phenylalanine has been researched along with sapropterin in 351 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 72 (20.51) | 18.7374 |
| 1990's | 59 (16.81) | 18.2507 |
| 2000's | 96 (27.35) | 29.6817 |
| 2010's | 102 (29.06) | 24.3611 |
| 2020's | 22 (6.27) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| Kaufman, S | 7 |
| Dhondt, JL | 5 |
| Shintaku, H | 3 |
| Blau, N; Endres, W; Giudici, T; Heizmann, CW; Kierat, L; Wang, M | 1 |
| Blaskovics, M; Blau, N; Curtius, HC; Giudici, T; Kierat, L | 1 |
| Endres, W | 1 |
| al Aqeel, A; Gascon, GG; Hughes, H; Ozand, PT; Reynolds, CT; Subramanyam, SB | 1 |
| Kaufman, S; Pigeon, D; Ribeiro, P | 1 |
| Kaufman, S; Tipper, J | 1 |
| Cotton, RG; Dianzani, I; Ferraris, S; Ferrero, GB; Guardamagna, O; Ponzone, A | 1 |
| al Aqeel, A; al Nasser, M; Blau, N; Brismar, J; Gascon, G; Hughes, H; Nester, M; Ozand, PT; Reynolds, CT; Subramanyan, SB | 1 |
| Davis, MD; Kaufman, S | 2 |
| Carson, DJ; Dempsey, SI; Greeves, LG; Hyland, K; Leeming, RJ | 1 |
| Armarego, WL; Cotton, RG; Jennings, IG; Russell, RG | 1 |
| Miyatake, T; Nakajima, T; Owada, M; Tanaka, K; Yoneda, M | 1 |
| Curtius, HC; Niederwieser, A | 3 |
| Hayashi, T; Nakane, A; Naruse, H; Takesada, M; Yamazaki, K | 1 |
| Batzler, U; Lutz, P; Schmidt, H | 1 |
| Blau, N; Matalon, R; Michals, K; Rouse, B | 1 |
| Blau, N; Curtius, AC; Kierat, L; Kohne, E; Leupold, D | 1 |
| Duch, DS; Nichol, CA; Smith, GK | 1 |
| Blau, N; Curtius, HC; Endres, W; Ibel, H; Kierat, L | 1 |
| Cotton, RG; Jennings, IG; Parniak, MA | 1 |
| Døskeland, AP; Døskeland, SO; Flatmark, T; Haavik, J | 1 |
| Cotton, RG | 1 |
| Bracco, G; Cotton, RG; Guardamagna, O; Jennings, I; Ponzone, A | 1 |
| Blaskovics, M; Giudici, TA | 1 |
| Matsuo, N | 1 |
| Curtius, HC; Endres, W; Hyànek, J; Leimbacher, W; Niederwieser, A; Shintaku, H; Zeman, J | 1 |
| Dhondt, JL; Farriaux, JP | 3 |
| Bode, VC; Cotton, RG; Jennings, I; Ledley, FD; McDonald, JD; Woo, SL | 1 |
| Bode, VC; McDonald, JD | 1 |
| Andre, S; Dhondt, JL; Dorche, C; Forzy, G; Guibaud, P; Hayte, JM; Rolland, MO | 1 |
| Bracco, G; Ferraris, S; Guardamagna, O; Ponzone, A | 1 |
| Howells, DW; Hyland, K; Smith, I | 1 |
| Dhondt, JL; Farriaux, JP; Hayte, JM | 1 |
| Boudha, A; Dhondt, JL; Farriaux, JP; Largillière, C; Leeming, RJ; Ringel, J; Roger, MM | 1 |
| Blonder, J; Cohen, BE; Normand, M; Peled, I; Quint, J; Szeinberg, A | 1 |
| Curtius, HC; Niederwieser, A; Ponzone, A | 1 |
| Hyland, K; Kendall, B; Smith, I | 1 |
| Güttler, F; Lou, HC; Lykkelund, C; Niederwieser, A; Rasmussen, V | 1 |
| Cotton, RG; Danks, DM; Dhondt, JL | 1 |
| Fukuda, K; Hyodo, S; Kobayashi, Y; Tanaka, T; Usui, T | 1 |
| Hase, Y; Kodama, S; Matsuo, T; Nishio, H; Sawada, Y; Takahashi, T; Takumi, T | 1 |
| Bickel, H | 1 |
| Leeming, RJ | 2 |
| Kapatos, G; Kaufman, S; Rizzo, WB; Schulman, JD; Tamarkin, L; Van Loon, GR | 1 |
| Berlow, S; Hoganson, G; Kaufman, S; Matalon, R; Milstien, S; Naylor, E; Schuett, V; Seifert, W | 1 |
| Aziz, AA; Blair, JA; Leeming, RJ; Sylvester, PE | 1 |
| Harpey, JP | 1 |
| Curtius, HC; Leeming, RJ; Niederwieser, A; Rey, F; Rey, J; Saudubray, JM | 1 |
| Lipson, A; O'Halloran, M; Potter, M; Wilken, B; Yu, J | 1 |
| Kitagawa, T; Nakabayashi, H; Owada, M | 1 |
| Güttler, F; Lou, H; Lykkelund, C; Niederwieser, A | 1 |
| Døskeland, AP; Døskeland, SO; Flatmark, T; Ogreid, D | 1 |
| Kaufman, S; Parniak, MA; Phillips, RS | 2 |
| Barford, PA; Blair, JA; Leeming, RJ; Smith, I | 1 |
| Kaufman, S; Phillips, RS | 1 |
| Matalon, R | 1 |
| Atarés, M; Blau, N; Cardesa-Garcia, J; Joller, P; Niederwieser, A; Wang, M | 1 |
| Hase, Y; Iwai, K; Kobashi, M; Oura, T; Shintaku, H; Turuhara, T | 1 |
| Iwaki, M; Kaufman, S; Phillips, RS | 1 |
| 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 |
| Cotton, RG; Danks, DM | 1 |
| Blau, N; Cabral, A; de Almeida, IT; Eusébio, F; Leandro, PP; Matasovic, A; Portela, R; Tasso, T | 1 |
| Haavik, J; Knappskog, PM | 1 |
| Blau, N; Coskun, T; Niederwieser, A; Ozalp, I; Tokatli, A | 1 |
| Ashida, A; Hatakeyama, K; Owada, M | 1 |
| Mitnaul, LJ; Shiman, R | 1 |
| Gray, DW; Shiman, R; Xia, T | 1 |
| Blau, N; Burlina, AB; Ferraris, S; Piovan, S; Ponzone, A; Spada, M | 1 |
| Blau, N; Coelho, JC; Dutra-Filho, CS; Giugliani, R; Jardim, LB | 1 |
| Abou-Saleh, MT; Anderson, DN; Blair, JA; Wilkinson, AM | 1 |
| Kaufman, S; Milstien, S; Sakai, N | 1 |
| Blau, N; Harvie, A; Heizmann, CW; Leimbacher, W; Thöny, B | 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 |
| Ayling, JE; Bailey, SW; Boerth, SR; Dillard, SB | 1 |
| 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 |
| Harada, T; Hatakeyama, K; Kagamiyama, H | 1 |
| Bosco, P; Calì, F; Ceratto, N; Chiavetta, V; Hashem, N; Romano, V | 1 |
| Bonner, TI; Jaffe, H; Kowlessur, D; Milstien, S | 1 |
| Dhondt, JL; Leroux, B | 1 |
| Billiar, TR; Hatakeyama, K; Naylor, E; Pastor, CM; Singleton, S; Williams, D; Yoneyama, T | 1 |
| Citron, BA; Kaufman, S; Kowlessur, D | 1 |
| Barnes, I; Blau, N; Dhondt, JL | 1 |
| Blau, N; Heizmann, CW; Leimbacher, W; Stuhlmann, H; Thöny, B | 1 |
| Davis, MD; Kaufman, S; Kempner, E; Parniak, MA | 1 |
| Pogson, D | 1 |
| Daubner, SC; Fitzpatrick, PF; Hillas, PJ | 1 |
| Herrmann, FH; Hibberts, NA; Metelmann, HR; Moore, J; Panske, A; Sawatzki, J; Schallreuter, KU; Zschiesche, M | 1 |
| Asada, M; Isshiki, G; Sawada, Y; Shintaku, H | 1 |
| Blau, N; Laufs, S; Thöny, B | 1 |
| Hatakeyama, K; Yoneyama, T | 2 |
| Beazley, WD; Hibberts, NA; Pittelkow, MR; Schallreuter, KU; Swanson, NN | 1 |
| Chang, D; Harding, CO; Messing, A; Wild, K; Wolff, JA | 1 |
| Hyland, K | 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 |
| Ichinose, H; Inagaki, H; Nagatsu, T; Ohye, T; Suzuki, T | 1 |
| Schallreuter, KU | 1 |
| Bjørgo, E; Erlandsen, H; Flatmark, T; Stevens, RC | 1 |
| Daff, S; Sagami, I; Sato, Y; Shimizu, T | 1 |
| Haeno, S; Ichinose, H; Maeda, T; Mori, D; Nagatsu, T; Oda, K; Suzuki, T | 1 |
| Jennings, IG; Kobe, B; Teh, T | 1 |
| Harding, CO | 1 |
| Blaese, RM; Christensen, R; Jensen, TG; Kolvraa, S | 1 |
| Cotton, RG; Jennings, IG; Kobe, B | 1 |
| Aulela-Scholz, C; Blau, N; Trefz, FK | 1 |
| Erlandsen, H; Stevens, RC | 1 |
| Blau, N; Bonafé, L; Czarnecki, B; Penzien, JM; Thöny, B | 1 |
| Berge, SV; Flatmark, T; Stokka, AJ | 1 |
| Parniak, MA; Scriver, CR; Waters, PJ | 1 |
| Bakker, JA; Bekhof, J; Blau, N; De Koning, TJ; Dorland, L; Duran, M; Forget, PP; Loots, W; Ploos van Amstel, HK; Poll-The, BT; Rubio-Gonzalbo, ME; Rubio-Gozalbo, ME; Spaapen, LJ; Velter, C | 1 |
| Blau, N; Bonafé, L; Burlina, AB; Burlina, AP; Güttler, F; Romstad, A | 1 |
| Huang, X; Liu, X; Ye, J | 1 |
| Hoffmann, GF; Mayatepek, E; Schulze, A | 1 |
| Chiang, SC; Chien, YH; Chiu, YN; Chou, SP; Chu, SY; Huang, A; Hwu, WL; Lin, JM; Wang, TR | 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 |
| Seashore, MR | 1 |
| Demmelmair, H; Habich, M; Hoffmann, B; Muntau, AC; Roscher, AA; Röschinger, W; Sommerhoff, CP | 1 |
| Gesierich, A; Niroomand, F; Tiefenbacher, CP | 1 |
| Maass, A; Moser, A; Scholz, J | 1 |
| Burgard, P; Lindner, M; Mayatepek, E; Schulze, A; Steinfeld, R; Zschocke, J | 1 |
| Peduto, A; Ponzone, A; Spada, M | 1 |
| Aulehla-Scholz, C; Das, AM; Illsinger, S; Lücke, T; Sander, J | 1 |
| Kohlschütter, A; Lukacs, Z; Steinfeld, R; Ullrich, K | 2 |
| Guttler, F; Koch, R; Matalon, R; Moats, R; Moseley, KD; Yano, S | 1 |
| GUROFF, G | 1 |
| Coskun, T; Ersoy, F; Karagoz, T; Ozalp, I; Ozkaya, E | 1 |
| Blau, N; Trefz, FK | 1 |
| Arnold, LA; Egami, K; Hyland, K; Jinnah, HA; Kasim, S | 1 |
| Blau, N; Erlandsen, H | 1 |
| Hase, Y; Inui, K; Kajiwara, M; Kawajiri, M; Nishi, Y; Okano, Y; Sakai, N; Takatori, K; Tanaka, Y; Yamano, T | 1 |
| Coleman, CM; Neckameyer, WS | 1 |
| Chien, YH; Hwu, WL; Liu, HM; Peng, SS; Tseng, WY | 1 |
| Hatakeyama, K; Haynes, TE; Meininger, CJ; Shi, W; Wu, G | 1 |
| Ding, Z; Martínez, A; Thöny, B | 1 |
| Artuch, R; Campistol, J; Gómez, L; Gutiérrez, A; Lambruschini, N; Mas, A; Mila, M; Pérez-Dueñas, B; Pineda, J; Vilaseca, MA | 1 |
| Boonpuan, K; Charoensiriwatana, W; Pangkanon, S; Ratrisawadi, V; Srisomsap, C; Svasti, J; Techasena, W | 1 |
| Martinez, A; Pey, AL | 2 |
| 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 |
| Gu, XF; Han, LS; Qiu, WJ; Ye, J; Zhang, ZX | 1 |
