phenylalanine has been researched along with Amino Acid Metabolism Disorders, Inborn in 301 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 218 (72.43) | 18.7374 |
| 1990's | 61 (20.27) | 18.2507 |
| 2000's | 17 (5.65) | 29.6817 |
| 2010's | 1 (0.33) | 24.3611 |
| 2020's | 4 (1.33) | 2.80 |
| Authors | Studies |
|---|---|
| Bera, N; Chatterjee, J; Hazra, R; Mukhopadhyay, A; Nandi, PK; Nandi, S; Sarkar, N | 1 |
| Cooper, MS; Davison, AS; Deutz, NEP; Fitzgerald, R; Gallagher, JA; Ghane, P; Hughes, AT; Jarvis, JC; Khedr, M; Markinson, L; Milan, AM; Norman, BP; Psarelli, EE; Ranganath, LR; Sutherland, H | 1 |
| Bentlage, H; Berden, G; Boltje, TJ; Coene, KLM; de Boer, S; Engelke, UFH; Huigen, MCDG; Kluijtmans, LAJ; Martens, J; Moons, SJ; Oomens, J; Peters, TMA; van der Heeft, E; van Karnebeek, CDM; van Outersterp, RE; van Rooij, A; Wevers, RA | 1 |
| Çıkı, K; Dursun, A; Özgül, RK; Pektaş, E; Sivri, HS; Tokatlı, A; Yıldız, Y; Yücel Yılmaz, D | 1 |
| Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M | 1 |
| Danecka, MK; Gersting, SW; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Sommerhoff, CP; Staudigl, M | 1 |
| Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E | 1 |
| Jirosová, J; Kand'ár, R; Sladká, M; Záková, P | 1 |
| ZELLWEGER, H | 1 |
| ZETTERSTROEM, R | 1 |
| ALLEN, RH; LOGAN, JE; PASIEKA, AE; THOMAS, ME | 1 |
| BERMAN, JL; BRENCHLEY, Y; HSIA, DY; JUSTICE, P | 1 |
| GJESSING, LR; HALVORSEN, S | 1 |
| BORLAND, JL; LYNCH, HJ; MCCARTHY, CF; OWEN, EE; TYOR, MP | 1 |
| WOOLF, LI | 1 |
| FERGUSON, RL; SCHWARTZ, C; SCOTT, EB | 1 |
| Ding, Z; Martínez, A; Thöny, B | 1 |
| Denecke, J; Feldmann, R; Grenzebach, M; Weglage, J | 1 |
| Cornelio, A; Dutra-Filho, CS; Feksa, LR; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Guttler, F; Koch, R; Moseley, K | 1 |
| Antonozzi, I; Artiola, C; Carducci, C; Chiarotti, F; Giovanniello, T; Leuzzi, V | 1 |
| Artuch, R; Camino, R; Gascón, FJ; Lao, JI; López-Laso, E; Mateos, ME; Muñoz, MJ; Ochoa, JJ; Ormazabal, A; Pérez-Navero, JL; Vilaseca, MA | 1 |
| Blau, N; Demirkol, M; Fiege, B; Fiori, L; Gärtner, KH; Giovannini, M; Ozen, I; Thöny, B; Zurflüh, MR | 1 |
| Hargreaves, IP | 1 |
| Bachmann, C | 1 |
| Hsia, DY; O'Flynn, ME; Tillman, P | 1 |
| Halvorsen, S | 2 |
| Gentz, J; Levy, L; Lindblad, B; Lindstedt, S; Shasteen, W; Zetterstrom, R | 1 |
| Kelly, S; Swift, H | 1 |
| Efron, ML; Mechanic, GL; Shih, VE | 1 |
| Du, BN | 1 |
| Ficici, S; Fraser, D; Jackson, SH; Kooh, SW; Paunier, L; Sass-Kortsak, A | 1 |
| Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y | 1 |
| Tamimie, HS | 1 |
| Dhondt, JL | 2 |
| Kawatsu, T; Kida, K; Machino, H; Matsuda, H; Miki, Y | 1 |
| Johnson, RC; Shah, SN | 1 |
| Benevenga, NJ; Steele, RD | 1 |
| Güttler, F; Lou, H; Lykkelund, C; Niederwieser, A | 1 |
| Blau, K; Harvey, DR; Levitt, GA | 1 |
| de Céspedes, C; Nanne, C; Orlich, J; Ortiz, D; Rodríguez, J; Rojas, E; Santisteban, I | 1 |
| Buchman, M; Jehan, P; Odièvre, M | 1 |
| Annenkov, GA | 1 |
| Dhondt, JL; Farriaux, JP | 1 |
| Meister, A; Wellner, D | 1 |
| Cervenka, J; Dolezal, A; Homolka, J; Hoza, J; Hyánek, J; Kapras, J; Losan, F; Malá, M; Nevsímalová, S; Seemanová, E; Srácek, J; Tresohlavá, Z; Trnka, J; Vácha, V; Viletová, H | 1 |
