT; Bilder, DA; Blau, N; Bodamer, OA; Brosco, JP; Brown, CS; Burlina, AB; Burton, BK; Camp, KM; Chang, CS; Coates, PM; Cunningham, AC; Dobrowolski, SF; Ferguson, JH; Franklin, TD; Frazier, DM; Grange, DK; Greene, CL; Groft, SC; Harding, CO; Howell, RR; Huntington, KL; Hyatt-Knorr, HD; Jevaji, IP; Levy, HL; Lichter-Konecki, U; Lindegren, ML; Lloyd-Puryear, MA; MacDonald, A; Matalon, K; McPheeters, ML; Mitchell, JJ; Mofidi, S; Moseley, KD; Mueller, CM; Mulberg, AE; Nerurkar, LS; Ogata, BN; Pariser, AR; Parisi, MA; Prasad, S; Pridjian, G; Rasmussen, SA; Reddy, UM; Rohr, FJ; Singh, RH; Sirrs, SM; Stremer, SE; Tagle, DA; Thompson, SM; Urv, TK; Utz, JR; van Spronsen, F; Vockley, J; Waisbren, SE; Weglicki, LS; White, DA; Whitley, CB; Wilfond, BS; Yannicelli, S; Young, JM	1
Cen, Z; Cui, S; Gu, Y; Hao, J; Huang, J; Lin, L; Lu, K; Peng, J; Yang, G; Yang, Z; Yu, L	1
Greene, CL; Longo, N	1
Blau, N; Carducci, C; Shen, N	1
Abreu-González, M; Alcántara-Ortigoza, MA; Barrientos-Ríos, R; Fernández-Lainez, C; González-del Angel, A; Guillén-López, S; Ibarra-González, I; Monroy-Santoyo, S; Vela-Amieva, M	1
Yang, Y; Ye, Y	1
Gu, X; Ye, J	1
Ohura, T; Shintaku, H	1
Burton, BK; Dimmock, D; Feigenbaum, A; Jurecki, E; Lang, W; Longo, N; Prasad, S; Siriwardena, K; Stockler, S; Waisbren, S; Zhang, C	1
Cao, Z; Han, B; Liu, Y; Zhu, W; Zou, H	1
Azen, CG; Moseley, KD; Ottina, MJ; Yano, S	1
Merilainen, M; Mould, DR; Musson, DG; Qi, Y; Zhou, H	1
Anjema, K; de Groot, MJ; Derks, TG; Heiner-Fokkema, MR; Jahja, R; Kema, IP; Liemburg, GB; van der Zee, EA; van Spronsen, FJ; van Vliet, D	1
Brown, M; Charette, K; Levy, HL; Rohr, F; Wessel, A	1
Burlina, AB; Burlina, AP; Cazzorla, C; Cegolon, L; Celato, A; Daniele, A; Giordano, L; Massa, P; Polo, G; Salvatore, F	1
Apatean, D; Cheng, B; Giezen, A; Ho, G; Lillquist, Y; Salvarinova, R; Stockler-Ipsiroglu, S; Ueda, K; Yuskiv, N	1
Burton, B; Feigenbaum, A; Gillis, J; Grant, M; Hendren, R; Lang, W; Merilainen, M; Phillips, J; Prasad, S; Sanchez-Valle, A; Singh, R; Siriwardena, K; Stahl, S; Waisbren, S; Yu, S; Zhang, C	1
Akhmadeeva, ÉN; Alimova, IL; Bazhenova, IuL; Borovik, TÉ; Bushueva, TV; Filimonova, MN; Garifullina, ÉR; Kostiakova, EA; Kovtun, OP; Kuzenkova, LM; Mardanova, AK; Minaĭcheva, LI; Nazarenko, LP; Pichkur, NA; Rozenson, OL; Saliukova, OA; Samonenko, NV; Seitova, GN; Shkurko, TA; Sivokha, VM	1
Blau, N; Longo, N	1
Arnold, GL; Cohen-Pfeffer, JL; Enns, GM; Ficicioglu, C; Longo, N; Parker, S; Pridjian, G	1
Bélanger-Quintana, A; Blau, N; Feillet, F; Lichtenberger, O; Munafo, A; Muntau, AC; Trefz, F; van Spronsen, F	1
Andria, G; Bonapace, G; Capaldo, B; Concolino, D; Daniele, A; Della Casa, R; Nastasi, A; Paladino, S; Parenti, G; Ruoppolo, M; Scala, I; Strisciuglio, P; Ungaro, C	1
Merrin, M; Somaraju, UR	3
Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Llarena, M; Peña-Quintana, L; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I	1
Bafunno, V; D'Andrea, G; De Girolamo, G; Dimatteo, C; Leccese, A; Lillo, V; Longo, V; Margaglione, M; Papadia, F; Santacroce, R; Trunzo, R	1
Channon, KM; Chuaiphichai, S; McNeill, E; Nandi, M; Starr, A	1
Deng, Y; Jia, H; Jin, X; Li, N; Li, X; Liu, Z; Song, J; Tao, J; Zhu, J	1
Ahring, K; Almeida, MF; Belanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coskum, T; Dokoupil, K; Evans, S; Feillet, F; Giżewska, M; Gokmen Ozel, H; Kamieńska, E; Lammardo, AM; Lotz-Havla, AS; MacDonald, A; Maillot, F; Muntau, AC; Puchwein-Schwepcke, A; Robert, M; Rocha, JC; Santra, S; Skeath, R; Strączek, K; Trefz, FK; van Dam, E; van Rijn, M; van Spronsen, F; Vijay, S	1
Harding, CO; Scherer, T; Thöny, B; Winn, SR	1
Arnoux, JB; Barth, M; Battaglia-Hsu, SF; Bédu, A; Besson, G; Broué, P; Cano, A; Chéry, C; de Parscau, L; Dumesnil, C; Feillet, F; Fouilhoux, A; Gay, C; Guéant, JL; Herbeth, B; Jeannesson-Thivisol, E; Kuster, A; Labarthe, F; Lamireau, D; Lenaerts, C; Maillot, F; Masurel, A; Mention, K; Namour, F; Odent, S; Perrin, P; Terral, D; Wagner, K	1
Blau, N; Heintz, C; Hoffmann, GF; Okun, JG; Shen, N; Thiel, C	1
Anjema, K; Boelen, CC; Bosch, AM; de Vries, MC; Hofstede, FC; Rubio-Gozalbo, ME; van Rijn, M; van Spronsen, FJ	1
Battelino, T; Groselj, U; Kelvisar, M; Kobe, H; Lampret, BR; Tansek, MZ	1
Azen, C; Fu, X; Moseley, K; Yano, S	1
Blau, N; De Girolamo, G; Jung-Klawitter, S; Leccese, A; Margaglione, M; Santacroce, R; Shen, N; Trunzo, R	1
Ahring, K; Bélanger-Quintana, A; Blau, N; Bosch, AM; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, SC; Kearney, S; Leuzzi, V; MacDonald, A; Maillot, F; Muntau, AC; Trefz, FK; van Rijn, M; van Spronsen, FJ; van Wegberg, AM; Walter, JH	1
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
Feldmann, R; Rutsch, F; Weglage, J; Wolfgart, E	1
Bal, MO; Burlina, A; Cleary, M; De Laet, C; Eyskens, F; Freisinger, P; Gramer, G; Leuzzi, V; Lotz-Havla, AS; Moreau-Stucker, F; Mould, DR; Munafo, A; Muntau, AC; Pazdírková, R; Rogoff, D; Rutsch, F; Sivri, HS; Vijay, S	1
Danecka, MK; Gersting, SW; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Sommerhoff, CP; Staudigl, M	1
Hussar, DA	1
Feillet, F	1
Bebchuk, J; Burton, BK; Christ-Schmidt, H; Crombez, E; Dorenbaum, A; Giovannini, M; Lee, P; Morris, AA; Seashore, M; Treacy, EP; Waber, L; Wasserstein, M; Wendel, U; Wolff, J	1
Dobrowolski, SF; Ellingson, CC; Koch, R; Levy, H; Martinez, A; Naylor, EW; Pey, AL	1
Drosten, C; Hoffmann, GF; Hoyer, J; Hyland, K; Maier, T; Opladen, T; Rhead, W; Rupprecht, CE; Schmiedel, S; Willoughby, RE	1
Frauendienst-Egger, G; Götz, H; Scheible, D; Trefz, FK	1
Blau, N; Garbade, SF; Gramer, G; Lindner, M	1
Clarke, L; Dorenbaum, A; Feillet, F; Foehr, E; Giovannini, M; Green, B; Harmatz, P; Lipson, M; Meli, C; Morris, AA; Mould, DR	1
Blau, N; Burlina, A	1
Blau, N; Thöny, B	1
Shintaku, H	2
Bélanger-Quintana, A; Blau, N; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, FK; van Spronsen, FJ	2
Bebchuk, J; Burton, BK; Casanova, MM; Christ-Schmidt, H; Crombez, EA; Dorenbaum, A; Grange, DK; Gruskin, DJ; Harmatz, P; Hennermann, JB; Kakkis, ED; Lipson, MH; Longo, N; Milanowski, A; Randolph, LM; Trefz, FK; Vockley, J; Whitley, CB; Wolff, JA	1
Cyryłowski, L; Giżewska, M; Hnatyszyn, G; Kubalska, J; Modrzejewska, M; Nestorowicz, B; Sagan, L; Walczak, M; Zekanowski, C	1
Keating, GM; Sanford, M	2
Borski, K; Dobrowolski, SF; Ellingson, CC; Koch, R; Levy, HL; Naylor, EW	1
Bik-Multanowski, M; Pietrzyk, JJ	2
Burgard, P; Garbade, SF; Gramer, G; Lindner, M	2
Cañada-Cañada, F; Espinosa-Mansilla, A; Mancha de Llanos, A; Muñoz de la Peña, A	1
Hegge, K; Hegge, KA; Horning, KK; Peitz, GJ	1
Xu, XH; Zhang, L; Zhang, SJ	1
Blau, N; Hsiao, KJ; Kuptanon, C; Liammongkolkul, S; Liu, TT; Ratanarak, P; Vatanavicharn, N; Wasant, P	1
Aoki, K; Kitagawa, T; Ohwada, M; Shintaku, H; Yamano, T	1
Alluto, A; Ferraris, S; Mussa, A; Ponzone, A; Porta, F; Spada, M	1
Artuch, R; Campistol, J; Gómez-López, L; Gutiérrez, A; Lambruschini, N; Moreno, J; Tondo, M; Vilaseca, MA	1
Güttler, F; Nielsen, JB; Nielsen, KE	1
Harada, N; Ohira, T; Watanabe, Y; Yoshino, M	1
Boix, C; Campistol, J; Fusté, ME; Gassió, R; Lambruschini, N; Vilaseca, MA	1
Frauendienst-Egger, G; Scheible, D; Trefz, FK	1
Bergner, A; Hamosh, A; Johnson, MR; Koerner, CB; Vernon, HJ	1
Dhondt, JL	3
Cohen, AF; Dubois, EA	1
Ha, SH; Han, J; Kim, HK	1
Danecka, MK; Gersting, SW; Kemter, KF; Messing, DD; Muntau, AC; Sommerhoff, CP; Staudigl, M; Truger, MS	1
Danecka, MK; Eichinger, A; Fingerhut, R; Gersting, SW; Glossmann, H; Lagler, FB; Muntau, AC; Staudigl, M; Steinbacher, A; Zsifkovits, C	1
Belanger-Quintana, A; Trefz, FK	1
Adams, DJ; Bausell, H; Burton, BK; Grange, DK; Jurecki, E; Malone, JI; Marra, KD; Sprietsma, L; Swan, KT	1
Brauchla, MC; Douglas, TD; Quirk, ME; Singh, RH	1
Cederbaum, S	1
Cao, J; Chen, YS; Cheng, A; Chien, B; Foehr, ED; Patrick, C; Zhao, Y; Zhu, Y	1
Blau, N; Harding, CO	1
Baykal, T; Blau, N; Demirkol, M; Dobrowolski, SF; Ellingson, C; Gökçay, G; Heintz, C; Miller, T; Ozer, I; Thöny, B	1
Elsas, LJ; Greto, J; Wierenga, A	1
Garelli, D; Mussa, A; Porta, F; Spada, M	1
Aso, K; Kudo, S; Nishi, Y; Okano, Y; Sakaguchi, T	1
Garelli, D; Mussa, A; Ponzone, A; Porta, F; Spada, M	1
Abu Seda, B; Blau, N; Hoffmann, GF; Opladen, T; Rassi, A; Thöny, B	1
Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen-Ozel, H; Lammardo, AM; MacDonald, A; Motzfeldt, K; Robert, M; Rocha, JC; van Rijn, M	1
Blau, N; Danecka, MK; Gersting, SW; Kemter, KF; Messing, DD; Muntau, AC; Pinkas, D; Staudigl, M; Woidy, M	1
Burton, BK; Chakrapani, A; Dorenbaum, A; Fernhoff, PM; Grange, DK; Hennermann, JB; Imperiale, M; Kim, SS; Lipson, M; Nowacka, M; Trefz, F	1
Dagbjartsson, A; Eiriksdóttir, L; Franzson, L; Oddason, KE	1
Campistol, J; González, MJ; Gutiérrez, AP; Vilaseca, MA	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
Amato, F; Carluccio, C; Cavaliere, P; Cerreto, M; Daniele, A; Salvatore, F; Zagari, A	1
Blau, N; Thöny, B; Werner, ER	1
Afonso, Â; Barroso, M; Gaspar, A; Janeiro, P; Mendes, D; Oliveira, A; Ramos, R; Rivera, I; Tavares de Almeida, I	1
Niu, DM	1
Blau, N; Hennermann, JB; Langenbeck, U; Lichter-Konecki, U	1
Bélanger-Quintana, A; Burlina, A; Harding, CO; Muntau, AC	1
Quirk, ME; Singh, RH	1
Anjema, K; Boelen, CC; Bosch, AM; Carbasius Weber, EC; de Vries, MC; Heiner-Fokkema, MR; Hofstede, FC; Hollak, CE; Janssen, MC; Janssen-Regelink, RG; Jonkers, CF; Rubio-Gozalbo, ME; Ter Horst, NM; van der Herberg-van de Wetering, NA; van der Ploeg, EM; van Rijn, M; van Spronsen, FJ; Venema, G; Zweers-van Essen, H	1
Blau, N; Giugliani, R; Nalin, T; Perry, ID; Saraiva-Pereira, ML; Schwartz, IV; Sitta, A; Vargas, CR	1
Diethelm-Okita, B; Erickson, D; Lorentz, CP; Markowitz, D; Rudser, KD; Utz, JR; Whitley, CB	1
Gersting, SW; Glossmann, H; Kemter, K; Kirchmair, J; Lagler, FB; Muntau, AC; Perna, AM; Reiss, D; Röschinger, W; Santos-Sierra, S; Wolber, G	1
Blau, N; Heintz, C; Martinez, A; Thöny, B; Troxler, H	1
Gordon, P; Jurecki, E; Suter, R; Thomas, JA	1
Aizawa, S; Harada, T; Hasegawa, H; Ohashi, A; Saeki, Y; Suetake, Y	1
Concolino, D; Mussa, A; Ponzone, A; Porta, F; Spada, M	1
Chappa, G; Christodoulou, J; Dionysiou, M; Drousiotou, A; Georgiou, T; Ho, G; Nicolaides, P; Nicolaou, A; Stylianidou, G; Vogazianos, M	1
Barth, M; de Parscau, L; Eyer, D; Feillet, F; Gilbert-Dussardier, B; Kuster, A; Labarthe, F; Leuret, O; Odent, S	1
Beblo, S; Ceglarek, U; Kiess, W; Mütze, U; Rohde, C; Thiele, A; Thiery, J; Weigel, J; Ziesch, B	1
Battelino, T; Groselj, U; Hovnik, T; Kovac, J; Podkrajsek, KT; Tansek, MZ	1
Brunner-Krainz, M; Karall, D; Konstantopoulou, V; Lagler, F; Möslinger, D; Paschke, E; Paul, K; Plecko, B; Scholl-Bürgi, S; Sperl, W; Sterl, E; Windisch, E; Zschocke, J	1
Bausell, H; Brown, M; Cederbaum, S; Chapman, M; Cunningham, A; DeFouw, K; Ernst, S; Gillis, J; Jurecki, E; McClure, J; McCune, H; O'Steen, D; Pender, A; Prasad, S; Shediac, R; Skrabal, J; Wessel, A	1
Baumgartner, MR; Blau, N; Fingerhut, R; Jacobs, P; Rohrbach, M; Thöny, B; Torresani, T; Zimmermann, M	1
Martinez, A; Sarkissian, CN; Scherer, T; Thöny, B; Ying, M	1
Blau, N; Hoffmann, GF; Opladen, T	1
Ohwada, M; Shintaku, H	1
Coffee, B; Dobrowolski, SF; Nelson, BE; Quirk, ME; Singh, RH	1
Battelino, T; Groselj, U; Kobe, H; Lampret, BR; Murko, S; Tansek, MZ	1
Aldámiz-Echevarría, L; Andrade, F; Bueno, MA; Couce, ML; Delgado, C; González-Lamuño, D; Lage, S; Pérez, M	1
Abadi-Korek, I; Shemer, J	1
Aldridge, K; Bodner, KE; Christ, SE; Moffitt, AJ; Peck, D; White, DA	1
Gebauer, C; Hennermann, JB; Mönch, E; Roloff, S; Vetter, B; von Arnim-Baas, A	1
Battelino, T; Groselj, U; Podkrajsek, KT; Tansek, MZ	1
Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen Ozel, H; Lammardo, AM; MacDonald, A; Motzfeldt, K; Robert, M; Rocha, JC; van Rijn, M	1
Aubi, O; Martinez, A; Underhaug, J	1
Aldámiz-Echevarría, L; Bóveda, MD; Couce, ML; Fernández-Lorenzo, JR; Fraga, JM; Leis, MR; Mera, A; Mirás, A	1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T	1
Kohlschütter, A; Lindner, M; Lukacs, Z; Steinfeld, R; Ullrich, K; Zschocke, J	1
Denecke, J; Feldmann, R; Gödde, D; Grenzebach, M; Koch, HG; Marquardt, T; von Teeffelen-Heithoff, A; Weglage, J	1
Bernegger, C; Blau, N	1
Seashore, MR	1
Demmelmair, H; Habich, M; Hoffmann, B; Muntau, AC; Roscher, AA; Röschinger, W; Sommerhoff, CP	1
Rubio-Gozalbo, ME; Spaapen, LJ	1
Burgard, P; Lindner, M; Mayatepek, E; Schulze, A; Steinfeld, R; Zschocke, J	1
Bernegger, C; Blau, N; Trefz, FK	1
Peduto, A; Ponzone, A; Spada, M	1
Hanley, WB	1
Aulehla-Scholz, C; Das, AM; Illsinger, S; Lücke, T; Sander, J	1
Kohlschütter, A; Lukacs, Z; Steinfeld, R; Ullrich, K	2
He, C; Jin, YY; Li, XW; Qiao, F; Shen, M; Xu, L; Yu, WM; Zhang, ZX; Zhou, ZS	1
Guttler, F; Koch, R; Matalon, R; Moats, R; Moseley, KD; Yano, S	1
Coskun, T; Ersoy, F; Karagoz, T; Ozalp, I; Ozkaya, E	1
Harding, CO; Jones, K; Neff, M; Wild, K; Wolff, JA	1
Erlandsen, H; Gamez, A; Patch, MG; Stevens, RC; Straub, M	1
Blau, N; Trefz, FK	1
Aoki, K; Kitagawa, T; Kure, S; Matsubara, Y; Ohura, T; Ohwada, M; Okano, Y; Sakura, N; Shintaku, H; Sugiyama, N; Suzuki, K; Yoshida, I; Yoshino, M	1
Blau, N; Scriver, CR	1
Elzaouk, L; Harding, CO; Jones, K; Milstien, S; Neff, M; Thöny, B; Wild, K	1
Birk Moller, L; Blau, N; Cerone, R; Fantasia, AR; Perfumo, M; Schiaffino, MC	1
Blau, N; Erlandsen, H	1
Alp, NJ; Channon, KM; Flint, J; Fullerton, J; Khoo, JP; Nicoli, T	1
Erlandsen, H; Gamez, A; Kim, W; Matalon, R; Michols-Matalon, K; Stevens, RC; Surendran, S; Tyring, SK	1
Hase, Y; Inui, K; Kajiwara, M; Kawajiri, M; Nishi, Y; Okano, Y; Sakai, N; Takatori, K; Tanaka, Y; Yamano, T	1
Aguado, C; Desviat, LR; Erlandsen, H; Gámez, A; Martínez, A; Martínez, MA; Pérez, B; Pey, AL; Stevens, RC; Thórólfsson, M; Ugarte, M	1
Chien, YH; Hwu, WL; Liu, HM; Peng, SS; Tseng, WY	1
Ding, Z; Martínez, A; Thöny, B	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
Artuch, R; Campistol, J; Gómez, L; Gutiérrez, A; Lambruschini, N; Mas, A; Mila, M; Pérez-Dueñas, B; Pineda, J; Vilaseca, MA	1
Blau, N; Kern, I; Kierat, L; Opladen, T; Thöny, B; Zurflüh, M	1
Boonpuan, K; Charoensiriwatana, W; Pangkanon, S; Ratrisawadi, V; Srisomsap, C; Svasti, J; Techasena, W	1
Capistrano-Estrada, SB; Nyhan, WL	1
Gu, XF; Han, LS; Qiu, WJ; Ye, J; Zhang, ZX	2
Martinez, A; Pey, AL	2
Fossbakk, A; Haavik, J	1
Blau, N; Connolly, MB; Demos, MK; Hyland, K; Lillquist, Y; Makhseed, N; Vallance, HD; Waters, PJ	1
Artuch, R; Campistol, J; Gassió, R; Gómez, L; Gutiérrez, A; Lambruschini, N; Mas, A; Pérez-Dueñas, B; Vilaseca, MA	1
Blau, N; Bührer, C; Hennermann, JB; Mönch, E; Vetter, B	1
Desviat, LR; Gómez-Puertas, P; Martínez, A; Pérez, B; Stevens, RC; Ugarte, M	1
Alexander, I; Christodoulou, J; Earl, J; Ellaway, C; Mitchell, JJ; O'Grady, H; Wilcken, B; Wiley, V	1
Ichinose, H; Ikemoto, K; Nomura, T; Sato, T; Senda, T; Shimomura, A; Shiraishi, H; Sumi-Ichinose, C; Urano, F	1
Grady, J; Koch, R; Matalon, R; Michals-Matalon, K; Stevens, RC; Tyring, S	1
Bélanger-Quintana, A; Castro, M; Desviat, LR; García, MJ; Martínez-Pardo, M; Mejía, B; Pérez, B; Ugarte, M	1
Hasegawa, H; Nakanishi, N; Sawabe, K; Suetake, Y; Wakasugi, KO	1
Blau, N; Demos, M; Khashu, M; Lillquist, Y; Mattman, A; Rupar, A; Scott, P; Senger, C; Setchell, K; Vallance, HD; Waters, PJ	1
Asada, M; Fujioka, H; Sawada, Y; Shintaku, H; Yamano, T	1
Fiege, B; Fiori, L; Giovannini, M; Riva, E	1
Blau, N; Frauendienst-Egger, G; Korall, H; Scheible, D; Trefz, FK	1
Baykal, T; Blau, N; Fiege, B; Fiori, L; Gärtner, KH; Giovannini, M; Gokdemir, Y; Kierat, L; Thöny, B; Zurflüh, MR	1
Ballhausen, D; Baumgartner, M; Blau, N; Bonafé, L; Fiege, B; Fiori, L; Giovannini, M; Meili, D; Thöny, B	1
Guttler, F; Koch, R; Moseley, K	1
Cheng, LY; Chiu, PC; Hsiao, KJ; Lee, NC; Liu, TT; Niu, DM	1
Artuch, R; Campistol, J; Gómez, L; Lambruschini, N; Ormazabal, A; Pérez-Dueñas, B; Vilaseca, MA	1
Aguado, C; Desviat, LR; Pérez, B; Ugarte, M	1
Baldellou Vázquez, A; Campos Calleja, C; Ruiz Desviat, L; Ruiz-Echarri Zalaya, MP; Salazar García-Blanco, MI; Ugarte Pérez, M	1
Lukacs, Z; Santer, R	1
Antonozzi, I; Artiola, C; Carducci, C; Chiarotti, F; Giovanniello, T; Leuzzi, V	1
Chang, M; Fu, GX; He, C; Hsiao, KJ; Li, XW; Liu, TT; Shen, M; Shen, S; Wang, L; Yu, WM; Zhao, SP	1
Boneh, A; Francis, DE; Humphrey, M; Peters, HL; Upton, HJ	1
Jin, YW; Qu, YJ; Song, F; Wang, H	2
Farrugia, R; Felice, AE; Montalto, SA; Neville, BG; Parascandolo, R; Scerri, CA	1
Fiori, L; Giovannini, M; Riva, E; Salvatici, E; Verduci, E	1
Chen, L; Thung, SN; Woo, SL	1
Aguado, C; Bélanger-Quintana, A; Desviat, LR; García, MJ; Martínez-Pardo, M; Pérez, B; Ugarte, M	1
Bhatia, G; Guttler, F; Matalon, R; Michals-Matalon, K; Tyring, SK	1
Blau, N; Fiege, B	1
Gu, XF; Han, LS; Qiu, W; Shen, M; Yang, L; Ye, J; Yu, WM; Zhang, ZX; Zhou, ZS	1
Bóveda, MD; Castiñeiras, DE; Cocho, JA; Couce, ML; Fraga, JM; Pérez, B; Ugarte, M	1
Bhatia, G; Grady, J; Guttler, F; Koch, R; Matalon, R; Michals-Matalon, K; Stevens, RC; Surendran, S; Tanskley, S; Tyring, SK; Wang, L	1
Bebchuk, JD; Chakrapani, A; Christ-Schmidt, H; Cleary, M; Dorenbaum, A; Feigenbaum, AS; Feillet, F; Lee, P; Levy, HL; Milanowski, A; Trefz, FK; Whitley, CB	1
Abadie, V; Burton, BK; Cederbaum, S; Crombez, EA; Dobbelaere, D; Dorenbaum, A; Feillet, F; Grange, DK; Harding, CO; Milanowski, A; Smith, A; Vockley, G	1
Asada, M; Kajiwara, M; Kudo, S; Okano, Y; Sakaguchi, T; Takatori, K; Yamano, T	1
Blau, N; Burlina, A; Chery, C; Feillet, F; Lindner, M; Stevens, RC; Thöny, B; Zschocke, J; Zurflüh, MR	1
Burnett, JR	1
Burton, B; Cederbaum, S; Levy, H; Scriver, C	1
Ballhausen, D; Baumgartner, MR; Blau, N; Fiori, L; Giovannini, M; Hoffmann, GF; Ibel, H; Jäggi, L; Ponzone, A; Porta, F; Santer, R; Schuler, A; Wendel, U; Zurflüh, MR	1
Doggrell, SA	1
Thompson, CA	1
Langenbeck, U	1
Michals-Matalon, K	1