| Alexander, I; Christodoulou, J; Earl, J; Ellaway, C; Mitchell, JJ; O'Grady, H; Wilcken, B; Wiley, V | 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 |
| 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 |
| Chao, HM; Clelland, JD; Guynn, RW; Read, LL; Reilly, MA; Richardson, MA; Suckow, RF; Taylor Clelland, CL | 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 |
| Chung, JH; Kim, JM; Laipis, P; Lee, YJ; Oh, SP; Park, S; Park, YS; Peris, J; Yang, S | 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 |
| Blau, N; Demirkol, M; Fiege, B; Fiori, L; Gärtner, KH; Giovannini, M; Ozen, I; Thöny, B; Zurflüh, MR | 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 |
| 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 |
| Burton, B; Cederbaum, S; Levy, H; Scriver, C | 1 |
| Doggrell, SA | 1 |
| Fuchs, D; Neurauter, G; Ploder, M; Roth, E; Schroecksnadel, K; Spittler, A | 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 |
| Blau, N | 1 |
| Morrow, T | 1 |
| Danecka, MK; Gersting, SW; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Sommerhoff, CP; Staudigl, M | 1 |
| Lee, KH; Lee, SY; Park, SO; Park, YS; Seo, KH; Supangat, S | 1 |
| Fuchs, D; Ledochowski, M; Neurauter, G; Scholl-Bürgi, S; Schröcksnadel, K; Schubert, C; Sperner-Unterweger, B | 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 |
| 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 |
| 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 |
| Keating, GM; Sanford, M | 1 |
| 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 | 1 |
| Hegge, K; Hegge, KA; Horning, KK; Peitz, GJ | 1 |
| Alluto, A; Ferraris, S; Mussa, A; Ponzone, A; Porta, F; Spada, M | 1 |
| Güttler, F; Nielsen, JB; Nielsen, KE | 1 |
| Harada, N; Ohira, T; Watanabe, Y; Yoshino, M | 1 |
| Danecka, MK; Domdey, KA; Eichinger, A; Fingerhut, R; Gersting, SW; Glossmann, H; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Staudigl, M; Zsifkovits, C | 1 |
| Frauendienst-Egger, G; Scheible, D; Trefz, FK | 1 |
| Bergner, A; Hamosh, A; Johnson, MR; Koerner, CB; Vernon, HJ | 1 |
| Merrin, M; Somaraju, UR | 3 |
| Cohen, AF; Dubois, EA | 1 |
| Bélanger-Quintana, A; Blau, N; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, FK; van Spronsen, FJ | 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 |
| 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 |
| 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 |
| Ahn, JK; Choi, JH; Chung, JH; Fu, YM; Hong, YH; Joe, CO; Kim, JW; Kwak, SS; Lee, DH; Meadows, GG; Min, H; Sohn, S; Suk, J; Yang, S | 1 |
| Blau, N; Thöny, B; Werner, ER | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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; Hoffmann, GF; Kühn, AA; Opladen, T | 1 |
| Andria, G; Burlina, A; Cerone, R; Giovannini, M; Leuzzi, V; Riva, E | 1 |
| Flydal, MI; Martinez, A | 1 |
| Chen, H; Chen, W; Chen, YQ; Feng, L; Feng, Y; Hao, G; Song, Y; Wang, H; Wang, L; Wang, Y; Yang, B; Zhang, H; Zhao, J | 1 |
| Abe, H; Banno, Y; Fujii, T; Katsuma, S; Kawamoto, M; Shimada, T | 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 |
| 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 |
| Antenor-Dorsey, JA; Christ, SE; Grange, DK; Hershey, T; McKinstry, RC; Rutlin, J; Shimony, JS; White, DA | 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 |
| Blank, RD; Hansen, KE; Ney, DM | 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 |
| Andersson, HC; Antshel, KM; Berry, SA; Braverman, NE; Burton, BK; Frazier, DM; Mitchell, J; Smith, WE; Thompson, BH; Vockley, J | 1 |
| Burton, BK; Cohen-Pfeffer, JL; Fong, CT; Grange, DK; Hillman, RE; Hunt, J; Mahoney, JJ; Vockley, J; Yano, S | 1 |
| Debray, FG; Feillet, F; Fofou-Caillierez, MB; Lotz-Havla, AS; Muntau, AC; Puchwein-Schwepcke, A; Trefz, FF; van Spronsen, F | 1 |
| Blau, N; Carducci, C; Shen, N | 1 |
| Yang, Y; Ye, Y | 1 |
| Gu, X; Ye, J | 1 |
| Burton, BK; Dimmock, D; Feigenbaum, A; Jurecki, E; Lang, W; Longo, N; Prasad, S; Siriwardena, K; Stockler, S; Waisbren, S; Zhang, C | 1 |
| Cai, H; Siu, KL | 1 |
| Cao, Z; Han, B; Liu, Y; Zhu, W; Zou, H | 1 |
| Brown, M; Charette, K; Levy, HL; Rohr, F; Wessel, A | 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 |
| 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 |
| 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 |
| Brown, PR; Channon, KM; Heikal, L; Hussein, D; McDonnell, JM; McNeill, E; Nandi, M; Starr, A; Sutton, BJ | 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 |
| 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 |
| Adamsen, D; Beckers, J; Blau, N; Crabtree, M; Fuchs, H; Gailus-Durner, V; Homma, D; Horsch, M; Hrabě de Angelis, M; Ichinose, H; Klingenspor, M; Konrad, D; Korner, G; Ledermann, B; Rassi, A; Rathkolb, B; Rebuffat, A; Rozman, J; Scavelli, R; Scherer, T; Thöny, B; Wolf, E; Wolfrum, C | 1 |
| Battelino, T; Groselj, U; Kelvisar, M; Kobe, H; Lampret, BR; Tansek, MZ | 1 |
| Azen, C; Fu, X; Moseley, K; Yano, S | 1 |
| Ackerman, HC; Alkaitis, MS | 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 |
| 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 |
| 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 |
| Ah Mew, N; Ayyub, O; Lyons, K; Rasberry, M; Viall, S | 1 |
| Borsch, J; Büttner, L; Danecka, MK; Eichinger, A; Gersting, SW; Möglich, T; Muntau, AC; Woidy, 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 |
| Arai-Ichinoi, N; Kure, S; Murayama, K; Sakamoto, O | 1 |
| Chen, C; Cui, Y; Li, M; Ma, L; Qu, J; Wang, E; Yang, T; Zhou, Y | 1 |
| Cai, Y; Huang, Y; Jiang, X; Li, D; Li, X; Lin, Y; Liu, H; Liu, L; Liu, Z; Lu, X; Peng, M; Shao, Y; Su, X; Tan, T; Tang, YP; Xu, J; Zeng, C; Zhang, W | 1 |
| Bagheri, S; Chalak, V; Eshraghi, P; Noroozi Asl, S | 1 |
| Evers, RAF; van Spronsen, FJ; van Vliet, D | 1 |
| Campistol Plana, J | 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 |
| Chen, Z; Han, B; He, C; Hui, Q; Li, X; Shen, M; Wang, K; Wang, L; Ye, F; Zou, H | 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 |
| Bauer, M; Ebenhoch, R; Kaltwasser, S; Meinecke, R; Mills, DJ; Nar, H; Prinz, S; Reinert, D; Rübbelke, M; Vonck, J; Weixler, L; Zeeb, M | 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 |
| 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 |
| Çıkı, K; Dursun, A; Özgül, RK; Pektaş, E; Sivri, HS; Tokatlı, A; Yıldız, Y; Yücel Yılmaz, D | 1 |
| Abatan, A; Adnot, S; Breau, M; Bréhat, J; Czibik, G; d'Humières, T; Delmont, T; Derumeaux, G; Halfaoui, M; Hatem, S; Liang, H; Marion, O; Martel, C; Mezdari, Z; Morin, D; Murat Altintas, D; Naushad, S; Pini, M; Radu, C; Sarwar, R; Sawaki, D; Suffee, N; Yavari, A; Zhang, Y | 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 |
| 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 |
| Capuron, L; Castanon, N; Cussotto, S; Fanet, H; Monchaux De Oliveira, C; Vancassel, S | 1 |
| Emerson, JP; Fitzpatrick, PF; Li, M; Subedi, BP | 1 |
| Evers, RAF; Huijbregts, SCJ; Leuzzi, V; MacDonald, A; van Spronsen, FJ; van Wegberg, AMJ | 1 |
| Çıkı, K; Coşkun, T; Dursun, A; Kahraman, AB; Özgül, RK; Sivri, S; Tokatlı, A; Yıldız, Y | 1 |
51 review(s) available for phenylalanine and sapropterin
| Article | Year |
|---|---|
Novel aspects of metabolism and function of tetrahydrobiopterin.
Topics: Biopterins; Dihydropteridine Reductase; Enzyme Activation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
Biopterin-responsive hyperphenylalaninemia.
Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
[Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction].
Topics: Biopterins; Diagnosis, Differential; Female; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications | 1992 |
[Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency].
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Female; Guanosine Triphosphate; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Phenylalanine; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis | 1987 |
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant, Newborn; Phenylalanine; Prenatal Diagnosis | 1989 |
[Tetrahydrobiopterin deficiency. Lessons from the analysis of 90 patients collected in the international register].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Body Fluids; Female; Humans; Infant, Newborn; Male; Phenylalanine; Registries; Synaptic Transmission | 1987 |
Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.