| Blaskovics, M; Koch, R | 1 |
| Eller, AG; Hommes, FA; Taylor, EH | 1 |
| Bickel, H; Frey, G; Lutz, P; Schmidt, H | 1 |
| Bartholomé, K; Dresel, A | 1 |
| Jyothy, A; Reddi, OS; Reddy, PP; Uma, SM | 1 |
| Grüttner, R; Held, KR; Koepp, P; Plettner, C | 1 |
| Güttler, F | 1 |
| Clow, CL; Scriver, CR | 1 |
| Ardouin, P; Dautrevaux, M; Dhondt, JL; Farriaux, JP; Largilliere, C | 1 |
| Li, JB; Wassner, SJ | 1 |
| Coradello, H; Königshofer, H; Lubec, G; Scheibenreiter, S; Thalhammer, O | 1 |
| Fällström, SP; Lindblad, B; Steen, G | 1 |
| Paunier, L | 1 |
| Cohen, B; Szeinberg, A; Zarfin, Y | 1 |
| Arai, N; Ishizawa, S; Narisawa, K; Ogasawara, Y; Tada, K | 1 |
| Bartholomé, K; Kaufman, S; Lee, CL; Milstien, S; Nixon, JC | 1 |
| Carson, DJ; Zschocke, J | 1 |
| Fernández-Cañón, JM; Peñalva, MA | 1 |
| Blau, N; Coskun, T; Niederwieser, A; Ozalp, I; Tokatli, A | 1 |
| Berlin, CM; Francois, B; Guldberg, P; Güttler, F; Henriksen, KF; Koch, R; Levy, HL | 1 |
| Avigad, S; Brand, N; David, M; Eisensmith, RC; Kleiman, S; Munnich, A; Rey, F; Schwartz, G; Shiloh, Y; Shmuelevitz, A; Vanagaite, L; Woo, SL | 1 |
| Blau, N; Coelho, JC; Dutra-Filho, CS; Giugliani, R; Jardim, LB | 1 |
| Carson, DJ; Graham, CA; Nevin, NC; Stewart, FJ; Zschocke, J | 1 |
| Blau, N; Guldberg, P; Güttler, F; Henriksen, KF; Thöny, B | 1 |
| Kaufman, S; Milstien, S; Sakai, N | 1 |
| Bick, U; Ludolph, AC; Möller, H; Oberwittler, C; Schuierer, G; Stöber, U; Ullrich, K; Weglage, J; Wendel, U | 1 |
| Byrd, D; Konecki, DS; Lichter-Konecki, U; Schweitzer-Krantz, S; Trefz, FK | 1 |
| Blau, N; Harvie, A; Heizmann, CW; Leimbacher, W; Thöny, B | 1 |
| Agostoni, C; Biasucci, G; Giovannini, M; Riva, E | 1 |
| Bosco, P; Ceratto, N; Ciuna, M; Giovannini, M; Guldberg, P; Indelicato, A; Meli, C; Mollica, F; Riva, E; Romano, V | 1 |
| Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW | 1 |
| Guldberg, P; Güttler, F; Henriksen, KF; Holck, B; Lou, HC; Mikkelsen, I; Olsen, B | 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 |
| Aoki, K | 1 |
| Saraiva, JM; Seakins, JW; Smith, I | 1 |
| Citron, BA; Johnen, G; Kaufman, S; Kowlessur, D | 1 |
| Anello, G; Biasucci, G; Bosco, P; Calí, F; Ceratto, N; Giovannini, M; Guldberg, P; Güttler, F; Luotti, D; Meli, C; Mollica, F; Palillo, L; Pavone, L; Riva, E; Romano, V | 1 |
| Barnes, I; Blau, N; Dhondt, JL | 1 |
| Blau, N; Brecevic, L; Heizmann, CW; Kluge, C; Thöny, B | 1 |
| Guldberg, P; Guttler, F; Henriksen, KF; Levy, HL | 1 |
| Pogson, D | 1 |
| Blau, N; Heizmann, CW; Kluge, C; Matasovic, A; Oppliger, T; Ponzone, A; Spada, M; Thöny, B | 1 |
| Dom, K; Pittevils, T | 1 |
| Fünders, B; Güttler, F; Harms, E; Pietsch, M; Ullrich, K; Weglage, J | 1 |
| Kaufman, S | 4 |
| Cotton, RG; Dahl, HH; Dobbs, M; Gough, T; Ikeda, H; Kure, S; Matsubara, Y; Mikami, H; Narisawa, K; Owada, M; Smooker, PM | 1 |
| Asada, M; Isshiki, G; Sawada, Y; Shintaku, H | 1 |
| Brandi, N; Cambra, FJ; Campistol, J; Deulofeu, R; Lambruschini, N; Mira, A; Moyano, D; Sierra, C; Vilaseca, MA | 1 |
| Ayling, JE; Blau, N; de Klerk, JB; Duran, M; Germann, R; Guibaud, P; Heidenreich, RA; Kierat, L; Neuheiser, F; Rolland, MO; Schlüter, T; Thöny, B | 1 |