Battaglia-Hsu, SF; Chery, C; Favre, E; Feillet, F; Guéant, JL; Kimmoun, A; Lorentz, E; Namour, F	1
Morrow, T	1
Bik-Multanowski, M; Didycz, B; Pietrzyk, JJ; Szymczakiewicz-Multanowska, A	1
Leeming, RJ	2
Bickel, H	2
Kapatos, G; Kaufman, S; Rizzo, WB; Schulman, JD; Tamarkin, L; Van Loon, GR	1
Boespflug, O; Demeocq, F; Guyon, A; Malpuech, G; Piton, A; Vanlieferinghen, P	1
Curtius, HC; Niederwieser, A	2
Harpey, JP	1
Curtius, HC; Leeming, RJ; Niederwieser, A; Rey, F; Rey, J; Saudubray, JM	1
Kaufman, S	8
Takada, G	1
Lipson, A; O'Halloran, M; Potter, M; Wilken, B; Yu, J	1
Kitagawa, T; Nakabayashi, H; Owada, M	1
Beck, B	1
Curtius, HC; Levine, R; Müldner, H; Niederwieser, A	1
Barford, PA; Blair, JA; Leeming, RJ; Smith, I	1
Matalon, R	1
Curtius, HC; Endres, W; Niederwieser, A; Ohrt, B; Schaub, J; Wang, M	1
Dhondt, JL; Farriaux, JP	4
Clow, CL; Scriver, CR	2
Narisawa, K; Tada, K	1
Curtius, HC; Leupold, D; Niederwieser, A; Wang, M	1
Kapatos, G; Kaufman, S; McInnes, RR; Rizzo, WB; Schulman, JD	1
Scriver, CR	1
Barr, DG; Westwood, A	1
Cotton, RG; Danks, DM	1
Blau, N; Cabral, A; de Almeida, IT; Eusébio, F; Leandro, PP; Matasovic, A; Portela, R; Tasso, T	1
Ashida, A; Hatakeyama, K; Owada, M	1
Eisensmith, RC; Woo, SL	1
Blau, N; Burlina, AB; Heizmann, CW; Ichinose, H; Nagatsu, T; Zacchello, F	1
Blau, N; Guardamagna, O; Heizmann, CW; Kierat, L; Leimbacher, W; Matasovic, A; Ponzone, A	1
Blau, N; Burlina, AB; Ferraris, S; Piovan, S; Ponzone, A; Spada, M	1
Blau, N; Guardamagna, O; Heizmann, CW; Kierat, L; Ponzone, A; Ponzone, R; Sartore, M; Spada, M	1
Blau, N; Dhondt, JL	1
Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H	2
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW	1
Blau, N; Ferraris, S; Guardamagna, O; Kierat, L; Ponzone, A; Ponzone, R; Spada, M	1
Cotton, RG; Dianzani, I; Ferrero, GB; Guardamagna, O; Ponzone, A; Ponzone, R; Spada, M	1
Bosco, P; Calì, F; Ceratto, N; Chiavetta, V; Hashem, N; Romano, V	1
Hsiao, KJ; Liu, TT	1
Pogson, D	1
Goldstein, DS	1
Chang, CC; Hsiao, KJ; Lee, YM; Lin, CM; Tan, Y	1
Daubner, SC; Fitzpatrick, PF; Hillas, PJ	1
Chen, RG; Chiang, SH; Hsiao, KJ; Liu, TT; Liu, XQ; Lu, SF; Wu, KF; Wu, SJ; Yu, WM	1
Bieglmayer, C; Birnbacher, R; Blau, N; Frisch, H; Scheibenreiter, S; Waldhauser, F	1
Asada, M; Isshiki, G; Sawada, Y; Shintaku, H	1
Arnold, LA; Blau, N; Hyland, K; Renneberg, A; Thöny, B	1
Blau, N; Hoffmann, GF; Hyland, K; Penzien, JM; Renneberg, A; Thöny, B	1
Fujii, K; Hou, DC; Iwamoto, H; Kure, S; Matsubara, Y; Narisawa, K; Ohura, T; Sakamoto, O; Sugiyama, N; Suzuki, S	1
Baumer, A; Blau, N; Jaeken, J; Matasovic, A; Riegel, M; Scherer-Oppliger, T; Schinzel, A; Thöny, B	1
Ayling, JE; Bailey, SW; Blau, N; Boerth, SR; Braegger, CP; Giugliani, R; Thöny, B	1
Asada, M; Sawada, Y; Shintaku, H	1
Matsumura, R	1
Harding, CO	1
Blaese, RM; Christensen, R; Jensen, TG; Kolvraa, S	1
Chen, R; Gu, X; Huang, X; Liu, X; Ma, X; Ye, J; Zhang, Y	2
Aulela-Scholz, C; Blau, N; Trefz, FK	1
Erlandsen, H; Stevens, RC	1
Chang, YH; Chiang, SH; Hsiao, KJ; Liu, TT; Yang, YL; Yu, WM	1
Blau, N; Bonafé, L; Czarnecki, B; Penzien, JM; Thöny, B	1
Blau, N; Bonafé, L; Burlina, AB; Burlina, AP; Güttler, F; Romstad, A	1
Chiang, SH; Hsiao, KJ; Liu, TT; Wu, SJ	1
Huang, X; Liu, X; Ye, J	1
Hoffmann, GF; Mayatepek, E; Schulze, A	1
Blau, N; Thöny, B; Zorzi, G	1
Blau, N; Guttler, F; Koch, R	1
Chiang, SC; Chien, YH; Chiu, YN; Chou, SP; Chu, SY; Huang, A; Hwu, WL; Lin, JM; Wang, TR	1
Blau, N; Lässker, U; Santer, R; Zschocke, J	1
Abu-Omar, MM; Erlandsen, H; Han, A; Kim, JY; Patch, MG; Stevens, RC; Volner, A	1
Bartholomé, K; Bieri, JH; Curtius, HC; Däumling, S; Niederwieser, A; Schaub, J; Schircks, B; Viscontini, M	1
Blau, N; Cotton, RG; Heizmann, CW; Hoffmann, GF; Korenke, GC; Smooker, PM; Sperl, W	1
Blau, N; Liu, SR; Ning, C; Shu, D; Wang, MT; Wang, S; Wei, H	1
Blau, N; Endres, W; Giudici, T; Heizmann, CW; Kierat, L; Wang, M	1
Endres, W	1
Aulehla-Scholz, C; Devoto, M; Dworniczak, B; Horst, J; Kalaydjieva, L; Romeo, G; Stuhrmann, M	1
Cotton, RG; Dianzani, I; Ferraris, S; Ferrero, GB; Guardamagna, O; Ponzone, A	1
Allanson, J; Bradley, L; McInnes, R; Nardella, M; Naylor, E; Tarby, T	1
Davis, MD; Kaufman, S	1
Carson, DJ; Dempsey, SI; Greeves, LG; Hyland, K; Leeming, RJ	1
Hyland, K; Surtees, R	1
Batzler, U; Lutz, P; Schmidt, H	1
Blau, N; Curtius, AC; Kierat, L; Kohne, E; Leupold, D	1
Duch, DS; Nichol, CA; Smith, GK	1
Bracco, G; Cotton, RG; Ferraris, S; Guardamagna, O; Ponzone, A	1
Blau, N; Curtius, HC; Endres, W; Ibel, H; Kierat, L	1
Curtius, HC; Leimbacher, W; Leupold, D; Niederwieser, A; Ponzone, A; Rey, F	1
Bracco, G; Cotton, RG; Guardamagna, O; Jennings, I; Ponzone, A	1
Matsuo, N	1
Levine, RA	1
Curtius, HC; Endres, W; Hyànek, J; Leimbacher, W; Niederwieser, A; Shintaku, H; Zeman, J	1
Bracco, G; Ferraris, S; Guardamagna, O; Ponzone, A	1
Howells, DW; Hyland, K; Smith, I	2
Blonder, J; Cohen, BE; Normand, M; Peled, I; Quint, J; Szeinberg, A	1
Collins, JE; Leonard, JV	1
Curtius, HC; Niederwieser, A; Ponzone, A	1
Hyland, K; Kendall, B; Smith, I	1
Howells, D; Hyland, K; Leonard, J; Smith, I	1
Beirne, E; Carty, MP; Donlon, J	1

Reviews

76 review(s) available for sapropterin and BH4 Deficiency

Article	Year
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes? Nutrients, 2022, Sep-19, Volume: 14, Issue:18 Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Quality of Life	2022
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH Orphanet journal of rare diseases, 2020, 05-26, Volume: 15, Issue:1 Topics: Biopterins; Dystonia; Humans; Metabolism, Inborn Errors; Phenylketonurias	2020
Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis. Nutrients, 2021, Mar-23, Volume: 13, Issue:3 Topics: Animals; Biopterins; Databases, Factual; Eating; Humans; Micronutrients; Phenylketonurias; Proteins	2021
New protein structures provide an updated understanding of phenylketonuria. Molecular genetics and metabolism, 2017, Volume: 121, Issue:4 Topics: Allosteric Regulation; Biopterins; Genotype; Humans; Mutation; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Protein Structure, Tertiary	2017
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria. Critical reviews in eukaryotic gene expression, 2018, Volume: 28, Issue:2 Topics: Biopterins; Disease Management; Genetic Therapy; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2018
[Research progress on phenotype and genotype of hyperphenylalaninemia]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2018, 05-25, Volume: 47, Issue:3 Topics: Biopterins; Genotype; Humans; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Research	2018
The phenylketonuria patient: A recent dietetic therapeutic approach. Nutritional neuroscience, 2020, Volume: 23, Issue:8 Topics: Amino Acids; Animals; Biopterins; Caseins; Diet; Diet, Protein-Restricted; Dietetics; Humans; Peptide Fragments; Phenylketonurias	2020
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency. Journal of human genetics, 2019, Volume: 64, Issue:2 Topics: Animals; Biopterins; Humans; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis	2019
Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta-analysis of randomized controlled trials. British journal of clinical pharmacology, 2019, Volume: 85, Issue:5 Topics: Biopterins; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic; Treatment Outcome	2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Molecular genetics and metabolism, 2019, Volume: 127, Issue:1 Topics: Biopterins; Consensus; Diet; Female; Humans; Internationality; Phenylketonurias; Physicians; Practice Guidelines as Topic; Pregnancy	2019
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2 Topics: Biopterins; Cognition; Humans; Infant, Newborn; Neonatal Screening; Oxidative Stress; Phenylalanine; Phenylketonurias; White Matter	2020
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Advances in therapy, 2013, Volume: 30, Issue:3 Topics: Biopterins; Humans; Patient Selection; Phenylalanine; Phenylketonurias	2013
Phenylalanine hydroxylase: function, structure, and regulation. IUBMB life, 2013, Volume: 65, Issue:4 Topics: Animals; Biopterins; Humans; Kinetics; Melanins; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Folding	2013
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Human mutation, 2013, Volume: 34, Issue:7 Topics: Biopterins; Genotype; Humans; Models, Molecular; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome	2013
The regulation of vascular tetrahydrobiopterin bioavailability. Vascular pharmacology, 2013, Volume: 58, Issue:3 Topics: Administration, Oral; Animals; Biological Availability; Biopterins; Cardiovascular Diseases; Humans; Nitric Oxide; Nitric Oxide Synthase; Phenylalanine Hydroxylase; Phenylketonurias	2013
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert opinion on drug metabolism & toxicology, 2013, Volume: 9, Issue:9 Topics: Biopterins; Clinical Trials, Phase II as Topic; Clinical Trials, Phase III as Topic; Drug Evaluation, Preclinical; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic	2013
[Phenylketonuria: new treatments]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2013, Volume: 20, Issue:10 Topics: Amino Acids, Neutral; Biopterins; Caseins; Dietary Supplements; Enzyme Replacement Therapy; Genetic Therapy; Humans; Peptide Fragments; Phenylalanine Ammonia-Lyase; Phenylketonurias	2013
GTP cyclohydrolase regulation: implications for brain development and function. Advances in pharmacology (San Diego, Calif.), 2013, Volume: 68 Topics: Animals; Biopterins; Brain; Disease Models, Animal; Dystonic Disorders; GTP Cyclohydrolase; Humans; Phenylketonurias; Transcription, Genetic	2013
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Molecular genetics and metabolism, 2013, Volume: 110, Issue:4 Topics: Adult; Age Factors; Biopterins; Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; PubMed	2013
Advances in the nutritional and pharmacological management of phenylketonuria. Current opinion in clinical nutrition and metabolic care, 2014, Volume: 17, Issue:1 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
Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert review of molecular diagnostics, 2014, Volume: 14, Issue:6 Topics: Biopterins; Databases, Genetic; Genetic Association Studies; Genetic Testing; Genotype; Humans; Hydrolysis; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome	2014
Sapropterin dihydrochloride for phenylketonuria. The Cochrane database of systematic reviews, 2015, Mar-27, Issue:3 Topics: Adult; Biopterins; Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic	2015
Genetics of Phenylketonuria: Then and Now. Human mutation, 2016, Volume: 37, Issue:6 Topics: Biopterins; History, 20th Century; History, 21st Century; Humans; Mutation; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias	2016
Key European guidelines for the diagnosis and management of patients with phenylketonuria. The lancet. Diabetes & endocrinology, 2017, Volume: 5, Issue:9 Topics: Biopterins; Delphi Technique; Disease Management; Europe; Humans; Phenylalanine; Phenylketonurias	2017
[Biopterin and child neurologic disease]. No to hattatsu = Brain and development, 2009, Volume: 41, Issue:1 Topics: Biopterins; Child; Dystonia; Humans; Nervous System Diseases; Phenylketonurias	2009
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Molecular genetics and metabolism, 2009, Volume: 96, Issue:4 Topics: Biopterins; Clinical Trials as Topic; Diet; Genotype; Humans; Phenylketonurias	2009
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia. Drugs, 2009, Volume: 69, Issue:4 Topics: Biopterins; Dose-Response Relationship, Drug; Half-Life; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic	2009
Spotlight on sapropterin in primary hyperphenylalaninemia. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2009, Volume: 23, Issue:3 Topics: Biopterins; Clinical Trials as Topic; Humans; Phenylketonurias	2009
Sapropterin: a new therapeutic agent for phenylketonuria. The Annals of pharmacotherapy, 2009, Volume: 43, Issue:9 Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic	2009
[Research advance in the treatment of phenylketonuria]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2009, Volume: 11, Issue:9 Topics: Animals; Biopterins; Genetic Therapy; Humans; Phenylalanine Ammonia-Lyase; Phenylketonurias	2009
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Binding Sites; Biopterins; DNA Mutational Analysis; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Male; Mutation; Mutation, Missense; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Thailand	2009
[Phenylketonuria--toward a better carry-over care]. Nihon rinsho. Japanese journal of clinical medicine, 2010, Volume: 68, Issue:1 Topics: Adolescent; Adult; Amino Acids, Neutral; Biopterins; Continuity of Patient Care; Diet Therapy; Female; Humans; Infant, Newborn; Insurance, Life; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors; Young Adult	2010
Sapropterin dihydrochloride for phenylketonuria. The Cochrane database of systematic reviews, 2010, Jun-16, Issue:6 Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias	2010
Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases. Annals of the New York Academy of Sciences, 2010, Volume: 1201 Topics: Animals; Antioxidants; Binding Sites; Biopterins; Humans; Mice; Mice, Transgenic; Mitochondria; Mitochondrial Diseases; Models, Biological; Mutation; Neurodegenerative Diseases; Phenylketonurias; Reactive Oxygen Species	2010
Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria. Drugs of today (Barcelona, Spain : 1998), 2010, Volume: 46, Issue:8 Topics: Administration, Oral; Biopterins; Evidence-Based Medicine; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tablets; Treatment Outcome	2010
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? The British journal of nutrition, 2011, Volume: 106, Issue:2 Topics: Biopterins; Clinical Protocols; Feeding Behavior; Humans; Phenylalanine; Phenylketonurias	2011
Tetrahydrobiopterin: biochemistry and pathophysiology. The Biochemical journal, 2011, Sep-15, Volume: 438, Issue:3 Topics: Animals; Biopterins; Humans; Hypertension; Nitric Oxide Synthase; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2011
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. Brain & development, 2011, Volume: 33, Issue:10 Topics: Biopterins; Female; Humans; Male; Phenylketonurias; Phosphorus-Oxygen Lyases; Taiwan	2011
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Molecular genetics and metabolism, 2011, Volume: 104 Suppl Topics: Biopterins; Genetic Association Studies; Humans; Mutation; Phenylketonurias	2011
Up to date knowledge on different treatment strategies for phenylketonuria. Molecular genetics and metabolism, 2011, Volume: 104 Suppl Topics: Biopterins; Genetic Therapy; Health Knowledge, Attitudes, Practice; Humans; Phenylalanine Ammonia-Lyase; Phenylketonurias	2011
Sapropterin dihydrochloride for phenylketonuria. The Cochrane database of systematic reviews, 2012, Dec-12, Volume: 12 Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic	2012
Phenylalanine hydroxylase misfolding and pharmacological chaperones. Current topics in medicinal chemistry, 2012, Volume: 12, Issue:22 Topics: Animals; Binding Sites; Biopterins; Disease Models, Animal; High-Throughput Screening Assays; Humans; Mice; Molecular Chaperones; Molecular Targeted Therapy; Phenylalanine Hydroxylase; Phenylketonurias; Precision Medicine; Protein Folding; Tyrosine 3-Monooxygenase	2012
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Molecular genetics and metabolism, 2003, Volume: 78, Issue:2 Topics: Biopterins; Gene Expression Regulation, Enzymologic; Humans; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias	2003
BH4-sensitive hyperphenylalaninemia: new case and review of literature. Pediatric neurology, 2003, Volume: 28, Issue:3 Topics: Biopterins; Humans; Infant; Male; Phenylalanine; Phenylketonurias	2003
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Amino Acid Sequence; Animals; Biopterins; Crystallography, X-Ray; Genotype; Humans; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Conformation; Protein Structure, Secondary	2003
New approaches to treat PKU: how far are we? Molecular genetics and metabolism, 2004, Volume: 81, Issue:1 Topics: Animals; Biopterins; Genetic Therapy; Humans; Mice; Phenylalanine Ammonia-Lyase; Phenylketonurias	2004
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Molecular genetics and metabolism, 2004, Volume: 82, Issue:2 Topics: Biopterins; Genotype; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2004
Trends in enzyme therapy for phenylketonuria. Molecular therapy : the journal of the American Society of Gene Therapy, 2004, Volume: 10, Issue:2 Topics: Biopterins; Capsules; Drug Therapy; Humans; Phenylalanine Ammonia-Lyase; Phenylalanine Hydroxylase; Phenylketonurias; Polyethylene Glycols	2004
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Coenzymes; Escherichia coli; Gene Expression; Half-Life; Humans; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Binding; Protein Conformation; Recombinant Fusion Proteins	2005
Phenylketonuria: dietary and therapeutic challenges. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:2 Topics: Amino Acids; Biopterins; Breast Feeding; Fatty Acids, Unsaturated; Growth Disorders; Humans; Nervous System; Nutritional Status; Overweight; Phenylketonurias	2007
Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. IDrugs : the investigational drugs journal, 2007, Volume: 10, Issue:11 Topics: Administration, Oral; Animals; Biopterins; Clinical Trials as Topic; Drug Approval; Humans; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index	2007
Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria. Expert opinion on investigational drugs, 2008, Volume: 17, Issue:2 Topics: Animals; Biopterins; Clinical Trials as Topic; Genotype; Humans; Phenylalanine; Phenylketonurias	2008
The role of tetrahydrobiopterin in neurological disease: a review. Journal of mental deficiency research, 1981, Volume: 25 Pt 4 Topics: Aluminum; Biopterins; Brain; Dementia; Humans; Lead Poisoning; Nervous System Diseases; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines	1981
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. The Journal of pediatrics, 1984, Volume: 104, Issue:4 Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Folic Acid; GTP Cyclohydrolase; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines	1984
Phenylketonuria and its variants. Advances in human genetics, 1983, Volume: 13 Topics: Biopterins; Diagnosis, Differential; Genetic Carrier Screening; Genetic Linkage; Humans; Infant, Newborn; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1983
[Brain function in inborn error of amino acid metabolism]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1984, Volume: 29, Issue:14 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopterins; Blood-Brain Barrier; Brain; Humans; Phenylketonurias	1984
[Tetrahydroblopterin. Metabolism and metabolic role of unconjugated pteridines (author's transl)]. Pathologie-biologie, 1980, Volume: 28, Issue:6 Topics: Animals; Biological Transport; Biopterins; Cattle; Humans; Mice; Mixed Function Oxygenases; Neoplasms; Neurotic Disorders; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Pteridines; Rats	1980
Phenylketonuria: epitome of human biochemical genetics (first of two parts). The New England journal of medicine, 1980, Dec-04, Volume: 303, Issue:23 Topics: Animals; Biopterins; Brain; Chromosome Mapping; Female; Homeostasis; Humans; Intellectual Disability; Liver; Mutation; Myelin Proteins; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy	1980
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annual review of genetics, 1980, Volume: 14 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Dihydropteridine Reductase; Female; Fetal Diseases; Gene Frequency; Genetic Carrier Screening; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats	1980
[Biogenic amines and hyperphenylalaninemia (author's transl)]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1981, Volume: 26, Issue:11 Topics: Biogenic Amines; Biopterins; Dihydropteridine Reductase; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1981
Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy. Advances in genetics, 1995, Volume: 32 Topics: Biopterins; Chromosomes, Human, Pair 12; Genetic Heterogeneity; Genetic Therapy; Genetics, Population; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	1995
New tetrahydrobiopterin-dependent systems. Annual review of nutrition, 1993, Volume: 13 Topics: Animals; Biopterins; Cell Division; Coenzymes; Humans; Immunity, Cellular; Neurotransmitter Agents; Phenylketonurias	1993
[Disorders of tetrahydrobiopterin homeostasis]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Hydro-Lyases; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Prognosis	1998
[Hyperphenylalaninemia]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Biopterins; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Psychomotor Disorders	2000
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Biopterins; Humans; Molecular Sequence Data; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation	2001
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:1 Topics: Biopterins; Child; Female; Genotype; Humans; Male; Phenylalanine Hydroxylase; Phenylketonurias	2002
Novel aspects of metabolism and function of tetrahydrobiopterin. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Biopterins; Dihydropteridine Reductase; Enzyme Activation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1992
Biopterin-responsive hyperphenylalaninemia. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1992
[Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction]. Wiener klinische Wochenschrift, 1992, Volume: 104, Issue:16 Topics: Biopterins; Diagnosis, Differential; Female; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications	1992
Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin. Annual review of biochemistry, 1985, Volume: 54 Topics: Alcohol Oxidoreductases; Animals; Biopterins; Body Fluids; Coenzymes; GTP Cyclohydrolase; Humans; Immune System Diseases; Mental Disorders; Metalloproteins; Molybdenum; Molybdenum Cofactors; Neoplasms; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Tetrahydrofolate Dehydrogenase; Tissue Distribution; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase	1985
Hyperphenylalaninemia syndromes: current status of diagnosis and management. The Keio journal of medicine, 1988, Volume: 37, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome	1988
Tetrahydrobiopterin and biogenic amine metabolism in neuropsychiatry, immunology, and aging. Annals of the New York Academy of Sciences, 1988, Volume: 521 Topics: Aging; Animals; Biogenic Amines; Biopterins; Humans; Immune System; Mental Disorders; Neurosecretory Systems; Phenylketonurias; Pterins; Rats	1988
Atypical cases of phenylketonuria. European journal of pediatrics, 1987, Volume: 146 Suppl 1 Topics: Biopterins; Genetic Variation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1987
Tetrahydrobiopterin biosynthetic pathway and deficiency. Enzyme, 1987, Volume: 38, Issue:1-4 Topics: Alcohol Oxidoreductases; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis	1987
Pteridines and mono-amines: relevance to neurological damage. Postgraduate medical journal, 1986, Volume: 62, Issue:724 Topics: Amines; Biopterins; Folic Acid; Humans; Nervous System; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1986
The dietary management of inborn errors of metabolism. Human nutrition. Applied nutrition, 1985, Volume: 39, Issue:4 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Biopterins; Child; Child, Preschool; Cystathionine beta-Synthase; Dietary Carbohydrates; Dietary Proteins; Energy Metabolism; Fructose Intolerance; Galactosemias; Gluconeogenesis; Glycogen Storage Disease Type I; Homocystinuria; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine Hydroxylase; Phenylketonurias	1985

Trials

34 trial(s) available for sapropterin and BH4 Deficiency

Article	Year
PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study. Metabolism: clinical and experimental, 2022, Volume: 128 Topics: Adolescent; Adult; Biopterins; Cross-Over Studies; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pterins; Young Adult	2022
Does the 48-hour BH4 loading test miss responsive PKU patients? Molecular genetics and metabolism, 2020, Volume: 129, Issue:3 Topics: Adolescent; Adult; Biopterins; Child; Diagnostic Tests, Routine; Female; Genotype; Humans; Male; Middle Aged; Mutation; Phenylalanine; Phenylketonurias; Time Factors	2020
Adjunctive sapropterin dihydrochloride treatment in schizophrenia: A positive proof-of-concept, rater-blind, randomized, multivitamin-controlled study. Schizophrenia research, 2020, Volume: 218 Topics: Biopterins; Double-Blind Method; Humans; Phenylketonurias; Research Design; Schizophrenia	2020
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria. Molecular genetics and metabolism, 2021, Volume: 133, Issue:1 Topics: Adult; Biopterins; Brain; Child; Child, Preschool; Dried Blood Spot Testing; Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine	2021
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose. Journal of pediatric endocrinology & metabolism : JPEM, 2017, Jul-26, Volume: 30, Issue:7 Topics: Adult; Biopterins; Case-Control Studies; Diet; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis	2017
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4). Orphanet journal of rare diseases, 2018, 10-30, Volume: 13, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dietary Supplements; Female; Food, Fortified; Humans; Iron; Male; Middle Aged; Nutritional Status; Phenylketonurias; Vitamin B Complex; Young Adult	2018
Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial. Journal of pediatric endocrinology & metabolism : JPEM, 2019, Aug-27, Volume: 32, Issue:8 Topics: Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Iran; Male; Phenylalanine; Phenylketonurias; Prognosis	2019
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet journal of rare diseases, 2013, Jul-10, Volume: 8 Topics: Adolescent; Adult; Biopterins; Child; Female; Genotype; Humans; Male; Mutation; Phenylketonurias; Young Adult	2013
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genetics in medicine : official journal of the American College of Medical Genetics, 2015, Volume: 17, Issue:5 Topics: Biopterins; Child; Child Development; Child, Preschool; Cognition; Disease Progression; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Time Factors; Treatment Outcome	2015
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. Molecular genetics and metabolism, 2015, Volume: 114, Issue:3 Topics: Adolescent; Adult; Attention Deficit Disorder with Hyperactivity; Biopterins; Child; Dose-Response Relationship, Drug; Double-Blind Method; Executive Function; Female; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult	2015
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia]. Vestnik Rossiiskoi akademii meditsinskikh nauk, 2014, Issue:7-8 Topics: Adolescent; Biopterins; Child; Child, Preschool; Coenzymes; Dihydropteridine Reductase; Drug Monitoring; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index; Treatment Outcome	2014
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. Orphanet journal of rare diseases, 2015, Feb-08, Volume: 10 Topics: Adolescent; Biopterins; Child; Child, Preschool; Drug Administration Schedule; Female; Genotype; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult	2015
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. Orphanet journal of rare diseases, 2017, 03-09, Volume: 12, Issue:1 Topics: Algorithms; Biopterins; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2017
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. American journal of medical genetics. Part A, 2008, Nov-15, Volume: 146A, Issue:22 Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Drug Tolerance; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Safety; Young Adult	2008
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Administration, Oral; Adult; Biopterins; Dose-Response Relationship, Drug; Double-Blind Method; Female; Genotype; Humans; Male; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; Sex Characteristics; Young Adult	2009
Pharmacokinetics of sapropterin in patients with phenylketonuria. Clinical pharmacokinetics, 2008, Volume: 47, Issue:12 Topics: Administration, Oral; Adolescent; Adult; Biological Availability; Biopterins; Body Weight; Child; Creatinine; Dose-Response Relationship, Drug; Europe; Female; Follow-Up Studies; Half-Life; Humans; Male; Metabolic Clearance Rate; Models, Biological; Phenylalanine; Phenylketonurias; United States; Young Adult	2008
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. The Journal of pediatrics, 2009, Volume: 154, Issue:5 Topics: Algorithms; Biopterins; Child; Child, Preschool; Dietary Supplements; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Phenylalanine; Phenylketonurias	2009
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:4 Topics: Administration, Oral; Adult; Biopterins; Cross-Over Studies; Diet; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Models, Statistical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult	2009
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Molecular genetics and metabolism, 2010, Volume: 100, Issue:3 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult	2010
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:6 Topics: Biopterins; Child; Child, Preschool; Dietary Proteins; Drug Tolerance; Eating; Female; Follow-Up Studies; Food, Formulated; Humans; Male; Nutritional Status; Phenylalanine; Phenylketonurias	2010
The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria. Molecular genetics and metabolism, 2011, Volume: 102, Issue:4 Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Female; Food, Formulated; Humans; Male; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies; Reproducibility of Results; Young Adult	2011
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Molecular genetics and metabolism, 2011, Volume: 103, Issue:4 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Middle Aged; Phenylalanine; Phenylketonurias	2011
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Molecular genetics and metabolism, 2011, Volume: 104, Issue:4 Topics: Adolescent; Adult; Biomarkers, Pharmacological; Biopterins; Child; Decision Support Techniques; Female; Food, Formulated; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult	2011
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. Molecular genetics and metabolism, 2012, Volume: 105, Issue:2 Topics: Adult; Alleles; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Double-Blind Method; Enzyme Activation; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2012
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Quality of Life; Surveys and Questionnaires	2012
Recommendations for the use of sapropterin in phenylketonuria. Molecular genetics and metabolism, 2012, Volume: 106, Issue:3 Topics: Biopterins; Child, Preschool; Diet; Humans; Monitoring, Physiologic; North America; Phenylalanine; Phenylketonurias	2012
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. The New England journal of medicine, 2002, Dec-26, Volume: 347, Issue:26 Topics: Adolescent; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Molecular Conformation; Mutation, Missense; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies	2002
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Pediatric research, 2004, Volume: 56, Issue:5 Topics: Adolescent; Adult; Biopterins; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Child, Preschool; Female; Genotype; Humans; Infant; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2004
Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clinical biochemistry, 2004, Volume: 37, Issue:12 Topics: Adolescent; Adult; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Pregnancy	2004
Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria. European journal of pediatrics, 2005, Volume: 164, Issue:6 Topics: Administration, Sublingual; Adult; Biopterins; Child; Humans; Male; Middle Aged; Mouth Mucosa; Phenylketonurias; Stomatitis	2005
Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 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
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet (London, England), 2007, Aug-11, Volume: 370, Issue:9586 Topics: Adolescent; Adult; Biopterins; Child; Double-Blind Method; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Treatment Outcome	2007
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child; Europe; Female; Humans; Male; Middle Aged; North America; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome; Up-Regulation	2007
Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. Helvetica paediatrica acta, 1982, Volume: 37, Issue:5 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Clinical Trials as Topic; Humans; Infant; Levodopa; Male; Phenylketonurias; Pteridines	1982

Other Studies

322 other study(ies) available for sapropterin and BH4 Deficiency

Article	Year
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations. Nutrients, 2021, Sep-06, Volume: 13, Issue:9 Topics: Adolescent; Adult; Biomarkers; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Eating; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Portugal; Practice Guidelines as Topic; Reference Standards; Reference Values; Retrospective Studies; Treatment Outcome; Young Adult	2021
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India. Metabolic brain disease, 2022, Volume: 37, Issue:3 Topics: Biopterins; Child; Child, Preschool; Dystonia; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias	2022
Perturbation of monoamine metabolism and enhanced fear responses in mice defective in the regeneration of tetrahydrobiopterin. Journal of neurochemistry, 2022, Volume: 161, Issue:2 Topics: Animals; Biopterins; Dihydropteridine Reductase; Fear; Humans; Mice; Phenylalanine; Phenylketonurias	2022
Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes. European journal of medical genetics, 2022, Volume: 65, Issue:9 Topics: Biopterins; Genetic Association Studies; Genotype; Humans; Iran; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2022
Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population. Clinica chimica acta; international journal of clinical chemistry, 2022, Oct-01, Volume: 535 Topics: Biopterins; China; Diagnosis, Differential; East Asian People; Exons; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine Hydroxylase; Phenylketonurias	2022
Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant International journal of molecular sciences, 2022, Oct-11, Volume: 23, Issue:20 Topics: Animals; Biopterins; Bombyx; Humans; Melanins; Nitric Oxide Synthase; Phenylketonurias	2022
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy. Molecular genetics and metabolism, 2023, Volume: 140, Issue:3 Topics: Biopterins; Diet; Humans; Infant; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life; Retrospective Studies	2023
Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients. Nutrients, 2019, Aug-27, Volume: 11, Issue:9 Topics: Adolescent; Adult; Aged; Amino Acids; Biomarkers; Biopterins; Child; Child, Preschool; Cyclohexanones; Diet, Protein-Restricted; Dietary Supplements; Enzyme Inhibitors; Female; Humans; Infant; Male; Micronutrients; Middle Aged; Nitrobenzoates; Nutritional Status; Phenylketonurias; Retrospective Studies; Risk Assessment; Risk Factors; Tyrosinemias; Vitamin B 12 Deficiency; Vitamin D Deficiency; Young Adult	2019
The first European guidelines on phenylketonuria: Usefulness and implications for BH Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2 Topics: Adolescent; Biopterins; Child; Europe; Female; Genotype; Humans; Male; Phenylketonurias; Practice Guidelines as Topic; Predictive Value of Tests; Young Adult	2020
[Early diagnosis of phenylketonuria. Physiopathology of the neuronal damage and therapeutic options]. Medicina, 2019, Volume: 79 Suppl 3 Topics: Biopterins; Diet Therapy; Early Diagnosis; Humans; Neurons; Phenylalanine; Phenylketonurias; Tyrosine	2019
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Molecular genetics and metabolism, 2019, Volume: 128, Issue:4 Topics: Alleles; Amino Acid Substitution; Biopterins; Female; Genetic Association Studies; Genotype; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; United States	2019
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. Molecular genetics and metabolism, 2020, Volume: 129, Issue:3 Topics: Adolescent; Adult; Biopterins; Child; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Standard of Care	2020
The Genetic Landscape and Epidemiology of Phenylketonuria. American journal of human genetics, 2020, 08-06, Volume: 107, Issue:2 Topics: Alleles; Biopterins; Europe; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2020
GTP-cyclohydrolase deficiency induced peripheral and deep microcirculation dysfunction with age. Microvascular research, 2021, Volume: 133 Topics: Age Factors; Animals; Aorta, Thoracic; Biopterins; Coronary Vessels; Disease Models, Animal; GTP Cyclohydrolase; Male; Mesenteric Arteries; Mice, Inbred C57BL; Mice, Knockout; Microcirculation; Microvessels; Phenylketonurias; Skin; Vasodilation	2021
Guide for diagnosis and treatment of hyperphenylalaninemia. Pediatrics international : official journal of the Japan Pediatric Society, 2021, Volume: 63, Issue:1 Topics: Biopterins; Female; Humans; Japan; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2021
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Molecular genetics and metabolism, 2021, Volume: 132, Issue:2 Topics: Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Persons with Mental Disabilities; Phenylalanine; Phenylketonurias	2021
Guides for tetrahydrobiopterin-responsive hyperphenylalaninemia. Pediatrics international : official journal of the Japan Pediatric Society, 2021, Volume: 63, Issue:1 Topics: Biopterins; Humans; Phenylalanine Hydroxylase; Phenylketonurias	2021
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder. Proteins, 2021, Volume: 89, Issue:6 Topics: Binding Sites; Biopterins; Coenzymes; Drug Design; Gene Expression; Humans; Hydrogen Bonding; Kinetics; Molecular Dynamics Simulation; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Single Nucleotide; Protein Binding; Protein Conformation, alpha-Helical; Protein Conformation, beta-Strand; Protein Interaction Domains and Motifs; Protein Multimerization; Substrate Specificity; Thermodynamics	2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. Molecular genetics and metabolism, 2021, Volume: 132, Issue:4 Topics: Biopterins; Canada; Europe; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; United States	2021
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency. Journal of pediatric endocrinology & metabolism : JPEM, 2021, Sep-27, Volume: 34, Issue:9 Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Iran; Male; Phenylketonurias; Prognosis	2021
Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study. Pediatrics international : official journal of the Japan Pediatric Society, 2022, Volume: 64, Issue:1 Topics: Biopterins; Child, Preschool; Female; Humans; Japan; Male; Phenylalanine; Phenylketonurias; Pregnancy; Product Surveillance, Postmarketing	2022
A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science (New York, N.Y.), 2021, 08-06, Volume: 373, Issue:6555 Topics: Acetylgalactosamine; Animals; Biopterins; Diet; Disease Models, Animal; Female; Hepatocytes; Humans; Liver; Male; Mice; Mice, Knockout; Nucleic Acid Conformation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; RNA, Long Noncoding	2021
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. Neuropsychology, 2017, Volume: 31, Issue:4 Topics: Adolescent; Adult; Attention; Biopterins; Cognition; Depression; Executive Function; Female; Health Status; Humans; Inhibition, Psychological; Intelligence Tests; Male; Memory, Short-Term; Mental Health; Personality Disorders; Phenylalanine; Phenylketonurias; Self Report; Young Adult	2017
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency. European journal of pediatrics, 2017, Volume: 176, Issue:7 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
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria. Pediatrics, 2017, Volume: 140, Issue:2 Topics: Biopterins; DNA Mutational Analysis; Early Diagnosis; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome	2017
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. Scientific reports, 2017, 07-28, Volume: 7, Issue:1 Topics: Adolescent; Asian People; Biopterins; Child; Child, Preschool; Female; Genotype; Humans; Infant; Male; Mutation; Phenylketonurias; Predictive Value of Tests	2017
NHS decision to deny drug to boy with severe autism was "fundamentally flawed". BMJ (Clinical research ed.), 2017, 08-09, Volume: 358 Topics: Autistic Disorder; Biopterins; Child; Humans; Insurance Coverage; Male; Phenylketonurias; State Medicine	2017
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. BMC medical genetics, 2017, 09-16, Volume: 18, Issue:1 Topics: Alleles; Amino Acid Sequence; Asian People; Biopterins; Exome; Female; Genotype; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases; Sequence Analysis, DNA; Thailand	2017
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. Molecular genetics and metabolism, 2017, Volume: 122, Issue:4 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Humans; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Research Design; Retrospective Studies; Young Adult	2017
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Scandinavian journal of clinical and laboratory investigation, 2018, Volume: 78, Issue:3 Topics: Alleles; Biopterins; Child; Child, Preschool; China; Exons; Female; Genetic Association Studies; Genotype; High-Throughput Nucleotide Sequencing; Humans; Infant; Infant, Newborn; Introns; Male; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index	2018
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism. Human molecular genetics, 2018, 05-15, Volume: 27, Issue:10 Topics: Animals; Biopterins; Disease Models, Animal; Humans; Inactivation, Metabolic; Kinetics; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Proteostasis	2018
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:5 Topics: Adolescent; Adult; Biopterins; Female; Humans; Infant, Newborn; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Retrospective Studies; Young Adult	2018
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model. Biochemical genetics, 2018, Volume: 56, Issue:5 Topics: Biopterins; Cell Line, Tumor; Glutamine; Humans; Lysine; Models, Biological; Models, Molecular; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Structure, Tertiary; Sequence Analysis, DNA	2018
Carbohydrate status in patients with phenylketonuria. Orphanet journal of rare diseases, 2018, 06-27, Volume: 13, Issue:1 Topics: Adolescent; Adult; Amino Acids; Biopterins; Body Mass Index; Carbohydrate Metabolism; Child; Child, Preschool; Cross-Sectional Studies; Dietary Supplements; Female; Humans; Insulin Resistance; Male; Middle Aged; Multicenter Studies as Topic; Phenylalanine; Phenylketonurias; Postprandial Period; Young Adult	2018
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study. Molecular genetics and metabolism, 2018, Volume: 125, Issue:1-2 Topics: Adolescent; Adult; Age Factors; Biopterins; Child; Cognition; Diet; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires; Young Adult	2018
Anthropomorphic measurements and nutritional biomarkers after 5 years of BH Molecular genetics and metabolism, 2018, Volume: 124, Issue:4 Topics: Adolescent; Adult; Biomarkers; Biopterins; Body Mass Index; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine Hydroxylase; Phenylketonurias; Young Adult	2018
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. Journal of clinical laboratory analysis, 2019, Volume: 33, Issue:2 Topics: Biopterins; China; DNA Mutational Analysis; Ethnicity; Female; Humans; Male; Mutation; Pedigree; Phenylketonurias	2019
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age. Orphanet journal of rare diseases, 2018, 09-29, Volume: 13, Issue:1 Topics: Biopterins; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Phenylketonurias	2018
Genotype-phenotype correlations and BH Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:5 Topics: Biopterins; Brazil; Genotype; Humans; Pharmacogenomic Variants; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias	2019
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan. JPMA. The Journal of the Pakistan Medical Association, 2019, Volume: 69, Issue:4 Topics: Anticonvulsants; Biopterins; Child, Preschool; Cost of Illness; Delayed Diagnosis; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Male; Muscle Hypotonia; Muscle Relaxants, Central; Pakistan; Patient Acceptance of Health Care; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Seizures; Tertiary Care Centers; Treatment Refusal; Withholding Treatment	2019
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin. Proceedings of the National Academy of Sciences of the United States of America, 2019, 06-04, Volume: 116, Issue:23 Topics: Biopterins; Humans; Models, Molecular; Molecular Dynamics Simulation; Mutagenesis, Site-Directed; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2019
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. Genes, 2019, 06-15, Volume: 10, Issue:6 Topics: Biopterins; Computer Simulation; Genotype; Hep G2 Cells; Humans; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias; Structure-Activity Relationship	2019
A tetrahydrobiopterin deficit finding in schizophrenia: A confirmation study. Schizophrenia research, 2019, Volume: 210 Topics: Adult; Biopterins; Comorbidity; Female; GTP Cyclohydrolase; Humans; Male; Phenylketonurias; Schizophrenia	2019
Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain. Molecular pain, 2013, Feb-19, Volume: 9 Topics: Animals; Behavior, Animal; Biopterins; Biosynthetic Pathways; Capsaicin; Chromatography, High Pressure Liquid; Chromatography, Reverse-Phase; Disease Models, Animal; Dystonic Disorders; Formaldehyde; Freund's Adjuvant; GTP Cyclohydrolase; Hot Temperature; Inflammation; Inheritance Patterns; Mice; Mice, Inbred C57BL; Motor Activity; Nociception; Pain; Phenylketonurias; Physical Stimulation; Rats; Stress, Mechanical	2013
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. Gene, 2013, May-25, Volume: 521, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Female; Gene Frequency; Genetic Association Studies; Humans; Male; Molecular Epidemiology; Mutation; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias; Spain; Young Adult	2013
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation. Brain & development, 2014, Volume: 36, Issue:3 Topics: Biopterins; DNA Mutational Analysis; GTP Cyclohydrolase; Humans; Infant, Newborn; Japan; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Point Mutation; Time Factors; Treatment Outcome	2014
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics, 2013, Volume: 131, Issue:6 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet; Europe; Follow-Up Studies; Genotype; Humans; Infant; Middle Aged; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Retrospective Studies; Surveys and Questionnaires; Treatment Outcome; Young Adult	2013
The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Molecular genetics and metabolism, 2013, Volume: 109, Issue:3 Topics: Adolescent; Adult; Amino Acids; Biogenic Monoamines; Biopterins; Case-Control Studies; Child; Child, Preschool; Female; Humans; Male; Metabolic Networks and Pathways; Neurotransmitter Agents; Phenylketonurias; Time Factors; Young Adult	2013
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. Gene, 2013, Sep-10, Volume: 526, Issue:2 Topics: Alleles; Base Sequence; Biopterins; Chromosome Breakpoints; Gene Deletion; Gene Frequency; Genetic Association Studies; Genotype; Humans; Mutation; Mutation Rate; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Slovakia; Treatment Outcome; White People	2013
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU. Molecular genetics and metabolism, 2013, Volume: 109, Issue:4 Topics: Biopterins; Body Composition; Body Height; Body Mass Index; Body Weight; Diet; Follow-Up Studies; Humans; Phenylalanine; Phenylketonurias	2013
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Molecular genetics and metabolism, 2013, Volume: 110, Issue:3 Topics: Adolescent; Adult; Biopterins; Brain; Case-Control Studies; Child; Diffusion Tensor Imaging; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult	2013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. European journal of human genetics : EJHG, 2014, Volume: 22, Issue:4 Topics: Biopterins; Cohort Studies; Computational Biology; Exons; Gene Library; Gene Rearrangement; Genome, Human; Genomics; Genotype; High-Throughput Nucleotide Sequencing; Humans; Phenylketonurias; Reproducibility of Results; Sensitivity and Specificity; Sequence Analysis, DNA; Sequence Deletion	2014
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study. Molecular genetics and metabolism, 2013, Volume: 110 Suppl Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylketonurias; Prospective Studies; Quality of Life; Surveys and Questionnaires; Treatment Outcome; Young Adult	2013
Developmental susceptibility of neurons to transient tetrahydrobiopterin insufficiency and antenatal hypoxia-ischemia in fetal rabbits. Free radical biology & medicine, 2014, Volume: 67 Topics: Age Factors; Animals; Animals, Newborn; Basal Ganglia; Biopterins; Cell Survival; Cerebral Cortex; Disease Susceptibility; Female; Fetus; Gestational Age; Hypoxia-Ischemia, Brain; Membrane Potential, Mitochondrial; Mitochondria; Neurons; Organ Specificity; Phenylketonurias; Pregnancy; Primary Cell Culture; Rabbits; Thalamus	2014
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. Acta biochimica Polonica, 2013, Volume: 60, Issue:4 Topics: Biomarkers, Pharmacological; Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland	2013
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. Health and quality of life outcomes, 2013, Dec-30, Volume: 11 Topics: Adolescent; Adult; Biopterins; Child; Female; Georgia; Humans; Longitudinal Studies; Male; Middle Aged; Phenylketonurias; Quality of Life; Self Report; Survival Analysis; Young Adult	2013
Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in medicine : official journal of the American College of Medical Genetics, 2014, Volume: 16, Issue:2 Topics: Biopterins; Child, Preschool; Combined Modality Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; United States	2014
Phenylketonuria Scientific Review Conference: state of the science and future research needs. Molecular genetics and metabolism, 2014, Volume: 112, Issue:2 Topics: Biopterins; Diet Therapy; Disease Management; Evidence-Based Medicine; Female; Humans; Infant, Newborn; National Institutes of Health (U.S.); Phenylketonurias; Practice Guidelines as Topic; Pregnancy; United States	2014
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. PloS one, 2014, Volume: 9, Issue:4 Topics: Asian People; Biopterins; China; Computational Biology; DNA Mutational Analysis; High-Throughput Nucleotide Sequencing; Humans; INDEL Mutation; Multiplex Polymerase Chain Reaction; Mutation; Pedigree; Phenylketonurias	2014
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians Internationa Molecular genetics and metabolism, 2014, Volume: 112, Issue:2 Topics: Biopterins; Diet Therapy; Female; Humans; Phenylketonurias; Practice Guidelines as Topic; Pregnancy	2014
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect. Clinical genetics, 2015, Volume: 88, Issue:1 Topics: Biopterins; Child, Preschool; DNA Mutational Analysis; Founder Effect; Genetic Association Studies; Haplotypes; Humans; Mexico; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome	2015
[Consensus about the diagnosis and treatment of hyperphenylalaninemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2014, Volume: 52, Issue:6 Topics: Biopterins; Child; Consensus; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Societies, Medical	2014
[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2014, Volume: 52, Issue:6 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
Sapropterin is safe and effective in patients less than 4-years-old with BH4-responsive phenylalanine hydrolase deficiency. The Journal of pediatrics, 2014, Volume: 165, Issue:6 Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; Nitric Oxide Synthase; Phenylketonurias; Treatment Outcome	2014