Topics: Alcohol Oxidoreductases; Animals; Biopterins; Body Fluids; Coenzymes; GTP Cyclohydrolase; Humans; Immune System Diseases; Mental Disorders; Metalloproteins; Molybdenum; Molybdenum Cofactors; Neoplasms; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Tetrahydrofolate Dehydrogenase; Tissue Distribution; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase | 1985 |
Regulation of the activity of hepatic phenylalanine hydroxylase.
Topics: Animals; Biopterins; Diet; Enzyme Activation; Glucagon; Humans; Ligands; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phosphoprotein Phosphatases; Phosphorylation; Rats | 1986 |
Hyperphenylalaninemia syndromes: current status of diagnosis and management.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome | 1988 |
Atypical cases of phenylketonuria.
Topics: Biopterins; Genetic Variation; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1987 |
Enzymology of the phenylalanine-hydroxylating system.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Hydroxylation; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase | 1987 |
Tetrahydrobiopterin biosynthetic pathway and deficiency.
Topics: Alcohol Oxidoreductases; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis | 1987 |
Pteridines and mono-amines: relevance to neurological damage.
Topics: Amines; Biopterins; Folic Acid; Humans; Nervous System; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1986 |
The role of tetrahydrobiopterin in neurological disease: a review.
Topics: Aluminum; Biopterins; Brain; Dementia; Humans; Lead Poisoning; Nervous System Diseases; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines | 1981 |
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Folic Acid; GTP Cyclohydrolase; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines | 1984 |
Phenylketonuria and its variants.
Topics: Biopterins; Diagnosis, Differential; Genetic Carrier Screening; Genetic Linkage; Humans; Infant, Newborn; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1983 |
[Tetrahydroblopterin. Metabolism and metabolic role of unconjugated pteridines (author's transl)].
Topics: Animals; Biological Transport; Biopterins; Cattle; Humans; Mice; Mixed Function Oxygenases; Neoplasms; Neurotic Disorders; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Pteridines; Rats | 1980 |
Phenylketonuria: epitome of human biochemical genetics (first of two parts).
Topics: Animals; Biopterins; Brain; Chromosome Mapping; Female; Homeostasis; Humans; Intellectual Disability; Liver; Mutation; Myelin Proteins; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1980 |
Phenylketonuria and other phenylalanine hydroxylation mutants in man.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Dihydropteridine Reductase; Female; Fetal Diseases; Gene Frequency; Genetic Carrier Screening; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats | 1980 |
[Biogenic amines and hyperphenylalaninemia (author's transl)].
Topics: Biogenic Amines; Biopterins; Dihydropteridine Reductase; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1981 |
The mechanism of cofactor regeneration during phenylalanine hydroxylation.
Topics: Animals; Biopterins; Dihydropteridine Reductase; Hydro-Lyases; Hydroxylation; Male; Phenylalanine; Phenylalanine Hydroxylase; Rats | 1993 |
[Disorders of tetrahydrobiopterin homeostasis].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Hydro-Lyases; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Prognosis | 1998 |
Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism.
Topics: Biogenic Monoamines; Biopterins; Catecholamines; Humans; Metabolism, Inborn Errors; Phenylalanine; Serotonin | 1999 |
A review of recent advances on the regulation of pigmentation in the human epidermis.
Topics: Albinism, Oculocutaneous; alpha-MSH; Biopterins; Dihydroxyphenylalanine; Enzyme Activation; Epidermis; Humans; Hydrogen Peroxide; Hydrogen-Ion Concentration; Intramolecular Oxidoreductases; Keratinocytes; Melanocytes; Melanosomes; Membrane Glycoproteins; Membrane Proteins; Monophenol Monooxygenase; Oxidative Stress; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Pro-Opiomelanocortin; Proteins; Racial Groups; Recombinant Fusion Proteins; Skin Pigmentation; Transfection; Tyrosine; Tyrosine 3-Monooxygenase; Vitiligo | 1999 |
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Biopterins; Humans; Molecular Sequence Data; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation | 2001 |
Disorders of tetrahydrobiopterin metabolism and their treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Humans; Phenylalanine | 2002 |
BH4-sensitive hyperphenylalaninemia: new case and review of literature.
Topics: Biopterins; Humans; Infant; Male; Phenylalanine; Phenylketonurias | 2003 |
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Biopterins; Genotype; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
Regulation of tetrahydrobiopterin synthesis and bioavailability in endothelial cells.
Topics: Animals; Biopterins; Cytokines; Endothelial Cells; Estrogens; Gene Expression Regulation; Glucocorticoids; GTP Cyclohydrolase; Humans; Hydrogen-Ion Concentration; Models, Biological; Nitric Oxide; Oxygen; Phenylalanine | 2004 |
Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.
Topics: Animals; Biopterins; Clinical Trials as Topic; Genotype; Humans; Phenylalanine; Phenylketonurias | 2008 |
Chronic immune stimulation correlates with reduced phenylalanine turnover.
Topics: Animals; Biogenic Monoamines; Biopterins; Homocysteine; Humans; Immune System; Inflammation; Interferon-gamma; Oxidative Stress; Phenylalanine | 2008 |
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia.
Topics: Biopterins; Dose-Response Relationship, Drug; Half-Life; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2009 |
Sapropterin: a new therapeutic agent for phenylketonuria.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2009 |
[Phenylketonuria--toward a better carry-over care].
Topics: Adolescent; Adult; Amino Acids, Neutral; Biopterins; Continuity of Patient Care; Diet Therapy; Female; Humans; Infant, Newborn; Insurance, Life; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors; Young Adult | 2010 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias | 2010 |
Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria.
Topics: Administration, Oral; Biopterins; Evidence-Based Medicine; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tablets; Treatment Outcome | 2010 |
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?
Topics: Biopterins; Clinical Protocols; Feeding Behavior; Humans; Phenylalanine; Phenylketonurias | 2011 |
Tetrahydrobiopterin: biochemistry and pathophysiology.
Topics: Animals; Biopterins; Humans; Hypertension; Nitric Oxide Synthase; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2011 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2012 |
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Topics: Biopterins; Humans; Patient Selection; Phenylalanine; Phenylketonurias | 2013 |
Phenylalanine hydroxylase: function, structure, and regulation.
Topics: Animals; Biopterins; Humans; Kinetics; Melanins; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Folding | 2013 |
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Topics: Adult; Age Factors; Biopterins; Diet; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; PubMed | 2013 |
Advances in the nutritional and pharmacological management of phenylketonuria.
Topics: Amino Acids; Biopterins; Bone and Bones; Caseins; Dietary Supplements; Humans; Milk Proteins; Mutation; Peptide Fragments; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic; Tyrosine; Whey Proteins | 2014 |
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Topics: Biopterins; Databases, Genetic; Genetic Association Studies; Genetic Testing; Genotype; Humans; Hydrolysis; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2014 |
Sapropterin dihydrochloride for phenylketonuria.
Topics: Adult; Biopterins; Child; Child, Preschool; Humans; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic | 2015 |
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
Topics: Biopterins; Delphi Technique; Disease Management; Europe; Humans; Phenylalanine; Phenylketonurias | 2017 |
New protein structures provide an updated understanding of phenylketonuria.
Topics: Allosteric Regulation; Biopterins; Genotype; Humans; Mutation; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Protein Structure, Tertiary | 2017 |
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Topics: Biopterins; Disease Management; Genetic Therapy; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2018 |
Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta-analysis of randomized controlled trials.
Topics: Biopterins; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Randomized Controlled Trials as Topic; Treatment Outcome | 2019 |
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
Topics: Biopterins; Cognition; Humans; Infant, Newborn; Neonatal Screening; Oxidative Stress; Phenylalanine; Phenylketonurias; White Matter | 2020 |
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias; Quality of Life | 2022 |
29 trial(s) available for phenylalanine and sapropterin
| Article | Year |
|---|---|
[Metabolic changes in aromatic amino acids and monoamines in infantile autism and development of new treatment related to the finding].
Topics: 5-Hydroxytryptophan; Amino Acids; Autistic Disorder; Biogenic Monoamines; Biopterins; Carbon Isotopes; Child; Child, Preschool; Clinical Trials as Topic; Deuterium; Double-Blind Method; Humans; Levodopa; Phenylalanine; Tryptophan | 1989 |
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Molecular Conformation; Mutation, Missense; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies | 2002 |
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biopterins; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Child, Preschool; Female; Genotype; Humans; Infant; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2004 |
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Pregnancy | 2004 |
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Dose-Response Relationship, Drug; Humans; Infant; Los Angeles; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Texas; Tyrosine | 2005 |
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
Topics: Adolescent; Adult; Biopterins; Child; Double-Blind Method; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Treatment Outcome | 2007 |
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child; Europe; Female; Humans; Male; Middle Aged; North America; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome; Up-Regulation | 2007 |
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Drug Tolerance; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Safety; Young Adult | 2008 |
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Topics: Administration, Oral; Adolescent; Adult; Biological Availability; Biopterins; Body Weight; Child; Creatinine; Dose-Response Relationship, Drug; Europe; Female; Follow-Up Studies; Half-Life; Humans; Male; Metabolic Clearance Rate; Models, Biological; Phenylalanine; Phenylketonurias; United States; Young Adult | 2008 |
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Topics: Algorithms; Biopterins; Child; Child, Preschool; Dietary Supplements; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Phenylalanine; Phenylketonurias | 2009 |
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.
Topics: Administration, Oral; Adult; Biopterins; Cross-Over Studies; Diet; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Models, Statistical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult | 2009 |
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2010 |
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
Topics: Biopterins; Child; Child, Preschool; Dietary Proteins; Drug Tolerance; Eating; Female; Follow-Up Studies; Food, Formulated; Humans; Male; Nutritional Status; Phenylalanine; Phenylketonurias | 2010 |
The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Dose-Response Relationship, Drug; Female; Food, Formulated; Humans; Male; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prospective Studies; Reproducibility of Results; Young Adult | 2011 |
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Middle Aged; Phenylalanine; Phenylketonurias | 2011 |
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.
Topics: Adolescent; Adult; Biomarkers, Pharmacological; Biopterins; Child; Decision Support Techniques; Female; Food, Formulated; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2011 |
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Topics: Adult; Alleles; Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Double-Blind Method; Enzyme Activation; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Quality of Life; Surveys and Questionnaires | 2012 |
Recommendations for the use of sapropterin in phenylketonuria.
Topics: Biopterins; Child, Preschool; Diet; Humans; Monitoring, Physiologic; North America; Phenylalanine; Phenylketonurias | 2012 |
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
Topics: Biopterins; Child; Child Development; Child, Preschool; Cognition; Disease Progression; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Prospective Studies; Time Factors; Treatment Outcome | 2015 |
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Topics: Adolescent; Adult; Attention Deficit Disorder with Hyperactivity; Biopterins; Child; Dose-Response Relationship, Drug; Double-Blind Method; Executive Function; Female; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia].