| Byck, S; Carter, KC; Laframboise, R; Lambert, M; Nowacki, PM; Richards, B; Scriver, CR; Treacy, E; Waters, PJ | 1 |
| Green, A; Hall, SK; Leeming, RJ | 1 |
| Hase, Y; Imamura, T; Isshiki, G; Okano, Y; Shintaku, H | 1 |
| Endo, F | 1 |
| Alliaudi, C; Biasucci, G; Blau, N; Cerone, R; Coskun, T; de Sanctis, L; Dianzani, I; Farrugia, R; Meli, C; Ponzone, A; Spada, M; Zammarchi, E | 1 |
| Erlandsen, H; Stevens, RC | 1 |
| Acosta, AX; Gjetting, T; Guldberg, P; Güttler, F; Haavik, J; Knappskog, PM; Romstad, A; Silva, WA; Zago, MA | 1 |
| Hoffmann, GF; Mayatepek, E; Schulze, A | 1 |
| Shintaku, H | 3 |
| Pratt, OE | 1 |
| Bartholome, K; Gröbe, H; Kaufman, S; Milstien, S | 1 |
| Hughes, JV; Johnson, TC | 1 |
| Brady, RO | 2 |
| Bartholomé, K; Clayton, BE; Curtius, H; Danks, DM; Gröbe, H; Kaufman, S; Leeming, R; Pfleiderer, W; Rembold, H; Rey, F | 1 |
| Hirano, S | 1 |
| Ardouin, P; Cartigny, B; Dhondt, JL; Farriaux, JP | 1 |
| Bartholomé, K; Erlenmaier, T; Hunneman, DH; Lutz, P; Trefz, FK | 1 |
| Bickel, H | 2 |
| Zammarchi, E | 1 |
| Güttler, F; Hansen, G | 1 |
| Holub, J; Hoza, J; Hyánek, J; Karger, P; Kunová, V; Simková, M; Stechovská, M; Valík, A | 1 |
| Ellory, JC; Tucker, EM; Young, JD | 1 |
| Homolka, J; Hyánek, J; Kubík, M; Kunová, V; Losan, F; Matousová, M; Nováková, V; Salichová, J; Seemanová, E; Sujanová, H; Viletová, H; Zeman, L | 1 |
| Matolon, R; Michals, K; Wong, PW | 1 |
| Kitagawa, T; Owada, M | 1 |
| Enzenauer, J; Matz, D; Menne, F | 1 |
| Athar, HS; Hasnain, SN | 1 |
| Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M | 1 |
| Cohn, RM; Segal, S; Yost, B; Yudkoff, M | 1 |
| Koepp, P | 1 |
| Mönch, E; Stäblein, W; Winkelmann, M | 1 |
| Cotton, RG; Schlesinger, P; Watson, BM | 1 |
| Havelec, L; Knoll, E; Thalhammer, O; Wehle, E | 1 |
| Aymard, P; Brissaud, HE; Costil, J; Richardet, JM | 1 |
| Berry, HK | 1 |
| Holub, J; Hoza, J; Hyánek, J; Karger, P; Simková, M; Viletová, H | 1 |
| Hoffman, B; Koepp, P | 1 |
| Brown, ES; Kitagawa, T; Smith, BA | 1 |
| Grimm, U; Knapp, A; Reddemann, H; Schlenzka, K | 1 |
| Karoum, F; Ruthven, CR; Sandler, M | 1 |
| Biggart, JD; Bittles, AH; Carson, NA; Donovan, D | 1 |
| Hyánek, J; Kubík, M; Kunová, V; Matousová, M; Soukupová, Z; Tauchmanová, H; Viletová, H | 1 |
| Blau, N; Cotton, RG; Heizmann, CW; Hoffmann, GF; Korenke, GC; Smooker, PM; Sperl, W | 1 |
| Eisensmith, RC; Woo, SL | 1 |
| Dworniczak, B; Eisensmith, RC; Hagenfeldt, L; Horst, J; Svensson, E; von Döbeln, U; Woo, SL | 1 |
| John, SW; Laframboise, R; Rozen, R; Scriver, CR | 1 |
| Giraud, F; Maurin, N; Sarles, J | 1 |
| Guibaud, P; Touraine, RL | 1 |
| Hjalmarson, O; Holme, E; Lindstedt, S; Lock, EA; Strandvik, B | 1 |
| Zhao, G | 1 |
| Chalmers, RA; Halliday, D; Thompson, GN | 1 |
| Miller, JB; Qu, Y; Shapira, E; Slocum, RH | 1 |
| Hommes, FA | 2 |
| Avigad, S; Cohen, BE; Kleiman, S; Schwartz, G; Shiloh, Y; Weinstein, M; Woo, SL | 1 |
| Kakinuma, H; Sato, H; Tsuchiya, M; Yokoyama, Y | 1 |
| Barr, DG; Kirk, JM; Laing, SC | 1 |
| DiSilvestre, D; Groffen, J; Koch, R | 1 |
| al Aqeel, A; al Nasser, M; Blau, N; Brismar, J; Gascon, G; Hughes, H; Nester, M; Ozand, PT; Reynolds, CT; Subramanyan, SB | 1 |