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. Brain & development, 2015, Volume: 37, Issue:6 Topics: 5-Hydroxytryptophan; Biopterins; Child, Preschool; China; Follow-Up Studies; Genotype; Humans; Infant; Infant, Newborn; Intelligence Tests; Levodopa; Mutation; Neopterin; Phenylalanine; Phenylketonurias; Treatment Outcome	2015
Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors. CNS spectrums, 2015, Volume: 20, Issue:2 Topics: Adaptation, Psychological; Adult; Biopterins; Diet; Female; Humans; Male; Mental Disorders; Middle Aged; Neuropsychological Tests; Phenylketonurias; Pilot Projects	2015
A prospective population pharmacokinetic analysis of sapropterin dihydrochloride in infants and young children with phenylketonuria. Clinical pharmacokinetics, 2015, Volume: 54, Issue:2 Topics: Administration, Oral; Adolescent; Adult; Age Factors; Biopterins; Child; Child, Preschool; Clinical Trials, Phase III as Topic; Computer Simulation; Dose-Response Relationship, Drug; Drug Administration Schedule; Female; Humans; Infant; Male; Metabolic Clearance Rate; Middle Aged; Models, Biological; Multicenter Studies as Topic; Phenylketonurias; Prospective Studies; Young Adult	2015
BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations. Molecular genetics and metabolism, 2015, Volume: 114, Issue:1 Topics: Adolescent; Adult; Biopterins; Brain; Child; Dopamine; Female; Humans; Male; Phenylketonurias; Prolactin; Retrospective Studies	2015
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria. Molecular genetics and metabolism, 2015, Volume: 114, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Data Collection; Diet; Dietary Proteins; Female; Humans; Infant; Male; Medication Adherence; Middle Aged; Phenylalanine; Phenylketonurias; Telephone; Young Adult	2015
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria. BMC public health, 2014, Dec-04, Volume: 14 Topics: Adolescent; Adult; Amino Acids; Biopterins; Child; Diet; Dietary Proteins; Female; Humans; Linear Models; Male; Patient Compliance; Phenylketonurias; Quality of Life; Surveys and Questionnaires	2014
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride. Molecular genetics and metabolism, 2015, Volume: 114, Issue:3 Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Patient Outcome Assessment; Phenylalanine; Phenylketonurias; Recommended Dietary Allowances; Time Factors	2015
Alternative therapies to address the unmet medical needs of patients with phenylketonuria. Expert opinion on pharmacotherapy, 2015, Volume: 16, Issue:6 Topics: Anabaena variabilis; Biopterins; Enzyme Replacement Therapy; Humans; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins	2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience. Molecular genetics and metabolism, 2015, Volume: 114, Issue:4 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
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling. Molecular genetics and metabolism, 2015, Volume: 114, Issue:4 Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Models, Statistical; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Retrospective Studies	2015
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype. Molecular genetics and metabolism, 2015, Volume: 115, Issue:1 Topics: Biopterins; Body Height; Body Weight; Child, Preschool; Diet, Protein-Restricted; Female; Genotype; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Mutation; Nutritional Status; Phenylalanine; Phenylketonurias; Retrospective Studies; Spain	2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness. Clinica chimica acta; international journal of clinical chemistry, 2015, Oct-23, Volume: 450 Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Diet; DNA; Genetic Association Studies; Genotype; Humans; Infant; Italy; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Prognosis; Treatment Outcome; Young Adult	2015
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. Vascular pharmacology, 2016, Volume: 77 Topics: Animals; Biopterins; Endothelium, Vascular; Endotoxemia; GTP Cyclohydrolase; Hemodynamics; Hypotension; Lipopolysaccharides; Male; Mice, Inbred C57BL; Mice, Transgenic; Nitric Oxide; Phenylketonurias; Vasodilation	2016
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. Pediatric research, 2015, Volume: 78, Issue:6 Topics: Asian People; Biopterins; China; DNA Mutational Analysis; Gene Frequency; Genetic Predisposition to Disease; Humans; Mutation; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Predictive Value of Tests	2015
The challenges of managing coexistent disorders with phenylketonuria: 30 cases. Molecular genetics and metabolism, 2015, Volume: 116, Issue:4 Topics: Adolescent; Adult; Autoimmune Diseases; Biopterins; Child; Child, Preschool; Chromosome Aberrations; Consanguinity; Diet; Disease Management; Europe; Female; Gastrointestinal Diseases; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies; Turkey	2015
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU). Molecular genetics and metabolism, 2016, Volume: 117, Issue:1 Topics: Administration, Oral; Animals; Biopterins; Brain; Disease Models, Animal; Dopamine; Genotype; Homovanillic Acid; Humans; Indoles; Mice; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase	2016
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. Orphanet journal of rare diseases, 2015, Dec-15, Volume: 10 Topics: Biopterins; Cohort Studies; Female; France; Genetic Association Studies; Genotype; Humans; Male; Phenotype; Phenylketonurias; Treatment Outcome	2015
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. Molecular genetics and metabolism, 2016, Volume: 117, Issue:3 Topics: Alleles; Animals; Biopterins; Chlorocebus aethiops; Chromatography, Liquid; COS Cells; Female; Genetic Association Studies; Genetic Complementation Test; Genetic Vectors; Genotype; Heterozygote; Humans; Mutation; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Fusion Proteins; Spectrometry, Mass, Electrospray Ionization	2016
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value? Orphanet journal of rare diseases, 2016, Jan-29, Volume: 11 Topics: Adolescent; Biopterins; Child; Diagnostic Tests, Routine; Female; Humans; Infant, Newborn; Male; Phenylketonurias	2016
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. Journal of pediatric endocrinology & metabolism : JPEM, 2016, May-01, Volume: 29, Issue:5 Topics: Alanine; Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis	2016
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters. PloS one, 2016, Volume: 11, Issue:8 Topics: Adult; Amino Acids, Neutral; Biomarkers; Biopterins; Dietary Supplements; Dopamine; Drug Synergism; Female; Humans; Male; Melatonin; Middle Aged; Phenylalanine; Phenylketonurias; Serotonin	2016
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU. Gene, 2016, Dec-05, Volume: 594, Issue:1 Topics: Amino Acid Substitution; Animals; Biopterins; Chlorocebus aethiops; COS Cells; Humans; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias	2016
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 2017, 02-02, Volume: 100, Issue:2 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
Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents. Acta paediatrica (Oslo, Norway : 1992), 2017, Volume: 106, Issue:6 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cohort Studies; Female; Humans; Male; Middle Aged; Parents; Phenylketonurias; Quality of Life; Young Adult	2017
Sapropterin (Kuvan) for phenylketonuria. The Medical letter on drugs and therapeutics, 2008, Jun-02, Volume: 50, Issue:1287 Topics: Biopterins; Fees, Pharmaceutical; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2008
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. American journal of human genetics, 2008, Volume: 83, Issue:1 Topics: Administration, Oral; Allosteric Regulation; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Binding Sites; Biopterins; Catalytic Domain; Computer Simulation; Dimerization; Endopeptidase K; Enzyme Stability; Female; Hot Temperature; Humans; Hydrogen Bonding; Hydrolysis; Hydrophobic and Hydrophilic Interactions; Infant, Newborn; Kinetics; Luminescence; Male; Models, Molecular; Motion; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Denaturation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; Protein Subunits; Recombinant Fusion Proteins; Static Electricity	2008
New drugs08, part 2. Nursing, 2008, Volume: 38, Issue:7 Topics: Acromegaly; Adult; Anti-Bacterial Agents; Anti-HIV Agents; Antineoplastic Agents; Biopterins; Carbapenems; Child; Child, Preschool; Cyclohexanes; Doripenem; Drug Therapy; Drug-Related Side Effects and Adverse Reactions; Epothilones; Humans; Infant; Maraviroc; Peptides, Cyclic; Pharmaceutical Preparations; Phenylketonurias; Pyrimidines; Pyrrolidinones; Raltegravir Potassium; Sirolimus; Somatostatin; Triazoles	2008
[BH4 in the management of phenylketonuria]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008, Volume: 15, Issue:5 Topics: Biopterins; Female; Humans; Phenylketonurias; Pregnancy; Pregnancy Complications	2008
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Adult; Biopterins; Circular Dichroism; Escherichia coli; Fluorescence; Humans; Infant, Newborn; Kinetics; Mutagenesis, Site-Directed; Mutant Proteins; Mutation, Missense; Organisms, Genetically Modified; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; Protein Folding; Protein Stability; Young Adult	2009
Tetrahydrobiopterin deficiency in human rabies. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Adolescent; Adult; Biopterins; Diagnosis, Differential; Female; Humans; Male; Middle Aged; Movement Disorders; Phenylketonurias; Rabies; Speech Disorders	2009
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Biopterins; Catalytic Domain; DNA Mutational Analysis; Drug Resistance; Genotype; Humans; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Multimerization; Protein Structure, Tertiary; Retrospective Studies; Treatment Outcome	2009
Effect of BH(4) supplementation on phenylalanine tolerance. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Drug Tolerance; Female; Genotype; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Retrospective Studies; Young Adult	2009
Tetrahydrobiopterin in biomedical research. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Biomedical Research; Biopterins; Coenzymes; Disease; Humans; Nitric Oxide Synthase; Phenylketonurias	2009
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Adolescent; Biopterins; Child; Child, Preschool; Delayed Diagnosis; Female; Humans; Infant, Newborn; Male; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult	2009
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. Journal of human genetics, 2009, Volume: 54, Issue:6 Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Female; Gene Frequency; Genotype; Humans; Infant; Male; Mutation; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland; Young Adult	2009
Proceedings of the International Conference on Tetrahydrobiopterin, Phenylketonuria, and Nitric Oxide Synthase, St. Moritz/Champér, Switzerland, March 23-28, 2008. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1 Topics: Animals; Biopterins; Coenzymes; Humans; Nitric Oxide Synthase; Phenylketonurias	2009
[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics]. Przeglad lekarski, 2009, Volume: 66, Issue:1-2 Topics: Biopterins; Dietary Supplements; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life	2009
Determination of marker pteridins and biopterin reduced forms, tetrahydrobiopterin and dihydrobiopterin, in human urine, using a post-column photoinduced fluorescence liquid chromatographic derivatization method. Analytica chimica acta, 2009, Aug-19, Volume: 648, Issue:1 Topics: Adult; Biomarkers; Biopterins; Child; Chromatography, High Pressure Liquid; Female; Fluorescent Dyes; Humans; Infectious Mononucleosis; Male; Phenylketonurias; Pteridines	2009
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years. Annals of the Academy of Medicine, Singapore, 2008, Volume: 37, Issue:12 Suppl Topics: Biopterins; Humans; Infant, Newborn; Japan; Phenylketonurias; Severity of Illness Index; Time Factors	2008
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. Metabolism: clinical and experimental, 2010, Volume: 59, Issue:5 Topics: Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Statistics, Nonparametric; Tyrosine; Young Adult	2010
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin. Clinical biochemistry, 2010, Volume: 43, Issue:4-5 Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet; Docosahexaenoic Acids; Erythrocytes; Fatty Acids, Unsaturated; Humans; Infant; Phenylketonurias; Phospholipids; Reference Values	2010
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Denmark; Female; Heterozygote; Homozygote; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome	2010
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. Molecular genetics and metabolism, 2010, Volume: 99 Suppl 1 Topics: Adolescent; Biopterins; Child; Cognition; Compassionate Use Trials; Humans; Intelligence; Phenylketonurias	2010
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Adolescent; Biomarkers; Biopterins; Body Weight; Child; Child, Preschool; Combined Modality Therapy; Diet, Protein-Restricted; Drug Dosage Calculations; Follow-Up Studies; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome	2010
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2 Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Pteridines	2010
Sapropterin. British journal of clinical pharmacology, 2010, Volume: 69, Issue:6 Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias	2010
Challenges and pitfalls in the management of phenylketonuria. Pediatrics, 2010, Volume: 126, Issue:2 Topics: Biopterins; Brain; Cognition Disorders; Consensus; Growth Disorders; Humans; Infant, Newborn; Neonatal Screening; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Failure	2010
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor. The Journal of biological chemistry, 2010, Oct-01, Volume: 285, Issue:40 Topics: Allosteric Regulation; Biopterins; Coenzymes; Enzyme Activation; Fluorescence; Humans; Kinetics; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2010
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Biochemical pharmacology, 2010, Nov-15, Volume: 80, Issue:10 Topics: Animals; Biopterins; Breath Tests; Disease Models, Animal; Dose-Response Relationship, Drug; Heterozygote; Mice; Mice, Mutant Strains; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Tyrosine	2010
Sapropterin. Phenylketonuria: for a minority of patients. Prescrire international, 2010, Volume: 19, Issue:107 Topics: Biopterins; Clinical Trials as Topic; Humans; Phenylalanine; Phenylketonurias	2010
Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. The Journal of pediatrics, 2011, Volume: 158, Issue:3 Topics: Biopterins; Child, Preschool; Female; Humans; Infant; Male; Patient Selection; Phenylalanine; Phenylketonurias; Treatment Outcome	2011
Tetrahydrobiopterin and PKU: into the future. The Journal of pediatrics, 2011, Volume: 158, Issue:3 Topics: Biopterins; Child, Preschool; Humans; Infant; Phenylketonurias	2011
Detection of tetrahydrobiopterin by LC-MS/MS in plasma from multiple species. Bioanalysis, 2009, Volume: 1, Issue:5 Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; Humans; Least-Squares Analysis; Mice; Mice, Inbred C57BL; Phenylketonurias; Reproducibility of Results; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry	2009
Advances and challenges in phenylketonuria. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:6 Topics: Animals; Biopterins; Enzyme Replacement Therapy; Genetic Therapy; Humans; Infant, Newborn; Mice; Mice, Transgenic; Neonatal Screening; Phenylalanine Hydroxylase; Phenylketonurias; Therapeutics	2010
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Molecular genetics and metabolism, 2011, Volume: 102, Issue:2 Topics: Alleles; Biopterins; Dose-Response Relationship, Drug; Female; Genetic Association Studies; Genetic Variation; Genotype; Humans; Infant, Newborn; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Turkey	2011
Phenotyping and treatment of phenylketonuria. Lancet (London, England), 2011, Feb-05, Volume: 377, Issue:9764 Topics: Biopterins; Dietary Supplements; Humans; Phenotype; Phenylalanine; Phenylketonurias	2011
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. Journal of human genetics, 2011, Volume: 56, Issue:4 Topics: Base Sequence; Biopterins; Chromatography, High Pressure Liquid; DNA Primers; Genotype; Humans; Japan; Molecular Sequence Data; Mutation, Missense; Nucleic Acid Amplification Techniques; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sequence Analysis, DNA	2011
Tetrahydrobiopterin and phenylketonuria. The Journal of pediatrics, 2011, Volume: 158, Issue:5 Topics: Biopterins; Humans; Nitric Oxide; Phenylalanine; Phenylketonurias	2011
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:3 Topics: Adolescent; Adult; Biopterins; Blood Chemical Analysis; Blood Specimen Collection; Child; Child, Preschool; Drug Stability; Hemoglobins; Humans; Infant; Infant, Newborn; Light; Micropore Filters; Paper; Phenylketonurias; Reference Values; Retrospective Studies; Sensitivity and Specificity; Time Factors; Young Adult	2011
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Human molecular genetics, 2011, Jul-01, Volume: 20, Issue:13 Topics: Biopterins; Coenzymes; Enzyme Activation; Genotype; HEK293 Cells; Humans; Kinetics; Molecular Chaperones; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2011
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. Molecular genetics and metabolism, 2011, Volume: 103, Issue:4 Topics: Adolescent; Biopterins; Child; Female; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Young Adult	2011