Topics: Adolescent; Biopterins; Child; Child, Preschool; Coenzymes; Dihydropteridine Reductase; Drug Monitoring; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index; Treatment Outcome | 2014 |
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Drug Administration Schedule; Female; Genotype; Humans; Male; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Topics: Algorithms; Biopterins; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2017 |
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
Topics: Adult; Biopterins; Case-Control Studies; Diet; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2017 |
Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial.
Topics: Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Iran; Male; Phenylalanine; Phenylketonurias; Prognosis | 2019 |
Does the 48-hour BH4 loading test miss responsive PKU patients?
Topics: Adolescent; Adult; Biopterins; Child; Diagnostic Tests, Routine; Female; Genotype; Humans; Male; Middle Aged; Mutation; Phenylalanine; Phenylketonurias; Time Factors | 2020 |
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.
Topics: Adult; Biopterins; Brain; Child; Child, Preschool; Dried Blood Spot Testing; Female; Humans; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 2021 |
PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study.
Topics: Adolescent; Adult; Biopterins; Cross-Over Studies; Female; Humans; Male; Phenylalanine; Phenylketonurias; Pterins; Young Adult | 2022 |
271 other study(ies) available for phenylalanine and sapropterin
| Article | Year |
|---|---|
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.
Topics: Biopterins; Female; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines | 1978 |
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child, Preschool; Dihydropteridine Reductase; DNA Mutational Analysis; Erythrocytes; Female; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Pterins; Skin | 1992 |
[Measurement of dihydropteridine reductase activity in dried blood eluates: physiological and pathological implications].
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Clinical Enzyme Tests; Dihydropteridine Reductase; Humans; Infant; Infant, Newborn; Metabolic Diseases; Phenylalanine | 1992 |
[The metabolic basis of the hyperphenylalaninemias and tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; DNA; Humans; Hydrolases; Phenylalanine; Phenylalanine Hydroxylase; Polymorphism, Restriction Fragment Length; Tyrosine; Tyrosine Transaminase | 1992 |
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.
Topics: Biopterins; Chromatography, High Pressure Liquid; Diagnosis, Differential; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Manganese; Manganese Compounds; Neonatal Screening; Oxides; Paper; Phenylalanine; Phenylketonurias; Pterins | 1992 |
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.
Topics: Biopterins; Female; Humans; Hydro-Lyases; Infant, Newborn; Kinetics; Phenylalanine; Pteridines; Pterins | 1992 |
Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin.
Topics: Alcohol Oxidoreductases; Biopterins; Brain Diseases, Metabolic; Dose-Response Relationship, Drug; Female; Humans; Infant; Infant, Newborn; Male; Neopterin; Phenylalanine; Phosphorus-Oxygen Lyases | 1992 |
The hydroxylation of phenylalanine and tyrosine by tyrosine hydroxylase from cultured pheochromocytoma cells.
Topics: Animals; Biopterins; Catalysis; Dihydroxyphenylalanine; Electrophoresis, Polyacrylamide Gel; Hydrogen Peroxide; Hydroxylation; Kinetics; Phenylalanine; Pheochromocytoma; Rats; Tumor Cells, Cultured; Tyrosine; Tyrosine 3-Monooxygenase | 1991 |
Phenylalanine-induced phosphorylation and activation of rat hepatic phenylalanine hydroxylase in vivo.
Topics: Animals; Autoradiography; Biopterins; Electrophoresis, Polyacrylamide Gel; Enzyme Activation; Glucagon; Liver; Organophosphorus Compounds; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Rats | 1992 |
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Topics: Administration, Oral; Alcohol Oxidoreductases; Biopterins; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases | 1991 |
Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.
Topics: Belgium; Biopterins; Czechoslovakia; Diagnosis, Differential; Dihydropteridine Reductase; France; Humans; Infant, Newborn; Liver; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Portugal; Prospective Studies; Pteridines; Retrospective Studies | 1991 |
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Infant; Male; Nervous System Diseases; Phenylalanine; Phosphorus-Oxygen Lyases; Saudi Arabia | 1991 |
7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase.
Topics: Animals; Biopterins; Hydrogen Peroxide; Hydroxylation; Kinetics; Liver; NAD; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Tyrosine | 1991 |
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
Topics: Adrenal Gland Neoplasms; Biopterins; Catecholamines; Child; Coenzymes; Female; Humans; Neuroblastoma; Phenylalanine; Phenylketonurias; Serotonin | 1990 |
Functional analysis of the effect of monoclonal antibodies on monkey liver phenylalanine hydroxylase.
Topics: Animals; Antibodies, Monoclonal; Biopterins; Epitopes; Haplorhini; Hybridomas; Ligands; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Rats; Species Specificity | 1986 |
Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms.
Topics: Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Circadian Rhythm; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Neopterin; Phenylalanine | 1987 |
[Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)].
Topics: Alcohol Oxidoreductases; Biopterins; Diagnosis, Differential; Germany, West; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phosphorus-Oxygen Lyases | 1989 |
Evidence for the formation of the 4a-carbinolamine during the tyrosine-dependent oxidation of tetrahydrobiopterin by rat liver phenylalanine hydroxylase.
Topics: Animals; Biopterins; Hydrogen-Ion Concentration; Kinetics; Liver; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Rats; Spectrophotometry, Ultraviolet; Tyrosine | 1989 |
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Topics: Antineoplastic Agents; Biopterins; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Precursor Cell Lymphoblastic Leukemia-Lymphoma | 1989 |
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Topics: Biopterins; Humans; Infant, Newborn; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1987 |
Interaction with a monoclonal antibody alters the expression of co-operativity by phenylalanine hydroxylase from rat liver.
Topics: Animals; Antibodies, Monoclonal; Binding Sites; Biopterins; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Rats; Rats, Inbred Strains; Structure-Activity Relationship | 1989 |
Modulation by pterins of the phosphorylation and phenylalanine activation of phenylalanine 4-mono-oxygenase.
Topics: Binding Sites; Biopterins; Cyclic AMP; Enzyme Activation; Hydroxylation; Kinetics; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Protein Conformation | 1987 |
A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency.
Topics: Animals; Biopterins; Brain; Catecholamines; Disease Models, Animal; Dose-Response Relationship, Drug; Hypoxanthines; Liver; Mice; Mice, Inbred BALB C; Phenylalanine; Pteridines | 1986 |
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Topics: Biopterins; Child, Preschool; Dihydropteridine Reductase; Female; Fibroblasts; Humans; Male; Mutation; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias | 1986 |
A new variant of biopterin deficiency.
Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Phenylalanine | 1988 |
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pterins | 1988 |
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
Topics: Alcohol Oxidoreductases; Biopterins; Child, Preschool; Female; Heterozygote; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins | 1987 |
Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity.
Topics: Aminohydrolases; Animals; Biopterins; Genotype; GTP Cyclohydrolase; Liver; Mice; Mice, Mutant Strains; Mutation; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase | 1988 |
Hyperphenylalaninemia in the hph-1 mouse mutant.
Topics: Aminohydrolases; Animals; Biopterins; Disease Models, Animal; GTP Cyclohydrolase; Half-Life; Male; Metabolic Clearance Rate; Mice; Mice, Mutant Strains; Phenylalanine; Tyrosine | 1988 |
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.
Topics: Biogenic Amines; Biopterins; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neopterin; Phenylalanine | 1988 |
[Trial of indirect screening of tetrahydrobiopterin deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
[Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency].
Topics: Biopterins; Humans; Infant; Infant, Newborn; Mass Screening; Neopterin; Phenylalanine | 1986 |
Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.
Topics: Aminohydrolases; Biopterins; GTP Cyclohydrolase; Humans; Infant, Newborn; Leukocyte Count; Liver; Male; Neopterin; Phenylalanine; Pteridines; Pterins; T-Lymphocytes | 1985 |
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Drug Combinations; Female; Humans; Infant, Newborn; Levodopa; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine | 1985 |
Hyperphenylalaninaemia caused by defects in biopterin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biogenic Amines; Biopterins; Brain; Humans; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Differential diagnosis of tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biogenic Amines; Biopterins; Brain; Folic Acid; Folic Acid Deficiency; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines | 1985 |
Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency.
Topics: Administration, Oral; Biopterins; Child; Female; Humans; Neopterin; Phenylalanine; Pteridines; Tyrosine | 1985 |
Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Liver; Neopterin; Phenylalanine; Pterins | 1985 |
Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Humans; Leukocytes; Male; Phenylalanine | 1985 |
Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Infant, Newborn; Neopterin; Phenylalanine; Remission, Spontaneous | 1985 |
Differential diagnosis and treatment of hyperphenylalaninaemia.
Topics: Acid-Base Equilibrium; Amino Acids; Biopterins; Diagnosis, Differential; Galactosemias; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias | 1985 |
Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin.
Topics: Biopterins; Blood Glucose; Child; Dose-Response Relationship, Drug; Growth Hormone; Humans; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Prolactin; Pteridines; Pterins | 1983 |
Biopterin synthesis defects: problems in diagnosis.
Topics: Biopterins; Diet; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Neurotransmitter Agents; Phenylalanine; Pteridines | 1984 |
Tetrahydrobiopterin metabolism in Down's syndrome and in non-Down's syndrome mental retardation.
Topics: Adult; Aged; Biopterins; Down Syndrome; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Pteridines | 1982 |
[Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].
Topics: Alcohol Oxidoreductases; Biopterins; Child; Chromatography, High Pressure Liquid; Humans; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
Topics: Alcohol Oxidoreductases; Biopsy, Needle; Biopterins; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Liver; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
[Partial deficiency of tetrahydrobiopterin].
Topics: Adolescent; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Female; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1983 |
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Topics: Biopterins; Female; Fibroblasts; Humans; Infant; Lymphocytes; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine | 1984 |
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
Topics: Biopterins; Dihydropteridine Reductase; Erythrocytes; Female; Follow-Up Studies; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine | 1984 |
Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Electroencephalography; Female; Humans; Neopterin; Phenylalanine; Pteridines | 1984 |
The effect of ligands of phenylalanine 4-monooxygenase on the cAMP-dependent phosphorylation of the enzyme.
Topics: Adenosine Diphosphate; Animals; Biopterins; Kinetics; Magnesium; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Protein Kinases; Pteridines; Rats; Time Factors | 1984 |
Spectroscopic investigation of ligand interaction with hepatic phenylalanine hydroxylase: evidence for a conformational change associated with activation.
Topics: Animals; Biopterins; Circular Dichroism; Enzyme Activation; Liver; Lysophosphatidylcholines; Phenylalanine; Phenylalanine Hydroxylase; Protein Conformation; Pterins; Rats; Spectrometry, Fluorescence; Spectrophotometry, Ultraviolet | 1984 |
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Humans; Infant, Newborn; Methods; Phenylalanine; Phenylketonurias; Pteridines; Specimen Handling | 1984 |
Ligand effects on the phosphorylation state of hepatic phenylalanine hydroxylase.
Topics: Animals; Biopterins; Enzyme Activation; Kinetics; Ligands; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Protein Kinases; Pteridines; Rats; Rats, Inbred Strains | 1984 |
The interaction of aromatic amino acids with rat liver phenylalanine hydroxylase.