| Dhondt, JL; Farriaux, JP; Ringel, J; Tilmont, P | 1 |
| Divry, P; Guibaud, P; Mandon, G; Mathieu, M; Rolland, MO; Sournies, G; Thoulon, JM | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Bain, MD; Bingham, P; Chalmers, RA; Jones, M; Purkiss, P; Stacey, TE | 1 |
| Bode, VC; Dove, WF; McDonald, JD; Shedlovsky, A | 1 |
| Buttè, C; Giovannini, M; Longhi, R; Paccanelli, S; Riva, E; Valsasina, R | 1 |
| Miyatake, T; Nakajima, T; Owada, M; Tanaka, K; Yoneda, M | 1 |
| Curtius, HC; Niederwieser, A | 1 |
| Bartlett, K; Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Blau, N; Matalon, R; Michals, K; Rouse, B | 1 |
| Benini, MP; La Torre, A; Lenzi, G; Matteoni, D; Pistone, D; Zammarchi, E | 1 |
| Kaufman, S; Scriver, CR; Woo, SL | 1 |
| Reavey, PC; Yadav, GC | 1 |
| McCabe, ER; McCabe, L; Nord, AM | 1 |
| Aoki, K; Wada, Y | 1 |
| Matsuo, N | 1 |
| Clow, CL; Kaplan, P; Niederwieser, A; Scriver, CR | 1 |
| Lyonnet, S; Munnich, A; Rey, F; Rey, J | 1 |
| Ferreira, P; Grenier, A; Laberge, C; Laframbroise, R; Morissette, J | 1 |
| Bode, VC; Guenet, JL; McDonald, JD; Simon, D | 1 |
| Bracco, G; Ferraris, S; Guardamagna, O; Ponzone, A | 1 |
| Beasley, M; Smith, I; Wolff, O | 1 |
| Blair, JA; Green, A; Karim, AR; Leeming, RJ; Sahota, AS | 1 |
| Horn, L; Jellum, E; Kvittingen, EA; Stokke, O; Thoresen, O | 1 |
| Choi, TB; Pardridge, WM | 1 |
| Wachtel, U | 1 |
| Curtius, HC; Niederwieser, A; Ponzone, A | 1 |
| Hyland, K; Kendall, B; Smith, I | 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 |
| Becker, K; Behbehani, AW; Harenz, J; Hommel, G; Kalle, N | 1 |
| Cady, EB; Gadian, DG; Gardiner, RM; Proctor, E; Williams, SR | 1 |
| Bailey-Wilson, JE; Blitzer, MG; Shapira, E | 1 |
| Friedman, PA; Kang, ES; Kaufman, S | 1 |
| Raine, DN | 1 |
| Lutz, P | 1 |
| Hsia, DY | 1 |
| Gerritsen, T; Siegel, FL | 1 |
| Lothaller, H; Rett, A; Zimprich, H | 1 |
| Royer, P | 1 |
| Bakker, HD; de Bree, PK; van Sprang, FJ; Wadman, SK | 1 |
| Bremer, HJ; Henze, H | 1 |
| Gaull, GE; Harris, RC; Rassin, DK; Solomon, GE; Sturman, JA | 1 |
| Fekete, G | 1 |
| Century, B; Natelson, S; Vorkink, WP | 1 |
| Farriaux, JP; Fontaine, G; Mesmacque-Caby, D | 1 |
| Kitagawa, T | 1 |
| Blaskovics, ME; Hack, S; Schaeffler, GE | 1 |
| Hlavon, J; Kaniová, V; Mrskos, A; Podhradská, O; Pospísil, R; Saxl, O | 1 |
| Cartigny, B; Dhondt, JL; Farriaux, JP | 1 |
| Davies, H; Louis, WJ; Pitt, DD | 1 |
| Vis, HL | 1 |
| Rampini, S | 1 |
| Bremer, HJ; Przyrembel, H | 1 |
| Frimpter, GW | 1 |
| Farriaux, JP; Fontaine, G | 1 |
| Levy, HL | 3 |
| Nothjunge, J | 1 |
| Blaskovics, ME | 1 |
| Bickel, H; Lutz, P; Nützenadel, W | 1 |
| Baerlocher, K; Curtius, HC; Völlmin, JA | 2 |
| Bergner, H; Münchmeyer, R; Simon, O | 1 |
| Frézal, J | 1 |
| Berry, HK; Light, IJ; Sutherland, JM | 2 |
| Böhme, G; Theile, H | 1 |
| Güttler, F; Rosleff, F | 1 |
| Beber, B; Tocci, PM | 1 |
| Lines, DR | 1 |
| Spahr, A | 1 |
| Blaton, V; Lievens-Taveirne, J; Peeters, H; Vercaemst, R | 1 |
| Lines, DR; Swanson, M | 1 |
| Kovács, J | 1 |
| Hlavon, J; Kaniová, V; Mrskos, A; Podhradská, O; Pospísil, R; Saxi, O | 1 |
| Ambrose, JA | 1 |