[Phenylketonuria (PKU) in Iceland]. Laeknabladid, 2011, Volume: 97, Issue:6 Topics: Biopterins; Diet, Protein-Restricted; Genetic Testing; Guideline Adherence; Humans; Iceland; Incidence; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Retrospective Studies; Time Factors; Treatment Outcome	2011
[Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units]. Medicina clinica, 2012, Mar-03, Volume: 138, Issue:5 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cooperative Behavior; Delayed Diagnosis; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Follow-Up Studies; Hospital Units; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life; Registries; Socioeconomic Factors; Spain; Surveys and Questionnaires; Young Adult	2012
Autophagy induction by tetrahydrobiopterin deficiency. Autophagy, 2011, Volume: 7, Issue:11 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
Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium. Biochimica et biophysica acta, 2011, Volume: 1812, Issue:11 Topics: Biopterins; Circular Dichroism; Enzyme Stability; HeLa Cells; Humans; Immunoblotting; Mutagenesis, Site-Directed; Mutation; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Folding; Protein Multimerization	2011
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. Molecular genetics and metabolism, 2011, Volume: 104 Suppl Topics: Biopterins; Child, Preschool; DNA Mutational Analysis; Genetic Association Studies; Haplotypes; Humans; Molecular Epidemiology; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Portugal	2011
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration. Molecular genetics and metabolism, 2011, Volume: 104 Suppl Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Demography; Diagnostic Techniques and Procedures; Female; Humans; Infant; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors	2011
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. Molecular genetics and metabolism, 2011, Volume: 104 Suppl Topics: Adolescent; Adult; Biopterins; Brazil; Child; Diagnostic Techniques and Procedures; Diet; Feeding Behavior; Female; Genotype; Humans; Male; Phenotype; Phenylalanine; Phenylketonurias; Young Adult	2011
Novel pharmacological chaperones that correct phenylketonuria in mice. Human molecular genetics, 2012, Apr-15, Volume: 21, Issue:8 Topics: Animals; Binding Sites; Biopterins; Catalytic Domain; Cell Line, Tumor; Cell Survival; Drug Discovery; Drug Evaluation, Preclinical; Enzyme Stability; Humans; Hydantoins; Mice; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Small Molecule Libraries; Uracil	2012
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Molecular genetics and metabolism, 2012, Volume: 105, Issue:4 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
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients. Molecular genetics and metabolism, 2012, Volume: 105, Issue:4 Topics: Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Infant, Newborn; Nitric Oxide; Patient Selection; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Prognosis	2012
Rapid clearance of supplemented tetrahydrobiopterin is driven by high-capacity transporters in the kidney. Molecular genetics and metabolism, 2012, Volume: 105, Issue:4 Topics: Animals; Biopterins; Dietary Supplements; Glomerular Filtration Rate; Kidney; Kinetics; Male; Mice; Mice, Inbred C57BL; Phenylketonurias; Rats; Rats, Sprague-Dawley	2012
Dopamine agonists in dihydropteridine reductase deficiency. Molecular genetics and metabolism, 2012, Volume: 105, Issue:4 Topics: Adult; Behavior; Benzothiazoles; Biopterins; Child; Dihydropteridine Reductase; Dopamine; Dopamine Agonists; Humans; Levodopa; Locomotion; Male; Phenylketonurias; Phosphorus-Oxygen Lyases; Pramipexole; Prolactin; Young Adult	2012
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. Clinical biochemistry, 2012, Volume: 45, Issue:7-8 Topics: Alleles; Biopterins; Cyprus; DNA Mutational Analysis; Genetic Heterogeneity; Heterozygote; Humans; Infant, Newborn; Mutation Rate; Mutation, Missense; Neonatal Screening; Phenylalanine Hydroxylase; Phenylketonurias	2012
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Age Factors; Biopterins; Child, Preschool; Female; France; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Treatment Outcome	2012
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. Molecular genetics and metabolism, 2012, Volume: 106, Issue:2 Topics: Alleles; Base Sequence; Biopterins; Gene Frequency; Gene Order; Genetic Association Studies; Genotype; Humans; Hydrogen Bonding; Models, Molecular; Mutation; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Protein Conformation; Registries; Sequence Deletion	2012
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of inherited metabolic disease, 2013, Volume: 36, Issue:1 Topics: Alleles; Austria; Biopterins; DNA; Genotype; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Prevalence	2013
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular genetics and metabolism, 2012, Volume: 106, Issue:3 Topics: Biopterins; Cohort Studies; Diet; Diet Therapy; Female; Genetic Variation; Humans; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polycyclic Aromatic Hydrocarbons	2012
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. Human mutation, 2012, Volume: 33, Issue:10 Topics: Animals; Biopterins; Disease Models, Animal; Female; Hydroxylation; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2012
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Biopterins; Data Collection; Databases, Factual; Dihydropteridine Reductase; Female; Humans; Hydro-Lyases; Infant; Infant, Newborn; Internationality; Male; Phenylketonurias; Phosphorus-Oxygen Lyases	2012
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. Brain & development, 2013, Volume: 35, Issue:5 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Developmental Disabilities; Dopamine Agents; Drug Therapy, Combination; Female; Humans; Japan; Levodopa; Longitudinal Studies; Male; Phenylketonurias; Product Surveillance, Postmarketing; Retrospective Studies; Young Adult	2013
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2 Topics: Biopterins; Child; Child, Preschool; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Treatment Outcome	2012
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population. Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2 Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult	2012
New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness. Metabolism: clinical and experimental, 2012, Volume: 61, Issue:12 Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Reproducibility of Results; Spain; Treatment Outcome; Young Adult	2012
[Risk-sharing scheme in Israel--Kuvan as an allegory]. Harefuah, 2012, Volume: 151, Issue:6 Topics: Biopterins; Coenzymes; Cost Sharing; Drug Costs; Humans; Israel; Medication Therapy Management; Phenylketonurias; Reimbursement Mechanisms; Risk Sharing, Financial	2012
A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria. Molecular genetics and metabolism, 2012, Volume: 107, Issue:3 Topics: Adolescent; Adult; Biopterins; Case-Control Studies; Caudate Nucleus; Child; Cognition; Dopamine; Female; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Nucleus Accumbens; Organ Size; Phenylalanine; Phenylketonurias; Putamen	2012
Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders. Molecular genetics and metabolism, 2012, Volume: 107, Issue:3 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
The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe. Journal of inherited metabolic disease, 2013, Volume: 36, Issue:1 Topics: Alleles; Biopterins; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2013
Use of sapropterin in the management of phenylketonuria: seven case reports. Molecular genetics and metabolism, 2013, Volume: 108, Issue:2 Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Male; Medication Adherence; Phenylalanine; Phenylketonurias; Quality of Life; Treatment Outcome; Young Adult	2013
Risk factors for developing mineral bone disease in phenylketonuric patients. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Adolescent; Adult; Biopterins; Body Mass Index; Bone and Bones; Bone Demineralization, Pathologic; Bone Density; Bone Diseases, Metabolic; Calcium; Child; Cross-Sectional Studies; Dietary Proteins; Eicosapentaenoic Acid; Female; Humans; Male; Minerals; Motor Activity; Mutation; Osteoporosis; Phenylalanine Hydroxylase; Phenylketonurias; Risk Factors; Surveys and Questionnaires	2013
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine	2013
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. European journal of pediatrics, 2002, Volume: 161, Issue:7 Topics: Administration, Oral; Biopterins; Dose-Response Relationship, Drug; Drug Administration Schedule; Female; Follow-Up Studies; Humans; Infant; Male; Mutation; Phenylalanine; Phenylketonurias; Severity of Illness Index; Treatment Outcome	2002
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:4 Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies	2002
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Molecular genetics and metabolism, 2002, Volume: 77, Issue:4 Topics: Biopterins; Child, Preschool; Humans; Infant; Infant, Newborn; Neopterin; Phenylalanine Hydroxylase; Phenylketonurias	2002
Tetrahydrobiopterin and dietary restriction in mild phenylketonuria. The New England journal of medicine, 2002, Dec-26, Volume: 347, Issue:26 Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias	2002
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Human mutation, 2003, Volume: 21, Issue:4 Topics: Administration, Oral; Amino Acid Substitution; Biopterins; Child; Drug Administration Schedule; Humans; Infant; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2003
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene. European journal of pediatrics, 2003, Volume: 162, Issue:3 Topics: Biopterins; Gene Expression Regulation; Homozygote; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2003
Tetrahydrobiopterin and mild phenylketonuria. The New England journal of medicine, 2003, Apr-24, Volume: 348, Issue:17 Topics: Biopterins; Humans; Phenotype; Phenylalanine; Phenylketonurias; Research Design	2003
Tetrahydrobiopterin and mild phenylketonuria. The New England journal of medicine, 2003, Apr-24, Volume: 348, Issue:17 Topics: Biopterins; Humans; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Selection Bias	2003
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency. Amino acids, 2003, Volume: 25, Issue:1 Topics: Biopterins; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2003
[An eighteen-year study on phenylketonuria]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae, 2003, Volume: 25, Issue:2 Topics: Biopterins; Child, Preschool; Electroencephalography; Female; Follow-Up Studies; Genotype; Humans; Infant; Magnetic Resonance Imaging; Male; Mass Screening; Phenylketonurias; Phosphorus-Oxygen Lyases; Point Mutation	2003
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia. Journal of inherited metabolic disease, 2003, Volume: 26, Issue:4 Topics: Adolescent; Amino Acids; Biopterins; Depression; Dietary Supplements; Dose-Response Relationship, Drug; Headache; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Somatotypes	2003
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. Indian pediatrics, 2003, Volume: 40, Issue:9 Topics: B-Lymphocytes; Biopterins; Child; Child, Preschool; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; T-Lymphocytes	2003
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. The journal of gene medicine, 2003, Volume: 5, Issue:11 Topics: Animals; Animals, Genetically Modified; Biopterins; Bone Marrow; Chromatography, High Pressure Liquid; Crosses, Genetic; Disease Models, Animal; DNA, Complementary; Gene Expression; Globins; Humans; Luciferases; Mice; Phenylalanine Hydroxylase; Phenylketonurias; Promoter Regions, Genetic; Time Factors; Transfection; Transgenes	2003
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Biopterins; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2003
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatric research, 2004, Volume: 55, Issue:3 Topics: Biopterins; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2004
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. Molecular genetics and metabolism, 2004, Volume: 81, Issue:1 Topics: Animals; Biopterins; Cells, Cultured; Culture Media; Genetic Therapy; Injections, Intravenous; Kidney; Liver; Mice; Muscle, Skeletal; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors; Tissue Distribution	2004
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. Molecular genetics and metabolism, 2004, Volume: 81, Issue:2 Topics: Biopterins; Female; Follow-Up Studies; Humans; Infant, Newborn; Mutation; Phenylketonurias	2004
Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. Molecular genetics and metabolism, 2004, Volume: 82, Issue:3 Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; Chromosome Mapping; Crosses, Genetic; DNA Primers; Genetic Markers; Genotype; GTP Cyclohydrolase; Mice; Mice, Inbred C57BL; Mice, Inbred CBA; Mice, Neurologic Mutants; Phenylketonurias; Polymerase Chain Reaction	2004
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:4 Topics: Biopterins; Circadian Rhythm; Diet; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Quality of Life	2004
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Human mutation, 2004, Volume: 24, Issue:5 Topics: Biopterins; Calorimetry; Catalysis; Cell-Free System; Escherichia coli; Half-Life; Humans; Kinetics; Models, Molecular; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; Protein Biosynthesis; Protein Conformation; Recombinant Proteins; Thermodynamics; Transcription, Genetic	2004
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment. AJNR. American journal of neuroradiology, 2004, Volume: 25, Issue:9 Topics: 5-Hydroxytryptophan; Axons; Biopterins; Brain Damage, Chronic; Cerebral Cortex; Child; Child, Preschool; Combined Modality Therapy; Corpus Callosum; Diffusion Magnetic Resonance Imaging; Dominance, Cerebral; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Levodopa; Male; Neonatal Screening; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Pregnancy	2004
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS letters, 2004, Nov-19, Volume: 577, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biopterins; Blotting, Western; Gene Deletion; Gene Expression Regulation, Enzymologic; Genes, Recessive; Heterozygote; Humans; Kinetics; Liver; Mice; Mice, Knockout; Mice, Transgenic; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; RNA, Messenger; Transcription, Genetic	2004
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proceedings of the National Academy of Sciences of the United States of America, 2004, Nov-30, Volume: 101, Issue:48 Topics: Biopterins; Enzyme Stability; Humans; Kinetics; Models, Molecular; Mutagenesis, Site-Directed; Oxidation-Reduction; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine	2004
Phenylketonuria detected by the neonatal screening program in Thailand. The Southeast Asian journal of tropical medicine and public health, 2003, Volume: 34 Suppl 3 Topics: Biopterins; Blood Specimen Collection; Female; Fluorometry; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Program Evaluation; Public Health Administration; Thailand	2003
6-pyruvoyl tetrahydropterin synthase deficiency: a case report. The Southeast Asian journal of tropical medicine and public health, 2003, Volume: 34 Suppl 3 Topics: 5-Hydroxytryptophan; Biopterins; Dihydroxyphenylalanine; Female; Humans; Infant, Newborn; Neonatal Screening; Neopterin; Phenylketonurias; Phosphorus-Oxygen Lyases	2003
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2005, Volume: 43, Issue:5 Topics: Biopterins; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine Hydroxylase; Phenylketonurias	2005
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Animals; Biopterins; Calorimetry; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins	2005
An oxygraphic method for determining kinetic properties and catalytic mechanism of aromatic amino acid hydroxylases. Analytical biochemistry, 2005, Aug-01, Volume: 343, Issue:1 Topics: Amino Acid Substitution; Animals; Biopterins; Electrodes; Humans; Kinetics; Oxygen; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Tyrosine	2005
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of neurology, 2005, Volume: 58, Issue:1 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Cerebral Palsy; Child; Developmental Disabilities; Diagnostic Errors; Dopamine Agents; Female; Humans; Levodopa; Movement Disorders; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures	2005
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Body Size; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Treatment Outcome	2005
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Amino Acids; Biopterins; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index	2005
[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2005, Volume: 22, Issue:4 Topics: Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity	2005
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; New South Wales; Phenylalanine; Phenylketonurias	2005
Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. Journal of neurochemistry, 2005, Volume: 95, Issue:3 Topics: Adrenal Glands; Animals; Biopterins; Dopamine; Dopamine beta-Hydroxylase; Gene Expression Regulation, Enzymologic; Genes, Reporter; Growth Disorders; Humans; Mesencephalon; Mice; Mice, Inbred C57BL; Mice, Transgenic; Neostriatum; Norepinephrine; Nucleus Accumbens; Olfactory Bulb; Phenylketonurias; Phosphorus-Oxygen Lyases; Promoter Regions, Genetic; Tyrosine 3-Monooxygenase; Weaning	2005
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Administration, Oral; Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2005
Cellular accumulation of tetrahydrobiopterin following its administration is mediated by two different processes; direct uptake and indirect uptake mediated by a methotrexate-sensitive process. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Animals; Biopterins; Caco-2 Cells; Cells, Cultured; Folic Acid Antagonists; Hepatocytes; Humans; Intestinal Mucosa; Methotrexate; Phenylketonurias; Pterins; Rats	2005
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Amino Acids; Biopterins; Fatal Outcome; Gene Deletion; Hemochromatosis; Humans; Infant, Newborn; Kidney Tubules; Liver Failure; Male; Phenylketonurias; Syndrome	2005
Plasma biopterin levels and tetrahydrobiopterin responsiveness. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2005
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Genotype; Humans; Infant; Italy; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2005
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Dose-Response Relationship, Drug; Female; Humans; Infant, Newborn; Longitudinal Studies; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Weight Gain	2005
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Blood Specimen Collection; Chromatography, High Pressure Liquid; Diagnosis, Differential; Filtration; Humans; Infant, Newborn; Phenylketonurias; Pterins; Reference Values; Sensitivity and Specificity	2005
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Biopterins; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity	2005
Tetrahydrobiopterin and maternal PKU. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2005
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Molecular genetics and metabolism, 2006, Volume: 87, Issue:2 Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors	2006
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adolescent; Adult; Biopterins; Blood Platelets; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diet; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin; Tryptophan; Tryptophan Hydroxylase	2005
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells. FEBS letters, 2006, Mar-20, Volume: 580, Issue:7 Topics: Biopterins; Carcinoma, Hepatocellular; Cell Line, Tumor; Gene Expression Regulation, Neoplastic; Humans; Mutation, Missense; Phenylalanine Hydroxylase; Phenylketonurias; RNA, Messenger; Transcription, Genetic	2006
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]. Anales de pediatria (Barcelona, Spain : 2003), 2006, Volume: 64, Issue:2 Topics: Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Infant, Newborn; Nitric Oxide Synthase; Phenylalanine Hydroxylase; Phenylketonurias	2006
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Molecular nutrition & food research, 2006, Volume: 50, Issue:4-5 Topics: Amino Acids; Biopterins; Circadian Rhythm; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization	2006
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Genetic Variation; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2006
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2006, Volume: 23, Issue:3 Topics: 5-Hydroxytryptophan; Asian People; Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Humans; Infant; Levodopa; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	2006
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria. Journal of paediatrics and child health, 2006, Volume: 42, Issue:9 Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Humans; Infant Formula; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Retrospective Studies; Victoria	2006
[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2006, Volume: 23, Issue:6 Topics: Adult; Asian People; Biopterins; Child, Preschool; China; Female; Gene Frequency; Genotype; Humans; Infant; Male; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length	2006
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. Molecular genetics and metabolism, 2007, Volume: 90, Issue:3 Topics: Alcohol Oxidoreductases; Alleles; Base Sequence; Biopterins; Dihydropteridine Reductase; DNA Primers; Gene Frequency; Humans; Infant; Male; Malta; Molecular Biology; Mutation; Phenylketonurias	2007
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy. Molecular therapy : the journal of the American Society of Gene Therapy, 2007, Volume: 15, Issue:6 Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; DNA, Complementary; Female; Genetic Therapy; Hair; Liver; Male; Mice; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sex Factors; Time Factors	2007
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor. Clinica chimica acta; international journal of clinical chemistry, 2007, May-01, Volume: 380, Issue:1-2 Topics: Biopterins; DNA Mutational Analysis; Genotype; Humans; Infant, Newborn; Mutation; Neonatal Screening; Nitric Oxide Synthase; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Recombinant Fusion Proteins	2007
Response of phenylketonuria to tetrahydrobiopterin. The Journal of nutrition, 2007, Volume: 137, Issue:6 Suppl 1 Topics: Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylketonurias	2007
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. The Journal of pediatrics, 2007, Volume: 150, Issue:6 Topics: Biopterins; Child; Humans; Infant, Newborn; Nitric Oxide; Phenylalanine; Phenylketonurias	2007
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2007, Volume: 24, Issue:3 Topics: Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Time Factors	2007
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adult; Biopterins; Diet, Protein-Restricted; Humans; Infant, Newborn; Mutation; Patient Selection; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Predictive Value of Tests; Severity of Illness Index; Treatment Outcome	2007
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. Genetic testing, 2007,Summer, Volume: 11, Issue:2 Topics: Adolescent; Adult; Amino Acid Substitution; Biopterins; Child; DNA Mutational Analysis; Humans; Middle Aged; Models, Molecular; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Regulatory Sequences, Nucleic Acid; Sequence Deletion	2007
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:4 Topics: Biopterins; Dietary Supplements; Genotype; Humans; Infant, Newborn; Models, Biological; Models, Molecular; Mutation; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias	2007
Tetrahydrobiopterin for patients with phenylketonuria. Lancet (London, England), 2007, Aug-11, Volume: 370, Issue:9586 Topics: Biopterins; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic	2007
Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test. Molecular genetics and metabolism, 2007, Volume: 92, Issue:4 Topics: Adult; Biopterins; Breath Tests; Carbon Isotopes; Drug Combinations; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2007
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Human mutation, 2008, Volume: 29, Issue:1 Topics: Biopterins; China; Europe; Gene Expression Regulation, Enzymologic; Gene Frequency; Genetics, Population; Genotype; Humans; Korea; Models, Molecular; Mutation; Phenylalanine Hydroxylase; Phenylketonurias	2008
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Molecular genetics and metabolism, 2007, Volume: 92, Issue:4 Topics: Biopterins; Health Planning Guidelines; Humans; Phenylalanine; Phenylketonurias; Treatment Outcome	2007
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular genetics and metabolism, 2008, Volume: 93, Issue:3 Topics: Adolescent; Adult; Biopterins; Child; Dihydropteridine Reductase; Female; Follow-Up Studies; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Phenylketonurias; Phosphorus-Oxygen Lyases	2008
Is sapropterin treatment suitable for all subjects with phenylketonuria? Expert opinion on pharmacotherapy, 2008, Volume: 9, Issue:1 Topics: Adolescent; Adult; Biopterins; Clinical Trials, Phase III as Topic; Female; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome	2008
First drug approved for treatment of phenylketonuria. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists, 2008, Jan-15, Volume: 65, Issue:2 Topics: Biopterins; Drug Approval; Humans; Phenylalanine; Phenylketonurias; United States; United States Food and Drug Administration	2008
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. Journal of inherited metabolic disease, 2008, Volume: 31, Issue:1 Topics: Biopterins; Diagnostic Techniques and Procedures; Half-Life; Humans; Infant, Newborn; Models, Theoretical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors	2008
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. Early human development, 2008, Volume: 84, Issue:9 Topics: Biopterins; Genotype; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2008
Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. Journal of inherited metabolic disease, 2008, Volume: 31, Issue:1 Topics: Biopterins; Drug Administration Schedule; Half-Life; Humans; Phenylalanine; Phenylketonurias; Time Factors	2008
Recently-approved sapropterin reduces phenylalanine levels. Managed care (Langhorne, Pa.), 2008, Volume: 17, Issue:3 Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias	2008
Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: a potential for practical implementation. Molecular genetics and metabolism, 2008, Volume: 94, Issue:3 Topics: Algorithms; Biopterins; Enzyme Activation; Genotype; Humans; Infant, Newborn; Models, Theoretical; Neonatal Screening; Phenylalanine Hydroxylase; Phenylketonurias	2008
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae, 2008, Volume: 30, Issue:2 Topics: Asian People; Biopterins; Child, Preschool; DNA Mutational Analysis; Humans; Infant; Infant, Newborn; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases; Polymerase Chain Reaction	2008
[Diet therapy and coenzyme therapy in hereditary metabolic diseases]. Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1983, Volume: 131, Issue:8 Topics: Biopterins; Child; Child, Preschool; Coenzymes; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Neurotransmitter Agents; Phenylketonurias; Pregnancy; Pregnancy Complications	1983
Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin. Annals of neurology, 1983, Volume: 14, Issue:3 Topics: Biopterins; Blood Glucose; Child; Dose-Response Relationship, Drug; Growth Hormone; Humans; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Prolactin; Pteridines; Pterins	1983
[Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment]. Archives francaises de pediatrie, 1984, Volume: 41, Issue:1 Topics: Alcohol Oxidoreductases; Biopterins; Carbidopa; Follow-Up Studies; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Male; Neurotransmitter Agents; Phenylketonurias; Serotonin	1984
[Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants]. Archives francaises de pediatrie, 1983, Volume: 40 Suppl 1 Topics: Alcohol Oxidoreductases; Biopterins; Child; Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Pteridines; Pterins	1983
[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)]. Archives francaises de pediatrie, 1983, Volume: 40 Suppl 1 Topics: Alcohol Oxidoreductases; Biopsy, Needle; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Liver; Phenylalanine; Phenylketonurias; Pteridines; Pterins	1983
[Partial deficiency of tetrahydrobiopterin]. Archives francaises de pediatrie, 1983, Volume: 40 Suppl 1 Topics: Adolescent; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pteridines; Pterins	1983
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:2 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. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:3 Topics: Biopterins; Dihydropteridine Reductase; Erythrocytes; Female; Follow-Up Studies; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine	1984
[Hyperphenylalaninemia on account of biopterin deficiency. The phenylalanine hydroxylase complex and presentation of a patient with cofactor deficiency]. Ugeskrift for laeger, 1983, Nov-28, Volume: 145, Issue:48 Topics: Biopterins; Humans; Infant; Male; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1983
Therapeutic efficacy of tetrahydrobiopterin in Parkinson's disease. Advances in neurology, 1984, Volume: 40 Topics: Aged; Antidepressive Agents; Antiparkinson Agents; Biopterins; Brain; Depressive Disorder; Drug Evaluation; Female; Humans; Male; Middle Aged; Parkinson Disease; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1984
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. Archives of disease in childhood, 1984, Volume: 59, Issue:1 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Pteridines; Specimen Handling	1984
Current status of biopterin screening. The Journal of pediatrics, 1984, Volume: 104, Issue:4 Topics: Biopterins; Chromatography, High Pressure Liquid; Humans; Infant; Infant, Newborn; Mass Screening; Neopterin; Phenylalanine; Phenylketonurias; Pteridines	1984
[The phenylalanine hydroxylase system]. Archives francaises de pediatrie, 1983, Volume: 40 Suppl 1 Topics: Adult; Biopterins; Child; Dihydropteridine Reductase; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1983
American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism. Pediatrics, 1982, Volume: 69, Issue:1 Topics: Biopterins; Congenital Hypothyroidism; Female; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Thyroid Hormones	1982
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man. European journal of pediatrics, 1982, Volume: 138, Issue:2 Topics: Biopterins; Child, Preschool; Female; Humans; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Serotonin	1982
Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain. Pediatrics, 1982, Volume: 70, Issue:3 Topics: Biopterins; Brain; Child; Child, Preschool; Female; Humans; Male; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins	1982
Screening for medical intervention: the PKU experience. Progress in clinical and biological research, 1982, Volume: 103 Pt B Topics: Biopterins; Female; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias	1982
Phenylketonuria with a progressive neurological disorder not responsive to tetrahydrobiopterin. Acta paediatrica Scandinavica, 1982, Volume: 71, Issue:5 Topics: Biopterins; Female; Humans; Infant; Nerve Degeneration; Phenylketonurias; Pteridines	1982
[Hyperphenylalaninemia in 1981. A diagnostic approach (author's transl)]. Archives francaises de pediatrie, 1981, Volume: 38, Issue:8 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Clinical Enzyme Tests; Diagnosis, Differential; Dihydropteridine Reductase; Humans; Infant; Infant, Newborn; Liver; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1981
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). The Journal of pediatrics, 1980, Volume: 96, Issue:5 Topics: Biopterins; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines	1980
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Portugal; Pterins	1993
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics, 1994, Nov-15, Volume: 24, Issue:2 Topics: Alcohol Oxidoreductases; Base Sequence; Biopterins; Cells, Cultured; DNA Primers; Humans; Infant; Male; Molecular Sequence Data; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	1994
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. The Journal of pediatrics, 1995, Volume: 126, Issue:3 Topics: Base Sequence; Biopterins; Diagnostic Errors; GTP Cyclohydrolase; Humans; Infant; Male; Molecular Sequence Data; Phenylketonurias; Point Mutation	1995
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. Clinica chimica acta; international journal of clinical chemistry, 1994, Volume: 226, Issue:2 Topics: Alcohol Oxidoreductases; Amniotic Fluid; Biopterins; Female; Fetus; GTP Cyclohydrolase; Humans; Hydro-Lyases; Neopterin; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis; Pterins; Xanthopterin	1994
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency. European journal of pediatrics, 1994, Volume: 153, Issue:8 Topics: Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Infant; Phenylalanine; Phenylketonurias	1994
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clinica chimica acta; international journal of clinical chemistry, 1993, Jul-16, Volume: 216, Issue:1-2 Topics: Alcohol Oxidoreductases; Biopterins; Erythrocytes; Female; Half-Life; Humans; Kinetics; Male; Neopterin; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins	1993
Tetrahydrobiopterin deficiency and an international database of patients. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries	1993
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency. Advances in experimental medicine and biology, 1993, Volume: 338 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). Advances in experimental medicine and biology, 1993, Volume: 338 Topics: Animals; Biopterins; Brain; Disease Models, Animal; Female; Fetus; Guinea Pigs; Infusions, Intravenous; Liver; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine	1993
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. American journal of human genetics, 1993, Volume: 53, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors	1993
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. European journal of pediatrics, 1993, Volume: 152, Issue:8 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Chemical Analysis; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	1993