Topics: Amino Acids; Animals; Biopterins; Kinetics; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Rats; Rats, Inbred Strains; Stereoisomerism; Tryptophan | 1984 |
Current status of biopterin screening.
Topics: Biopterins; Chromatography, High Pressure Liquid; Humans; Infant; Infant, Newborn; Mass Screening; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1984 |
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
Topics: Adolescent; Aminohydrolases; Biopterins; Child; Child, Preschool; Dopamine; Female; GTP Cyclohydrolase; Humans; Infant; Liver; Metabolism, Inborn Errors; Muscle Hypotonia; Neopterin; Phenylalanine; Pteridines; Serotonin | 1984 |
A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin.
Topics: Biopterins; Humans; Infant; Male; Phenylalanine; Pteridines | 1982 |
Ligand effects on the limited proteolysis of phenylalanine hydroxylase: evidence for multiple conformational states.
Topics: Animals; Binding Sites; Biopterins; Chymotrypsin; Kinetics; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Protein Conformation; Rats; Rats, Inbred Strains | 1983 |
[The phenylalanine hydroxylase system].
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.
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.
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.
Topics: Biopterins; Brain; Child; Child, Preschool; Female; Humans; Male; Neopterin; Phenylalanine; Phenylketonurias; Pteridines; Pterins | 1982 |
Screening for medical intervention: the PKU experience.
Topics: Biopterins; Female; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1982 |
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).
Topics: Biopterins; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Portugal; Pterins | 1993 |
Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli.
Topics: Acrylamide; Acrylamides; Base Sequence; Biopterins; DNA, Complementary; Escherichia coli; Humans; In Vitro Techniques; Kinetics; Molecular Sequence Data; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Polymerase Chain Reaction; Recombinant Fusion Proteins; Spectrometry, Fluorescence; Tryptophan | 1995 |
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diet; Electrochemistry; Female; Humans; Male; Phenylalanine | 1993 |
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
Topics: Alcohol Oxidoreductases; Base Sequence; Biopterins; Cells, Cultured; DNA Primers; Humans; Infant; Male; Molecular Sequence Data; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 1994 |
Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells.
Topics: Animals; Binding, Competitive; Biopterins; Cells, Cultured; Enzyme Activation; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Pterins; Rats; Water | 1995 |
Regulation of rat liver phenylalanine hydroxylase. III. Control of catalysis by (6R)-tetrahydrobiopterin and phenylalanine.
Topics: Animals; Biopterins; Enzyme Activation; Liver; Phenylalanine; Phenylalanine Hydroxylase; Rats; Rats, Sprague-Dawley | 1994 |
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
Topics: Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Infant; Phenylalanine; Phenylketonurias | 1994 |
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Brazil; Child; Child, Preschool; Humans; Neopterin; Phenylalanine; White People | 1994 |
Recovery from depression after electroconvulsive therapy is accompanied by evidence of increased tetrahydrobiopterin-dependent hydroxylation.
Topics: Aged; Biopterins; Depressive Disorder; Electroconvulsive Therapy; Energy Intake; Humans; Hydroxylation; Middle Aged; Phenylalanine | 1994 |
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Cells, Cultured; Fibroblasts; Humans; Infant, Newborn; Interferon-gamma; Phenylalanine; Skin; Tumor Necrosis Factor-alpha | 1993 |
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Biopterins; Cloning, Molecular; DNA; DNA, Complementary; Escherichia coli; Female; Fibroblasts; Gene Expression; Humans; Infant, Newborn; Male; Molecular Sequence Data; Oligonucleotide Probes; Phenylalanine; Phosphorus-Oxygen Lyases; Point Mutation; Polymerase Chain Reaction; Reference Values | 1994 |
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
Topics: Alcohol Oxidoreductases; Biopterins; Erythrocytes; Female; Half-Life; Humans; Kinetics; Male; Neopterin; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins | 1993 |
Tetrahydrobiopterin deficiency and an international database of patients.
Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries | 1993 |
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency.
Topics: Adrenal Glands; Animals; Biopterins; Corpus Striatum; Dopamine; Epinephrine; Female; Fetal Blood; Guinea Pigs; Hypoxanthines; Infusions, Intravenous; Liver; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1993 |
Experimental research on a new treatment for maternal phenylketonuria(PKU).
Topics: Animals; Biopterins; Brain; Disease Models, Animal; Female; Fetus; Guinea Pigs; Infusions, Intravenous; Liver; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1993 |
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors | 1993 |
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Chemical Analysis; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 1993 |
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Catalysis; Child; Child, Preschool; Female; Humans; Hydroxylation; Infant; Male; Phenylalanine; Phenylketonurias | 1993 |
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
Topics: Animals; Biological Factors; Biopterins; Chromatography, Gel; Feedback; GTP Cyclohydrolase; Humans; In Vitro Techniques; Liver; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Rats; Recombinant Proteins; Tissue Extracts | 1993 |
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.
Topics: Alleles; Biopterins; Egypt; Electrophoresis, Polyacrylamide Gel; Genetic Testing; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Sequence Analysis | 1996 |
Purification and cloning of the GTP cyclohydrolase I feedback regulatory protein, GFRP.
Topics: Amino Acid Sequence; Animals; Base Sequence; Biopterins; Cloning, Molecular; DNA Primers; Feedback; Gene Expression; GTP Cyclohydrolase; Intracellular Signaling Peptides and Proteins; Liver; Male; Molecular Sequence Data; Phenylalanine; Proteins; Rats; Rats, Sprague-Dawley; RNA, Messenger | 1996 |
[Malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency].
Topics: Antioxidants; Biopterins; Female; Humans; Infant; Male; Phenylalanine | 1996 |
Competition for tetrahydrobiopterin between phenylalanine hydroxylase and nitric oxide synthase in rat liver.
Topics: Animals; Binding, Competitive; Biopterins; Liver; Male; Nitric Oxide Synthase; Phenylalanine; Rats; Rats, Sprague-Dawley | 1996 |
Recombinant human phenylalanine hydroxylase: novel regulatory and structural properties.
Topics: Animals; Base Sequence; Biopterins; DNA Primers; Enzyme Activation; Enzyme Inhibitors; Escherichia coli; Humans; In Vitro Techniques; Kinetics; Lysophosphatidylcholines; Molecular Sequence Data; Molecular Structure; Phenylalanine; Phenylalanine Hydroxylase; Plasmids; Protein Conformation; Pterins; Rats; Recombinant Proteins | 1996 |
International database of tetrahydrobiopterin deficiencies.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Computer Communication Networks; Data Collection; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Pterins; Software; Terminology as Topic | 1996 |
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
Topics: Alcohol Oxidoreductases; beta-Galactosidase; Biopterins; Blotting, Western; Cytokines; Fibroblasts; Gene Transfer Techniques; Genes, Reporter; Genetic Diseases, Inborn; Genetic Therapy; Genetic Vectors; Humans; Neopterin; Phenylalanine; Phosphorus-Oxygen Lyases; Retroviridae; Transfection | 1996 |
The role of phenylalanine in structure-function relationships of phenylalanine hydroxylase revealed by radiation target analysis.
Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; Dose-Response Relationship, Radiation; Enzyme Activation; Liver; Macromolecular Substances; Phenylalanine; Phenylalanine Hydroxylase; Rats | 1997 |
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior | 1997 |
Microtiter plate assay for biopterin using cryopreserved Crithidia fasciculata.
Topics: Animals; Biological Assay; Biopterins; Crithidia fasciculata; Cryoprotective Agents; Humans; Molecular Structure; Phenylalanine; Phenylketonurias; Reference Values; Reproducibility of Results; Sensitivity and Specificity | 1997 |
Genetic disorders involving recycling and formation of tetrahydrobiopterin.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Incidence; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1998 |
Expression and characterization of the catalytic domain of human phenylalanine hydroxylase.
Topics: Binding Sites; Biopterins; Catalysis; Chromatography, High Pressure Liquid; Copper; Enzyme Activation; Escherichia coli; Ferrous Compounds; Humans; Iron; Kinetics; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins; Tyrosine | 1997 |
In vivo evidence for compromised phenylalanine metabolism in vitiligo.
Topics: Adolescent; Adult; Biopterins; Cells, Cultured; Female; Gene Expression; GTP Cyclohydrolase; Humans; Hydro-Lyases; Kinetics; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; RNA, Messenger; Skin; Spectrum Analysis, Raman; Tyrosine; Vitiligo | 1998 |
Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin.
Topics: Animals; Biopterins; COS Cells; Culture Media; Fibroblasts; Gene Expression Regulation, Enzymologic; Gene Expression Regulation, Viral; Gene Transfer Techniques; GTP Cyclohydrolase; Humans; Mutation; Neopterin; Neurotransmitter Agents; Phenylalanine; Phosphorus-Oxygen Lyases; Pterins; Retroviridae; Skin | 1998 |
Decameric GTP cyclohydrolase I forms complexes with two pentameric GTP cyclohydrolase I feedback regulatory proteins in the presence of phenylalanine or of a combination of tetrahydrobiopterin and GTP.
Topics: Animals; Biopterins; Chromatography, Gel; Cross-Linking Reagents; Dimethyl Suberimidate; GTP Cyclohydrolase; Guanosine Triphosphate; Intracellular Signaling Peptides and Proteins; Phenylalanine; Protein Binding; Protein Conformation; Proteins; Rats; Recombinant Proteins | 1998 |
Perturbed epidermal pterin metabolism in Hermansky-Pudlak syndrome.
Topics: Adolescent; Adult; Albinism, Oculocutaneous; Biopterins; Case-Control Studies; Cells, Cultured; Enzyme Inhibitors; Epidermis; Female; GTP Cyclohydrolase; Humans; Hydro-Lyases; Intracellular Signaling Peptides and Proteins; Keratinocytes; Male; Melanocytes; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Proteins; Pterins; RNA, Messenger; Skin Pigmentation | 1998 |
Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle.
Topics: Animals; Biopterins; Creatine Kinase; Genetic Therapy; Injections, Intraperitoneal; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Muscle, Skeletal; Myocardium; Phenylalanine; Phenylalanine Hydroxylase; Polymerase Chain Reaction; Time Factors; Transcription, Genetic | 1998 |
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Topics: Administration, Oral; Biopterins; Child; Child, Preschool; Humans; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1999 |
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Administration, Oral; Adolescent; Antioxidants; Biopterins; Child; Dihydropteridine Reductase; DNA Mutational Analysis; Drug Monitoring; Female; Humans; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1999 |
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Topics: Amino Acid Sequence; Biopterins; DNA Mutational Analysis; Dystonic Disorders; Frameshift Mutation; Gene Expression Regulation; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Molecular Sequence Data; Neuroblastoma; Phenylalanine; Point Mutation; Recombinant Fusion Proteins; Tumor Cells, Cultured | 1999 |
Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase.
Topics: Binding Sites; Biopterins; Catalysis; Catecholamines; Crystallography, X-Ray; Dimerization; Humans; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Pterins | 2000 |
Aromatic residues and neighboring Arg414 in the (6R)-5,6,7, 8-tetrahydro-L-biopterin binding site of full-length neuronal nitric-oxide synthase are crucial in catalysis and heme reduction with NADPH.
Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Binding Sites; Biopterins; Catalysis; Dimerization; Drosophila; Glutamine; Heme; Humans; Hydrogen Bonding; Leucine; Mice; Models, Molecular; Molecular Sequence Data; NADP; Nitric Oxide Synthase; Nitric Oxide Synthase Type I; Oxidation-Reduction; Phenylalanine; Rats; Spectrophotometry, Atomic; Structure-Activity Relationship; Tryptophan | 2000 |
Studies on the genotype-phenotype relation in the hph-1 mouse mutant deficient in guanosine triphosphate (GTP) cyclohydrolase I activity.
Topics: Animals; Base Sequence; Biopterins; Catecholamines; Genotype; GTP Cyclohydrolase; Mice; Mice, Mutant Strains; Phenotype; Phenylalanine; RNA, Messenger | 2000 |
Essential role of the N-terminal autoregulatory sequence in the regulation of phenylalanine hydroxylase.
Topics: Binding Sites; Biopterins; Chymotrypsin; Enzyme Activation; Models, Molecular; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Protein Conformation; Recombinant Proteins; Sequence Deletion | 2001 |
'Mommy, why can't I have a hamburger like the other kids?'.
Topics: Adolescent; Adult; Biopterins; Diet, Protein-Restricted; Female; Genetic Therapy; Humans; Keratinocytes; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Skin Transplantation | 2000 |
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.
Topics: Biopterins; Cell Line; Coculture Techniques; Gene Expression; Genetic Therapy; Genetic Vectors; GTP Cyclohydrolase; Humans; Keratinocytes; Liver; Metabolic Clearance Rate; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retroviridae; Transfection | 2000 |
Ligand binding to the inhibitory and stimulatory GTP cyclohydrolase I/GTP cyclohydrolase I feedback regulatory protein complexes.
Topics: Allosteric Regulation; Binding Sites; Biopterins; Enzyme Activation; Enzyme Inhibitors; GTP Cyclohydrolase; Intracellular Signaling Peptides and Proteins; Phenylalanine; Proteins | 2001 |
Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.
Topics: Amino Acids; Animals; Binding Sites; Biopterins; Kinetics; Mutagenesis, Site-Directed; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Protein Structure, Secondary; Rats; Structure-Activity Relationship | 2000 |
Successful treatment of phenylketonuria with tetrahydrobiopterin.
Topics: Antioxidants; Biopterins; Diet Therapy; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2001 |
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Topics: Adolescent; Alcohol Oxidoreductases; Alleles; Base Sequence; Biopterins; Cells, Cultured; Child; Consanguinity; DNA Mutational Analysis; Dopamine; Female; Fibroblasts; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Mutation, Missense; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Skin; Turkey | 2001 |
Use of surface plasmon resonance for real-time measurements of the global conformational transition in human phenylalanine hydroxylase in response to substrate binding and catalytic activation.
Topics: Biopterins; Catalysis; Enzyme Activation; Enzymes, Immobilized; Humans; Kinetics; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Protein Structure, Quaternary; Recombinant Fusion Proteins; Surface Plasmon Resonance | 2001 |
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
Topics: Alleles; Biopterins; Dihydropteridine Reductase; Dimerization; DNA, Complementary; Genes, Reporter; Heterozygote; Humans; Hydro-Lyases; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Plasmids; Protein Binding; Protein Biosynthesis; Protein Structure, Tertiary; Transcription, Genetic; Two-Hybrid System Techniques | 2001 |
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Topics: Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Kinetics; Mutation; Netherlands; Phenylalanine; Phenylalanine Hydroxylase; Polymorphism, Single-Stranded Conformational; Pterins | 2001 |
Treatable neurotransmitter deficiency in mild phenylketonuria.
Topics: Adolescent; Antioxidants; Biogenic Monoamines; Biopterins; Female; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 2001 |
[Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
Topics: Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA, Complementary; Female; Genetic Testing; Humans; Infant; Male; Mutation, Missense; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 2000 |
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Specimen Collection; Calibration; Colorimetry; False Positive Reactions; Germany; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Reproducibility of Results | 2002 |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Topics: 5-Hydroxytryptophan; Base Sequence; Biopterins; DNA Mutational Analysis; Founder Effect; Humans; Infant, Newborn; Intelligence; Levodopa; Mutation; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Taiwan; Treatment Outcome | 2001 |
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
Topics: Administration, Oral; Biopterins; Dose-Response Relationship, Drug; Drug Administration Schedule; Female; Follow-Up Studies; Humans; Infant; Male; Mutation; Phenylalanine; Phenylketonurias; Severity of Illness Index; Treatment Outcome | 2002 |
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.
Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies | 2002 |
Tetrahydrobiopterin and dietary restriction in mild phenylketonuria.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2002 |
Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism.
Topics: Antiviral Agents; Biopterins; Blotting, Northern; Cells, Cultured; Endothelium, Vascular; Gene Expression Regulation; GTP Cyclohydrolase; Humans; Interferon-gamma; Intracellular Signaling Peptides and Proteins; Phenylalanine; Proteins; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Umbilical Veins | 2003 |
Modeled ligand-protein complexes elucidate the origin of substrate specificity and provide insight into catalytic mechanisms of phenylalanine hydroxylase and tyrosine hydroxylase.
Topics: Amino Acid Sequence; Animals; Biopterins; Catalytic Domain; Dopamine; Humans; Levodopa; Ligands; Models, Molecular; Molecular Sequence Data; Molecular Structure; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Rats; Sequence Alignment; Substrate Specificity; Tyrosine; Tyrosine 3-Monooxygenase | 2003 |
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
Topics: Administration, Oral; Amino Acid Substitution; Biopterins; Child; Drug Administration Schedule; Humans; Infant; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
Tetrahydrobiopterin and mild phenylketonuria.
Topics: Biopterins; Humans; Phenotype; Phenylalanine; Phenylketonurias; Research Design | 2003 |
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
Topics: Biopterins; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2003 |
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
Topics: Adolescent; Amino Acids; Biopterins; Depression; Dietary Supplements; Dose-Response Relationship, Drug; Headache; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Somatotypes | 2003 |
BIOSYNTHESIS OF PHENYLALANINE HYDROXYLASE COFACTOR BY CELL-FREE EXTRACTS OF PSEUDOMONAS SP. (ATCC 11299A).
Topics: Biochemical Phenomena; Biochemistry; Biopterins; Chemistry Techniques, Analytical; Metabolism; Mixed Function Oxygenases; Phenylalanine; Pseudomonas; Pterins; Research | 1964 |
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies.
Topics: B-Lymphocytes; Biopterins; Child; Child, Preschool; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; T-Lymphocytes | 2003 |
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
Topics: Biopterins; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2003 |
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
Topics: Animals; Biopterins; Corpus Striatum; Disease Models, Animal; Dopamine; Dopamine Agents; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Levodopa; Male; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Phenylalanine; Tyrosine | 2004 |
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.
Topics: Biopterins; Circadian Rhythm; Diet; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Quality of Life | 2004 |
Substrate regulation of serotonin and dopamine synthesis in Drosophila.
Topics: Animals; Biopterins; Blotting, Western; Cyclic AMP-Dependent Protein Kinases; Dopamine; Dose-Response Relationship, Drug; Drosophila; Drosophila Proteins; Electrophoresis, Gel, Two-Dimensional; Immunoprecipitation; Iron; Phenylalanine; Phenylalanine Hydroxylase; Phosphorylation; Recombinant Fusion Proteins; Serotonin; Substrate Specificity; Time Factors; Tryptophan; Tryptophan Hydroxylase; Tyrosine | 2004 |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment.
Topics: 5-Hydroxytryptophan; Axons; Biopterins; Brain Damage, Chronic; Cerebral Cortex; Child; Child, Preschool; Combined Modality Therapy; Corpus Callosum; Diffusion Magnetic Resonance Imaging; Dominance, Cerebral; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Levodopa; Male; Neonatal Screening; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Pregnancy | 2004 |
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biopterins; Blotting, Western; Gene Deletion; Gene Expression Regulation, Enzymologic; Genes, Recessive; Heterozygote; Humans; Kinetics; Liver; Mice; Mice, Knockout; Mice, Transgenic; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; RNA, Messenger; Transcription, Genetic | 2004 |
Phenylketonuria detected by the neonatal screening program in Thailand.
Topics: Biopterins; Blood Specimen Collection; Female; Fluorometry; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Program Evaluation; Public Health Administration; Thailand | 2003 |
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
Topics: Animals; Biopterins; Calorimetry; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Recombinant Proteins | 2005 |
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Cerebral Palsy; Child; Developmental Disabilities; Diagnostic Errors; Dopamine Agents; Female; Humans; Levodopa; Movement Disorders; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures | 2005 |
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.
Topics: Biopterins; Body Size; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Treatment Outcome | 2005 |
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
Topics: Amino Acids; Biopterins; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Severity of Illness Index | 2005 |
[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
Topics: Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity | 2005 |
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; New South Wales; Phenylalanine; Phenylketonurias | 2005 |
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Topics: Administration, Oral; Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Plasma biopterin levels and tetrahydrobiopterin responsiveness.
Topics: Biopterins; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Topics: Biopterins; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Genotype; Humans; Infant; Italy; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2005 |
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Dose-Response Relationship, Drug; Female; Humans; Infant, Newborn; Longitudinal Studies; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Weight Gain | 2005 |
Evidence for a tetrahydrobiopterin deficit in schizophrenia.
Topics: Adult; Biopterins; Demography; Female; Gene Expression Regulation, Enzymologic; Genetic Variation; Genotype; GTP Cyclohydrolase; Humans; Intracellular Signaling Peptides and Proteins; Male; Nitric Oxide; Phenylalanine; Proteins; Schizophrenia; Sequence Analysis, DNA | 2005 |
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
Topics: Biopterins; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sensitivity and Specificity | 2005 |
Tetrahydrobiopterin and maternal PKU.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy | 2005 |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors | 2006 |
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.
Topics: Adolescent; Adult; Biopterins; Blood Platelets; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diet; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin; Tryptophan; Tryptophan Hydroxylase | 2005 |
A murine model for human sepiapterin-reductase deficiency.
Topics: Alcohol Oxidoreductases; Animals; Base Sequence; Biopterins; Catecholamines; Disease Models, Animal; DNA Primers; Growth; Humans; Immunohistochemistry; Locomotion; Metabolism, Inborn Errors; Mice; Mice, Knockout; Phenotype; Phenylalanine; Serotonin | 2006 |
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Topics: Amino Acids; Biopterins; Circadian Rhythm; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization | 2006 |
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Genetic Variation; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2006 |
[Study on tetrahydrobiopterin deficiency in Northern Chinese population].
Topics: 5-Hydroxytryptophan; Asian People; Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Humans; Infant; Levodopa; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases | 2006 |
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.
Topics: Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Humans; Infant Formula; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Retrospective Studies; Victoria | 2006 |
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Area Under Curve; Biopterins; Genotype; Humans; Kinetics; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Time Factors | 2006 |
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy.