| Halvorsen, S; Skjelkvåle, L | 1 |
| Wranne, L | 1 |
| Bosshard, HR; Curtius, HC; Müller, M; Rampini, S; Völlmin, JA | 1 |
| Colombo, JP | 1 |
| Yu, JS | 1 |
| Shoma, N | 1 |
| Garcia, FG; Jones, TC; Levy, HL; MacCeady, RA; Shih, VE | 1 |
| Hyánek, J | 1 |
| De Maré, JM; Jagenburg, R; Landblad, B; Rödjer, S | 1 |
| Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN | 1 |
| Davison, AN | 1 |
| Tada, K; Takada, G | 2 |
| Carson, NA | 2 |
| Clayton, BE | 1 |
| Bellati, R; Berio, A; Di Stefano, A; Viglione, M | 1 |
| Grüttner, R; Rybak, C; Sternowsky, HJ | 1 |
| Lindroos, OF; Oja, SS | 1 |
| Schön, R; Thalhammer, O | 1 |
| Hill, A; Zaleski, WA | 1 |
| Costantini, ML; Grannis, GF; Gruemer, HD; Hetland, LB | 1 |
| Carrell, RW; Swallow, WH | 1 |
| Hsia, DY; O'Flynn, ME | 1 |
| Aviad, Y; Berman, W; Cohen, BE; Crispin, M; Goland, R; Hirshorn, N; Szeinberg, A | 1 |
| Giunti, A | 1 |
| Holton, JB; Small, NA | 1 |
| Hill, A; Nordin, PM; Zaleski, WA | 1 |
| Mrskos, A; Podhradská, O | 1 |
| Kahn, LI | 1 |
| Carpenter, DG; Carter, CH | 1 |
| Holtzman, NA; Menkes, JH | 2 |
| Danks, DM | 1 |
| Bamshad, J | 1 |
| Coburn, SP; Fuller, RW; Mahuren, JD | 1 |
| Baullinger, PC; Levy, HL; Madigan, PM | 1 |
| Helger, R; Kraffczyk, F; Lang, H | 1 |
| Gusev, EI | 1 |
| Orsini, A; Perrimond, H; Pierron, H; Vovan, L | 1 |
| Dyken, P | 1 |
| Aronsson, S; Engleson, G; Jagenburg, R; Palmgren, B | 1 |
| Cottom, D; Ersser, RS; Fairney, A; Francis, D; Seakins, JW | 1 |
| Nakagawa, H; Tada, K; Wada, Y; Yazaki, N; Yokoyama, T | 1 |
| Adam, E; Dautrevaux, M; Farriaux, JP; Fontaine, G; Gosselin, B | 1 |
| Gentz, J; Johansson, S; Lindblad, B; Lindstedt, S; Zetterström, R | 1 |
| Ersser, RS; Harries, JT; Lloyd, JK; Seakins, JW | 1 |
| Clow, C; Davies, E; Scriver, CR | 1 |
| Bodegård, G; Gentz, J; Lindblad, B; Lindstedt, S; Zetterström, R | 1 |
| Gross, S; Maskaleris, ML; Milhorat, AT | 1 |
| Gentz, J; Lindblad, B; Lindstedt, S; Zetterström, R | 1 |
45 review(s) available for phenylalanine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
INHERITED METABOLIC DISORDERS: ERRORS OF PHENYLALANINE AND TYROSINE METABOLISM.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Tyrosine | 1963 |
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Coenzymes; Humans; Hydroxymethylglutaryl CoA Reductases; Metabolic Networks and Pathways; Mevalonic Acid; Mitochondrial Diseases; Models, Biological; Oxidative Stress; Phenylalanine; Phenylketonurias; Ubiquinone | 2007 |
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Folic Acid; GTP Cyclohydrolase; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines | 1984 |
Adverse effects of excessive consumption of amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Animal; Ethionine; Fenclonine; Glycine; Growth Disorders; Histidine; Humans; Methionine; Nerve Tissue Proteins; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pneumonia, Atypical Interstitial, of Cattle; Serine; Stereoisomerism; Sulfhydryl Compounds; Tissue Distribution; Tryptophan; Tyrosine; Vitamin A | 1984 |
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine | 1981 |