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. Pediatric research, 1993, Volume: 33, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Catalysis; Child; Child, Preschool; Female; Humans; Hydroxylation; Infant; Male; Phenylalanine; Phenylketonurias	1993
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. Human genetics, 1996, Volume: 98, Issue:1 Topics: Alleles; Biopterins; Egypt; Electrophoresis, Polyacrylamide Gel; Genetic Testing; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Sequence Analysis	1996
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. Human genetics, 1996, Volume: 98, Issue:3 Topics: Adult; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; China; Codon; DNA, Complementary; Humans; Infant; Male; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases	1996
Experiencing classical enzymology in its prime. Protein science : a publication of the Protein Society, 1996, Volume: 5, Issue:8 Topics: Antioxidants; Biochemistry; Biopterins; History, 20th Century; Humans; Ketoglutarate Dehydrogenase Complex; Male; Phenylketonurias; United States	1996
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia. Journal of intellectual disability research : JIDR, 1997, Volume: 41 ( Pt 3) Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior	1997
Microtiter plate assay for biopterin using cryopreserved Crithidia fasciculata. Methods in enzymology, 1997, Volume: 281 Topics: Animals; Biological Assay; Biopterins; Crithidia fasciculata; Cryoprotective Agents; Humans; Molecular Structure; Phenylalanine; Phenylketonurias; Reference Values; Reproducibility of Results; Sensitivity and Specificity	1997
On the dialectic between molecular biology and integrative physiology: toward a new medical science. Perspectives in biology and medicine, 1997,Summer, Volume: 40, Issue:4 Topics: Antioxidants; Biopterins; Disease; Forecasting; Goals; Homeostasis; Humans; Medicine; Molecular Biology; Phenylketonurias; Physiology; Research Support as Topic	1997
Genetic disorders involving recycling and formation of tetrahydrobiopterin. Advances in pharmacology (San Diego, Calif.), 1998, Volume: 42 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Incidence; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1998
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Biopterins; Carcinoma, Hepatocellular; Dihydropteridine Reductase; DNA; Gene Expression; Gene Transfer Techniques; Genetic Vectors; Humans; Infant, Newborn; Liver Neoplasms; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Retroviridae; T-Lymphocytes; Tumor Cells, Cultured	1997
Expression and characterization of the catalytic domain of human phenylalanine hydroxylase. Archives of biochemistry and biophysics, 1997, Dec-15, Volume: 348, Issue:2 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
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Human mutation, 1998, Volume: 11, Issue:1 Topics: Alcohol Oxidoreductases; Alleles; Amino Acid Substitution; Asian People; Biopterins; China; DNA Mutational Analysis; Female; Fetal Diseases; Gene Frequency; Humans; Multienzyme Complexes; Mutation; Pedigree; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Taiwan	1998
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. Pediatric research, 1998, Volume: 43, Issue:4 Pt 1 Topics: Adolescent; Biopterins; Carbidopa; Delayed-Action Preparations; Drug Combinations; Female; Follicle Stimulating Hormone; Human Growth Hormone; Humans; Hydrocortisone; Hyperprolactinemia; Insulin; Levodopa; Luteinizing Hormone; Melatonin; Phenylketonurias; Phosphorus-Oxygen Lyases; Prolactin	1998
Dihydropteridine reductase deficiency localized to the central nervous system. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:4 Topics: Biopterins; Central Nervous System; Child; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Phenylketonurias	1998
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3 Topics: Administration, Oral; Biopterins; Child; Child, Preschool; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine	1999
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. The Journal of pediatrics, 1999, Volume: 135, Issue:3 Topics: Administration, Oral; Adolescent; Antioxidants; Biopterins; Child; Dihydropteridine Reductase; DNA Mutational Analysis; Drug Monitoring; Female; Humans; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1999
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Human mutation, 2000, Volume: 16, Issue:1 Topics: Alleles; Biopterins; Blotting, Western; Cells, Cultured; Child; Chromosomes, Human, Pair 11; DNA Mutational Analysis; Female; Haplotypes; Humans; In Situ Hybridization, Fluorescence; Lymphocytes; Male; Microsatellite Repeats; Mutation; Pedigree; Phenotype; Phenylketonurias; Phosphorus-Oxygen Lyases; Polymorphism, Genetic; XYY Karyotype	2000
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. Molecular genetics and metabolism, 2000, Volume: 70, Issue:3 Topics: Adolescent; Animals; Biopsy; Biopterins; Child; Child, Preschool; Dogs; Female; Fibroblasts; Humans; Hydro-Lyases; Infant; Infant, Newborn; Intestinal Mucosa; Intestine, Small; Kidney; Leukocytes; Liver; Male; Molecular Structure; Mutation; Phenylketonurias; Polymorphism, Genetic; Rats; Skin; Swine	2000
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain & development, 2000, Volume: 22 Suppl 1 Topics: Biopterins; Female; Humans; Infant, Newborn; Neonatal Screening; Neopterin; Phenylketonurias; Phosphorus-Oxygen Lyases	2000
'Mommy, why can't I have a hamburger like the other kids?'. Gene therapy, 2000, Volume: 7, Issue:23 Topics: Adolescent; Adult; Biopterins; Diet, Protein-Restricted; Female; Genetic Therapy; Humans; Keratinocytes; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Skin Transplantation	2000
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes. Gene therapy, 2000, Volume: 7, Issue:23 Topics: Biopterins; Cell Line; Coculture Techniques; Gene Expression; Genetic Therapy; Genetic Vectors; GTP Cyclohydrolase; Humans; Keratinocytes; Liver; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retroviridae; Transfection	2000
[Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2001, Volume: 18, Issue:2 Topics: Biopterins; Child, Preschool; Humans; Infant; Infant, Newborn; Mutation; Neonatal Screening; Phenylketonurias	2001
Successful treatment of phenylketonuria with tetrahydrobiopterin. European journal of pediatrics, 2001, Volume: 160, Issue:5 Topics: Antioxidants; Biopterins; Diet Therapy; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2001
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Human mutation, 2001, Volume: 18, Issue:1 Topics: Alleles; Alternative Splicing; Asian People; Biopterins; China; DNA Mutational Analysis; Exons; Female; Frameshift Mutation; Genotype; Humans; Male; Mutation; Mutation, Missense; Pedigree; Phenotype; Phenylketonurias; Phosphorus-Oxygen Lyases; RNA Splice Sites; RNA, Messenger; Sequence Deletion; Taiwan; White People	2001
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. American journal of human genetics, 2001, Volume: 69, Issue:2 Topics: Adolescent; Alcohol Oxidoreductases; Alleles; Base Sequence; Biopterins; Cells, Cultured; Child; Consanguinity; DNA Mutational Analysis; Dopamine; Female; Fibroblasts; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Mutation, Missense; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Skin; Turkey	2001
Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology, 2001, Sep-11, Volume: 57, Issue:5 Topics: Adolescent; Antioxidants; Biogenic Monoamines; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Tyrosine	2001
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. Clinica chimica acta; international journal of clinical chemistry, 2001, Volume: 313, Issue:1-2 Topics: 5-Hydroxytryptophan; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Female; Genetic Carrier Screening; Humans; Incidence; Levodopa; Mass Screening; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis; Taiwan; Treatment Outcome	2001
[Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency]. Zhonghua yi xue za zhi, 2000, Volume: 80, Issue:7 Topics: Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA, Complementary; Female; Genetic Testing; Humans; Infant; Male; Mutation, Missense; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	2000
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clinica chimica acta; international journal of clinical chemistry, 2002, Volume: 317, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Specimen Collection; Calibration; Colorimetry; False Positive Reactions; Germany; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Reproducibility of Results	2002
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. Journal of neurochemistry, 2002, Volume: 80, Issue:2 Topics: Adolescent; Adult; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Humans; Infant; Nitrates; Nitric Oxide; Nitric Oxide Synthase; Nitrites; Phenylketonurias; Phosphorus-Oxygen Lyases	2002
Mental illness in mild PKU responds to biopterin. Molecular genetics and metabolism, 2002, Volume: 75, Issue:3 Topics: Adult; Biopterins; Depression; Female; Humans; Mental Disorders; Mutation; Panic Disorder; Phenylalanine Hydroxylase; Phenylketonurias	2002
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:8 Topics: 5-Hydroxytryptophan; Base Sequence; Biopterins; DNA Mutational Analysis; Founder Effect; Humans; Infant, Newborn; Intelligence; Levodopa; Mutation; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Taiwan; Treatment Outcome	2001
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. Chinese medical journal, 2002, Volume: 115, Issue:2 Topics: Biopterins; China; DNA Mutational Analysis; DNA, Complementary; Follow-Up Studies; Genetic Testing; Humans; Mutation, Missense; Neopterin; Phenylketonurias; Phosphorus-Oxygen Lyases	2002
Structural comparison of bacterial and human iron-dependent phenylalanine hydroxylases: similar fold, different stability and reaction rates. Journal of molecular biology, 2002, Jul-12, Volume: 320, Issue:3 Topics: Amino Acid Sequence; Animals; Biopterins; Catalytic Domain; Chromobacterium; Conserved Sequence; Crystallography, X-Ray; Enzyme Stability; Humans; Iron; Kinetics; Metals; Models, Molecular; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Folding; Rats; Recombinant Proteins; Sequence Homology, Amino Acid; Species Specificity	2002
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. Archives of disease in childhood, 1978, Volume: 53, Issue:8 Topics: Biopterins; Female; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines	1978
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. Pediatric research, 1992, Volume: 32, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child, Preschool; Dihydropteridine Reductase; DNA Mutational Analysis; Erythrocytes; Female; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Pterins; Skin	1992
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria. Journal of Tongji Medical University = Tong ji yi ke da xue xue bao, 1992, Volume: 12, Issue:4 Topics: Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; Neopterin; Phenylketonurias	1992
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:3 Topics: Biopterins; Chromatography, High Pressure Liquid; Diagnosis, Differential; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Manganese; Manganese Compounds; Neonatal Screening; Oxides; Paper; Phenylalanine; Phenylketonurias; Pterins	1992
Phenylketonuria mutation in southern Europeans. Lancet (London, England), 1991, Apr-06, Volume: 337, Issue:8745 Topics: Base Sequence; Biopterins; Ethnicity; Europe; Humans; Infant, Newborn; Molecular Sequence Data; Mutation; Phenylketonurias	1991
Tetrahydrobiopterin loading test in hyperphenylalaninemia. Pediatric research, 1991, Volume: 30, Issue:5 Topics: Administration, Oral; Alcohol Oxidoreductases; Biopterins; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases	1991
Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:2 Topics: Belgium; Biopterins; Czechoslovakia; Diagnosis, Differential; Dihydropteridine Reductase; France; Humans; Infant, Newborn; Liver; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portugal; Prospective Studies; Pteridines; Retrospective Studies	1991
Combined transient and peripheral defects in tetrahydrobiopterin synthesis. The Journal of pediatrics, 1991, Volume: 118, Issue:2 Topics: Alcohol Oxidoreductases; Biopterins; Humans; Infant; Phenylketonurias; Phosphorus-Oxygen Lyases	1991
7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase. FEBS letters, 1991, Jul-08, Volume: 285, Issue:1 Topics: Animals; Biopterins; Hydrogen Peroxide; Hydroxylation; Kinetics; Liver; NAD; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine	1991
Neuroblastoma in a patient with dihydropteridine reductase deficiency. European journal of pediatrics, 1990, Volume: 149, Issue:10 Topics: Adrenal Gland Neoplasms; Biopterins; Catecholamines; Child; Coenzymes; Female; Humans; Neuroblastoma; Phenylalanine; Phenylketonurias; Serotonin	1990
L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans. Journal of neurology, neurosurgery, and psychiatry, 1990, Volume: 53, Issue:7 Topics: Adolescent; Akinetic Mutism; Biopterins; Child, Preschool; Humans; Infant; Levodopa; Methionine; NADH, NADPH Oxidoreductases; Phenylketonurias; Pyridoxine; S-Adenosylmethionine; Tetrahydrofolates; Tyrosine	1990
[Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)]. Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1989, Volume: 137, Issue:2 Topics: Alcohol Oxidoreductases; Biopterins; Diagnosis, Differential; Germany, West; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases	1989
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. The Journal of pediatrics, 1989, Volume: 115, Issue:4 Topics: Antineoplastic Agents; Biopterins; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Precursor Cell Lymphoblastic Leukemia-Lymphoma	1989
Screening for malignant phenylketonuria. Lancet (London, England), 1987, Feb-28, Volume: 1, Issue:8531 Topics: Biopterins; Diagnosis, Differential; Humans; Phenylketonurias	1987
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency. Lancet (London, England), 1987, Jul-25, Volume: 2, Issue:8552 Topics: Biopterins; Humans; Infant, Newborn; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias	1987
Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver. European journal of pediatrics, 1985, Volume: 144, Issue:1 Topics: Adult; Alcohol Oxidoreductases; Biopterins; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Humans; Infant; Liver; Male; Neopterin; Phenylketonurias; Pteridines; Pyrophosphatases	1985
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:3 Topics: Biopterins; Child, Preschool; Dihydropteridine Reductase; Female; Fibroblasts; Humans; Male; Mutation; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias	1986
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pterins	1988
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. European journal of pediatrics, 1987, Volume: 146, Issue:3 Topics: Alcohol Oxidoreductases; Biopterins; Child, Preschool; Female; Heterozygote; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins	1987
[Trial of indirect screening of tetrahydrobiopterin deficiency]. Pediatrie, 1987, Volume: 42, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine	1987
Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. The Journal of pediatrics, 1986, Volume: 109, Issue:4 Topics: Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diagnosis, Differential; Diet; Humans; Infant; Leucovorin; Phenylalanine Hydroxylase; Phenylketonurias; Pterins	1986
Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection. Journal of chromatography, 1986, Sep-05, Volume: 381, Issue:2 Topics: Antioxidants; Biopterins; Chromatography, High Pressure Liquid; Electrochemistry; Herpes Simplex; Humans; Oxidation-Reduction; Phenylalanine Hydroxylase; Phenylketonurias; Pterins; Spectrometry, Fluorescence	1986
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin. Israel journal of medical sciences, 1985, Volume: 21, Issue:6 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Drug Combinations; Female; Humans; Infant, Newborn; Levodopa; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine	1985
Hyperphenylalaninaemia caused by defects in biopterin metabolism. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biogenic Amines; Biopterins; Brain; Humans; Phenylalanine; Phenylketonurias; Pteridines	1985
Differential diagnosis of tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pteridines	1985
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Biogenic Amines; Biopterins; Brain; Folic Acid; Folic Acid Deficiency; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines	1985
Tetrahydrobiopterin in dihydropteridine reductase deficiency. The New England journal of medicine, 1986, Feb-20, Volume: 314, Issue:8 Topics: Biopterins; Humans; NADH, NADPH Oxidoreductases; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines	1986
Differential diagnosis and treatment of hyperphenylalaninaemia. Progress in clinical and biological research, 1985, Volume: 177 Topics: Acid-Base Equilibrium; Amino Acids; Biopterins; Diagnosis, Differential; Galactosemias; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias	1985
Effect of glucagon on hepatic phenylalanine hydroxylase in vivo. Bioscience reports, 1985, Volume: 5, Issue:6 Topics: Animals; Biopterins; Dietary Proteins; Glucagon; Humans; Liver; Male; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorylation; Rats; Rats, Inbred Strains	1985