Topics: Animals; Biopterins; Chromatography, High Pressure Liquid; DNA, Complementary; Female; Genetic Therapy; Hair; Liver; Male; Mice; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sex Factors; Time Factors | 2007 |
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Topics: Biopterins; DNA Mutational Analysis; Genotype; Humans; Infant, Newborn; Mutation; Neonatal Screening; Nitric Oxide Synthase; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Recombinant Fusion Proteins | 2007 |
Response of phenylketonuria to tetrahydrobiopterin.
Topics: Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylketonurias | 2007 |
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
Topics: Biopterins; Child; Humans; Infant, Newborn; Nitric Oxide; Phenylalanine; Phenylketonurias | 2007 |
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
Topics: Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Time Factors | 2007 |
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.
Topics: Adult; Biopterins; Diet, Protein-Restricted; Humans; Infant, Newborn; Mutation; Patient Selection; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Predictive Value of Tests; Severity of Illness Index; Treatment Outcome | 2007 |
Tetrahydrobiopterin for patients with phenylketonuria.
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.
Topics: Adult; Biopterins; Breath Tests; Carbon Isotopes; Drug Combinations; Humans; Male; Middle Aged; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2007 |
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
Topics: Biopterins; Health Planning Guidelines; Humans; Phenylalanine; Phenylketonurias; Treatment Outcome | 2007 |
Is sapropterin treatment suitable for all subjects with phenylketonuria?
Topics: Adolescent; Adult; Biopterins; Clinical Trials, Phase III as Topic; Female; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome | 2008 |
Serum phenylalanine in patients post trauma and with sepsis correlate to neopterin concentrations.
Topics: Adult; Aged; Biopterins; Female; Follow-Up Studies; Humans; Male; Middle Aged; Molecular Structure; Neopterin; Oxidative Stress; Phenylalanine; Phenylalanine Hydroxylase; Reproducibility of Results; Sepsis; Tyrosine; Wounds and Injuries | 2008 |
First drug approved for treatment of phenylketonuria.
Topics: Biopterins; Drug Approval; Humans; Phenylalanine; Phenylketonurias; United States; United States Food and Drug Administration | 2008 |
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.
Topics: Biopterins; Diagnostic Techniques and Procedures; Half-Life; Humans; Infant, Newborn; Models, Theoretical; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors | 2008 |
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
Topics: Biopterins; Genotype; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2008 |
Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.
Topics: Biopterins; Drug Administration Schedule; Half-Life; Humans; Phenylalanine; Phenylketonurias; Time Factors | 2008 |
Recently-approved sapropterin reduces phenylalanine levels.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2008 |
Sapropterin (Kuvan) for phenylketonuria.
Topics: Biopterins; Fees, Pharmaceutical; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2008 |
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
Topics: Administration, Oral; Allosteric Regulation; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Binding Sites; Biopterins; Catalytic Domain; Computer Simulation; Dimerization; Endopeptidase K; Enzyme Stability; Female; Hot Temperature; Humans; Hydrogen Bonding; Hydrolysis; Hydrophobic and Hydrophilic Interactions; Infant, Newborn; Kinetics; Luminescence; Male; Models, Molecular; Motion; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Denaturation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; Protein Subunits; Recombinant Fusion Proteins; Static Electricity | 2008 |
Role of Phe-99 and Trp-196 of sepiapterin reductase from Chlorobium tepidum in the production of L-threo-tetrahydrobiopterin.
Topics: Alcohol Oxidoreductases; Amino Acid Sequence; Biopterins; Chlorobium; Computer Simulation; Enzyme Activation; Enzyme Stability; Models, Chemical; Models, Molecular; Molecular Sequence Data; Phenylalanine; Structure-Activity Relationship; Tryptophan | 2008 |
Effect of BH(4) supplementation on phenylalanine tolerance.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Drug Tolerance; Female; Genotype; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Retrospective Studies; Young Adult | 2009 |
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Female; Gene Frequency; Genotype; Humans; Infant; Male; Mutation; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland; Young Adult | 2009 |
[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].
Topics: Biopterins; Dietary Supplements; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life | 2009 |
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Genotype; Humans; Infant; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Statistics, Nonparametric; Tyrosine; Young Adult | 2010 |
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
Topics: Adolescent; Adult; Biopterins; Child; Denmark; Female; Heterozygote; Homozygote; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2010 |
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Topics: Amino Acid Substitution; Animals; Biopterins; Chlorocebus aethiops; COS Cells; Disease Models, Animal; Humans; Hydroxylation; Kinetics; Mice; Molecular Chaperones; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Protein Folding; Protein Processing, Post-Translational; Protein Structure, Quaternary | 2010 |
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Topics: Adolescent; Biomarkers; Biopterins; Body Weight; Child; Child, Preschool; Combined Modality Therapy; Diet, Protein-Restricted; Drug Dosage Calculations; Follow-Up Studies; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome | 2010 |
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Pteridines | 2010 |
Sapropterin.
Topics: Biopterins; Humans; Phenylalanine; Phenylketonurias | 2010 |
Challenges and pitfalls in the management of phenylketonuria.
Topics: Biopterins; Brain; Cognition Disorders; Consensus; Growth Disorders; Humans; Infant, Newborn; Neonatal Screening; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Treatment Failure | 2010 |
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
Topics: Allosteric Regulation; Biopterins; Coenzymes; Enzyme Activation; Fluorescence; Humans; Kinetics; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2010 |
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Topics: Animals; Biopterins; Breath Tests; Disease Models, Animal; Dose-Response Relationship, Drug; Heterozygote; Mice; Mice, Mutant Strains; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Tyrosine | 2010 |
Sapropterin. Phenylketonuria: for a minority of patients.
Topics: Biopterins; Clinical Trials as Topic; Humans; Phenylalanine; Phenylketonurias | 2010 |
Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.
Topics: Biopterins; Child, Preschool; Female; Humans; Infant; Male; Patient Selection; Phenylalanine; Phenylketonurias; Treatment Outcome | 2011 |
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Topics: Alleles; Biopterins; Dose-Response Relationship, Drug; Female; Genetic Association Studies; Genetic Variation; Genotype; Humans; Infant, Newborn; Male; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Turkey | 2011 |
Phenotyping and treatment of phenylketonuria.
Topics: Biopterins; Dietary Supplements; Humans; Phenotype; Phenylalanine; Phenylketonurias | 2011 |
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Topics: Base Sequence; Biopterins; Chromatography, High Pressure Liquid; DNA Primers; Genotype; Humans; Japan; Molecular Sequence Data; Mutation, Missense; Nucleic Acid Amplification Techniques; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sequence Analysis, DNA | 2011 |
Tetrahydrobiopterin and phenylketonuria.
Topics: Biopterins; Humans; Nitric Oxide; Phenylalanine; Phenylketonurias | 2011 |
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
Topics: Biopterins; Coenzymes; Enzyme Activation; Genotype; HEK293 Cells; Humans; Kinetics; Molecular Chaperones; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2011 |
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria.
Topics: Adolescent; Biopterins; Child; Female; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
Autophagy induction by tetrahydrobiopterin deficiency.
Topics: Alcohol Oxidoreductases; Animals; Autophagy; Biopterins; Child; Down-Regulation; Female; Humans; Infant; Liver; Male; Mechanistic Target of Rapamycin Complex 1; Mice; Monomeric GTP-Binding Proteins; Multiprotein Complexes; Neuropeptides; NIH 3T3 Cells; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Proteins; Ras Homolog Enriched in Brain Protein; TOR Serine-Threonine Kinases; Tyrosine | 2011 |
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Demography; Diagnostic Techniques and Procedures; Female; Humans; Infant; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors | 2011 |
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biopterins; Brazil; Child; Diagnostic Techniques and Procedures; Diet; Feeding Behavior; Female; Genotype; Humans; Male; Phenotype; Phenylalanine; Phenylketonurias; Young Adult | 2011 |
Novel pharmacological chaperones that correct phenylketonuria in mice.
Topics: Animals; Binding Sites; Biopterins; Catalytic Domain; Cell Line, Tumor; Cell Survival; Drug Discovery; Drug Evaluation, Preclinical; Enzyme Stability; Humans; Hydantoins; Mice; Oxidation-Reduction; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Small Molecule Libraries; Uracil | 2012 |
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Topics: Animals; Biopterins; Brain; Cells, Cultured; Chlorocebus aethiops; Chromatography, Liquid; COS Cells; Humans; Isotope Labeling; Kidney; Liver; Mice; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry; Tyrosine | 2012 |
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.
Topics: Biopterins; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Infant, Newborn; Nitric Oxide; Patient Selection; Phenylalanine; Phenylketonurias; Practice Guidelines as Topic; Prognosis | 2012 |
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
Topics: Age Factors; Biopterins; Child, Preschool; Female; France; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Treatment Outcome | 2012 |
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
Topics: Biopterins; Cohort Studies; Diet; Diet Therapy; Female; Genetic Variation; Humans; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polycyclic Aromatic Hydrocarbons | 2012 |
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Topics: Animals; Biopterins; Disease Models, Animal; Female; Hydroxylation; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2012 |
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Topics: Biopterins; Child; Child, Preschool; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Treatment Outcome | 2012 |
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Humans; Infant; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome; Young Adult | 2012 |
New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pilot Projects; Reproducibility of Results; Spain; Treatment Outcome; Young Adult | 2012 |
A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Case-Control Studies; Caudate Nucleus; Child; Cognition; Dopamine; Female; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Nucleus Accumbens; Organ Size; Phenylalanine; Phenylketonurias; Putamen | 2012 |
Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.
Topics: Adolescent; Biomarkers, Pharmacological; Biopterins; Child; Child, Preschool; Disease Management; Drug Administration Schedule; Female; Humans; Long-Term Care; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Tyrosine | 2012 |
Use of sapropterin in the management of phenylketonuria: seven case reports.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Male; Medication Adherence; Phenylalanine; Phenylketonurias; Quality of Life; Treatment Outcome; Young Adult | 2013 |
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine | 2013 |
Role of the phenylalanine-hydroxylating system in aromatic substance degradation and lipid metabolism in the oleaginous fungus Mortierella alpina.
Topics: Biopterins; Culture Media; Enzyme Activation; Escherichia coli; Fenclonine; Fungal Proteins; Genes, Fungal; Hydro-Lyases; Hydroxylation; Lipid Metabolism; Mortierella; Phenylalanine; Phenylalanine Hydroxylase; Species Specificity | 2013 |
Albino (al) is a tetrahydrobiopterin (BH4)-deficient mutant of the silkworm Bombyx mori.
Topics: Animals; Biopterins; Bombyx; Dopamine; Female; Insect Proteins; Larva; Male; Mutation; Phenylalanine; Phosphorus-Oxygen Lyases | 2013 |
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Topics: Biopterins; DNA Mutational Analysis; GTP Cyclohydrolase; Humans; Infant, Newborn; Japan; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Point Mutation; Time Factors; Treatment Outcome | 2014 |
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet; Europe; Follow-Up Studies; Genotype; Humans; Infant; Middle Aged; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Retrospective Studies; Surveys and Questionnaires; Treatment Outcome; Young Adult | 2013 |
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.