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Carrier Screening; Humans; Infant, Newborn; Intellectual Disability; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Terminology as Topic | 1980 |
Phenylketonuria and other phenylalanine hydroxylation mutants in man.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Dihydropteridine Reductase; Female; Fetal Diseases; Gene Frequency; Genetic Carrier Screening; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats | 1980 |
White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Phenylalanine; Phenylketonurias | 1993 |
[Disorders of amino acids].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Homocystine; Humans; Infant; Japan; Male; Maple Syrup Urine Disease; Phenylalanine; Reference Standards | 1993 |
Ochronotic arthropathy: the black hip. Case report and review of the literature.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Cartilage, Articular; Follow-Up Studies; Hip Joint; Hip Prosthesis; Humans; Male; Middle Aged; Ochronosis; Osteoarthritis; Phenylalanine; Tyrosine | 1997 |
[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 |
[Inborn errors of tyrosine metabolism: abnormalities in catabolic pathway of phenylalanine and tyrosine].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; Amino Acid Metabolism, Inborn Errors; Animals; Humans; Mice; Mutation; Phenylalanine; Tyrosine; Tyrosinemias | 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 |
The transport of metabolizable substances into the living brain.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Blood Glucose; Blood-Brain Barrier; Brain; Glucose; Haplorhini; Humans; Hyperglycemia; Insulin; Ketone Bodies; Lactates; Neurotransmitter Agents; Papio; Phenylalanine; Pyruvates; Rats; Renal Aminoacidurias; Thyroid Hormones; Tryptophan | 1976 |
Inherited metabolic diseases and pathogenesis of mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Cytochrome Reductases; Deoxyglucose; Dihydrolipoamide Dehydrogenase; Energy Metabolism; Gangliosides; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Phenylalanine; Pyruvate Dehydrogenase Complex Deficiency Disease | 1978 |
[Disorders of amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child, Preschool; Humans; Intelligence; Lipid Metabolism; Mice; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Serotonin | 1977 |
[Diagnosis and management of the aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Citric Acid Cycle; Female; Genotype; Homocysteine; Humans; Lysine; Phenylalanine; Pregnancy; Prenatal Diagnosis | 1978 |
[Diagnosis and therapy of 6 inherited, metabolic diseases, leading to mental deficiency. 1].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Heterozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intelligence Tests; Mass Screening; Mental Disorders; Phenylalanine; Phenylketonurias; Tyrosine | 1976 |
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Codon; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic | 1992 |
[Genetics and hyperphenylalaninemias in 1992].
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Ethnicity; Female; Genetic Carrier Screening; Genetic Counseling; Genetic Therapy; Haplotypes; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutagenesis; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length; Pregnancy | 1992 |