Topics: Biopterins; Body Composition; Body Height; Body Mass Index; Body Weight; Diet; Follow-Up Studies; Humans; Phenylalanine; Phenylketonurias | 2013 |
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Brain; Case-Control Studies; Child; Diffusion Tensor Imaging; Female; Follow-Up Studies; Humans; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Young Adult | 2013 |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Topics: Biomarkers, Pharmacological; Biopterins; Genotype; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Poland | 2013 |
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Topics: Biopterins; Child, Preschool; Combined Modality Therapy; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; United States | 2014 |
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.
Topics: Abortion, Spontaneous; Adult; Biopterins; Female; Humans; Obstetric Labor, Premature; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Young Adult | 2014 |
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Topics: Adult; Biopterins; Europe; Female; Fetal Blood; Genotype; Humans; Infant, Newborn; Nutritional Status; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pterins | 2014 |
[Consensus about the diagnosis and treatment of hyperphenylalaninemia].
Topics: Biopterins; Child; Consensus; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Societies, Medical | 2014 |
[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].
Topics: Biopterins; Child; Consensus; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Practice Guidelines as Topic; Severity of Illness Index; Tyrosine | 2014 |
Circulating tetrahydrobiopterin as a novel biomarker for abdominal aortic aneurysm.
Topics: Angiotensin II; Animals; Aortic Aneurysm, Abdominal; Apolipoproteins E; Biomarkers; Biopterins; Folic Acid; Hematinics; Male; Mice; Mice, Knockout; Phenylalanine; Vasoconstrictor Agents | 2014 |
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
Topics: 5-Hydroxytryptophan; Biopterins; Child, Preschool; China; Follow-Up Studies; Genotype; Humans; Infant; Infant, Newborn; Intelligence Tests; Levodopa; Mutation; Neopterin; Phenylalanine; Phenylketonurias; Treatment Outcome | 2015 |
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Data Collection; Diet; Dietary Proteins; Female; Humans; Infant; Male; Medication Adherence; Middle Aged; Phenylalanine; Phenylketonurias; Telephone; Young Adult | 2015 |
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Male; Patient Outcome Assessment; Phenylalanine; Phenylketonurias; Recommended Dietary Allowances; Time Factors | 2015 |
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet; Drug-Related Side Effects and Adverse Reactions; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Phenylalanine; Phenylketonurias; Registries; Time Factors; Tyrosine; Young Adult | 2015 |
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.
Topics: Biopterins; Female; Humans; Infant, Newborn; Male; Models, Statistical; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis; Retrospective Studies | 2015 |
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Topics: Biopterins; Body Height; Body Weight; Child, Preschool; Diet, Protein-Restricted; Female; Genotype; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Mutation; Nutritional Status; Phenylalanine; Phenylketonurias; Retrospective Studies; Spain | 2015 |
Validating the GTP-cyclohydrolase 1-feedback regulatory complex as a therapeutic target using biophysical and in vivo approaches.
Topics: Animals; Biopterins; Cell Line; GTP Cyclohydrolase; Humans; Intracellular Signaling Peptides and Proteins; Male; Mice, Inbred C57BL; Mice, Transgenic; Nitric Oxide; Phenylalanine; RNA, Messenger; Superoxides | 2015 |
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Topics: Adolescent; Adult; Alleles; Biopterins; Child; Child, Preschool; Diet; DNA; Genetic Association Studies; Genotype; Humans; Infant; Italy; Mutation; Phenotype; Phenylalanine; Phenylketonurias; Prognosis; Treatment Outcome; Young Adult | 2015 |
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
Topics: Adolescent; Adult; Autoimmune Diseases; Biopterins; Child; Child, Preschool; Chromosome Aberrations; Consanguinity; Diet; Disease Management; Europe; Female; Gastrointestinal Diseases; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies; Turkey | 2015 |
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
Topics: Administration, Oral; Animals; Biopterins; Brain; Disease Models, Animal; Dopamine; Genotype; Homovanillic Acid; Humans; Indoles; Mice; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase | 2016 |
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
Topics: Adipose Tissue; Alleles; Animals; Biopterins; Body Fat Distribution; Body Weight; Cholesterol; Female; Genotype; Glucose; Heterozygote; Homozygote; Lipid Metabolism; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Nitric Oxide Synthase; Nitric Oxide Synthase Type III; Obesity, Abdominal; Phenylalanine; Phosphorus-Oxygen Lyases; Transcriptome | 2016 |
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Topics: Alanine; Biomarkers; Biopterins; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prognosis | 2016 |
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.
Topics: Adult; Amino Acids, Neutral; Biomarkers; Biopterins; Dietary Supplements; Dopamine; Drug Synergism; Female; Humans; Male; Melatonin; Middle Aged; Phenylalanine; Phenylketonurias; Serotonin | 2016 |
Tetrahydrobiopterin Supplementation Improves Phenylalanine Metabolism in a Murine Model of Severe Malaria.
Topics: Animals; Aorta; Arginine; Biopterins; Brain; Disease Models, Animal; Humans; Malaria; Mice; Mice, Inbred C57BL; Nitric Oxide; Phenylalanine; Plasmodium berghei | 2016 |
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Topics: Alleles; Amino Acid Sequence; Biopterins; Case-Control Studies; Dopamine; Dystonia; Exons; Female; Fibroblasts; Gene Deletion; Genome-Wide Association Study; HSP70 Heat-Shock Proteins; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Repressor Proteins; Serotonin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 2017 |
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
Topics: Adolescent; Adult; Attention; Biopterins; Cognition; Depression; Executive Function; Female; Health Status; Humans; Inhibition, Psychological; Intelligence Tests; Male; Memory, Short-Term; Mental Health; Personality Disorders; Phenylalanine; Phenylketonurias; Self Report; Young Adult | 2017 |
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
Topics: Adolescent; Adult; Biomarkers; Biopterins; Case-Control Studies; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Multivariate Analysis; Neopterin; Phenylalanine; Phenylketonurias; Retrospective Studies; Tyrosine; Young Adult | 2017 |
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Topics: Biopterins; DNA Mutational Analysis; Early Diagnosis; Humans; Infant; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Treatment Outcome | 2017 |
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Humans; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Research Design; Retrospective Studies; Young Adult | 2017 |
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Topics: Animals; Biopterins; Disease Models, Animal; Humans; Inactivation, Metabolic; Kinetics; Liver; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Folding; Proteostasis | 2018 |
Carbohydrate status in patients with phenylketonuria.
Topics: Adolescent; Adult; Amino Acids; Biopterins; Body Mass Index; Carbohydrate Metabolism; Child; Child, Preschool; Cross-Sectional Studies; Dietary Supplements; Female; Humans; Insulin Resistance; Male; Middle Aged; Multicenter Studies as Topic; Phenylalanine; Phenylketonurias; Postprandial Period; Young Adult | 2018 |
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Topics: Adolescent; Adult; Age Factors; Biopterins; Child; Cognition; Diet; Female; Humans; Male; Phenylalanine; Phenylketonurias; Quality of Life; Surveys and Questionnaires; Young Adult | 2018 |
Successful control of maternal phenylketonuria by tetrahydrobiopterin.
Topics: Adult; Biopterins; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy | 2018 |
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Topics: Animals; Biopterins; Brain; Disease Models, Animal; GTP Cyclohydrolase; Homozygote; Humans; Liver; Mice; Motor Disorders; Mutant Proteins; Mutation, Missense; Phenylalanine; Survival Rate | 2019 |
[Early diagnosis of phenylketonuria. Physiopathology of the neuronal damage and therapeutic options].
Topics: Biopterins; Diet Therapy; Early Diagnosis; Humans; Neurons; Phenylalanine; Phenylketonurias; Tyrosine | 2019 |
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
Topics: Adolescent; Adult; Biopterins; Child; Female; Genotype; Humans; Male; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Standard of Care | 2020 |
The first study of successful pregnancies in Chinese patients with Phenylketonuria.
Topics: Adult; Biopterins; China; Diet; Disease Management; Female; Humans; Infant, Newborn; Maternal Nutritional Physiological Phenomena; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult | 2020 |
The Genetic Landscape and Epidemiology of Phenylketonuria.
Topics: Alleles; Biopterins; Europe; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2020 |
A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I.
Topics: Allosteric Regulation; Allosteric Site; Biopterins; Cryoelectron Microscopy; Crystallography, X-Ray; GTP Cyclohydrolase; Intracellular Signaling Peptides and Proteins; Mutagenesis, Site-Directed; Phenylalanine; Protein Structure, Quaternary | 2020 |
Guide for diagnosis and treatment of hyperphenylalaninemia.
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.
Topics: Biopterins; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Persons with Mental Disabilities; Phenylalanine; Phenylketonurias | 2021 |
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.
Topics: Biopterins; Canada; Europe; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; United States | 2021 |
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Developmental Disabilities; Female; Genetic Variation; HSP40 Heat-Shock Proteins; Humans; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Protein Isoforms | 2021 |
Dysregulated Phenylalanine Catabolism Plays a Key Role in the Trajectory of Cardiac Aging.
Topics: Aging; Amino Acids; Animals; Biomarkers; Biopterins; Catalysis; Cellular Senescence; Disease Models, Animal; Disease Susceptibility; Heart Diseases; Humans; Liver; Male; Mice; Mice, Knockout; Models, Biological; Myocardium; Myocytes, Cardiac; Phenylalanine; Rats | 2021 |
Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.
Topics: Biopterins; Child, Preschool; Female; Humans; Japan; Male; Phenylalanine; Phenylketonurias; Pregnancy; Product Surveillance, Postmarketing | 2022 |
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Topics: Acetylgalactosamine; Animals; Biopterins; Diet; Disease Models, Animal; Female; Hepatocytes; Humans; Liver; Male; Mice; Mice, Knockout; Nucleic Acid Conformation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Binding; RNA, Long Noncoding | 2021 |
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
Topics: Adolescent; Adult; Biomarkers; Biopterins; Child; Child, Preschool; Diet, Protein-Restricted; Eating; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Portugal; Practice Guidelines as Topic; Reference Standards; Reference Values; Retrospective Studies; Treatment Outcome; Young Adult | 2021 |
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
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.
Topics: Animals; Biopterins; Dihydropteridine Reductase; Fear; Humans; Mice; Phenylalanine; Phenylketonurias | 2022 |
Tetrahydrobiopterin modulates the behavioral neuroinflammatory response to an LPS challenge in mice.
Topics: Animals; Biopterins; Cytokines; Inflammation; Lipopolysaccharides; Mice; Phenylalanine; Tyrosine | 2022 |
Thermodynamics of iron, tetrahydrobiopterin, and phenylalanine binding to phenylalanine hydroxylase from Chromobacterium violaceum.
Topics: Biopterins; Chromobacterium; Ferrous Compounds; Iron; Kinetics; Metalloproteins; Phenylalanine; Phenylalanine Hydroxylase; Pterins; Thermodynamics; Tyrosine | 2022 |
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Topics: Biopterins; Diet; Humans; Infant; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life; Retrospective Studies | 2023 |