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1991 |
[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 |
The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Blood-Brain Barrier; Brain; Humans; Intellectual Disability; Phenylalanine | 1989 |
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 |
Mendelian hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dihydropteridine Reductase; Genes; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1988 |
Hyperphenylalaninemia syndromes: current status of diagnosis and management.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome | 1988 |
Enzymology of the phenylalanine-hydroxylating system.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Hydroxylation; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase | 1987 |
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Genetic Variation; Humans; Hydroxylation; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1987 |
[Hyperphenylalaninemias. The Canadian and Quebec experience].
Topics: Amino Acid Metabolism, Inborn Errors; Canada; Female; Humans; Male; Mass Screening; Phenylalanine; Phenylketonurias; Quebec; Societies, Medical | 1987 |
Neutral amino acid transport at the human blood-brain barrier.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Binding, Competitive; Biological Transport; Blood-Brain Barrier; Brain; Capillaries; Carrier Proteins; Cell Membrane; Humans; Kinetics; Nutrition Disorders; Phenylalanine | 1986 |
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Biopterins; Diet; Dietary Proteins; Dihydropteridine Reductase; Europe; Female; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Prognosis; Pterins; Tyrosine | 1986 |
[Transitory hypertyrosinemia of young infants and its relation to vitamin C].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Guinea Pigs; Humans; Infant, Newborn; Infant, Premature, Diseases; Liver; Mixed Function Oxygenases; Phenylalanine; Rats; Tyrosine; Tyrosine Transaminase | 1969 |
[Congenital disorders of phenylalanine metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Transferases | 1973 |
[Transitory disorders of amino acid metabolism. Practical viewpoints].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Cystathionine; Diagnosis, Differential; Histidine; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Infant, Premature, Diseases; Male; Metabolic Diseases; Methionine; Milk Proteins; Phenylalanine; Rats; Testicular Diseases; Time Factors; Tyrosine | 1973 |
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; Tyrosine | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
[Clinico-chemical symptom: hyperphenylalaninemia].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Syndrome | 1974 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
Phenylketonuria and other phenylalaninaemias.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Child; Diet; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Time Factors | 1974 |
Hyperphenylalaninemia and pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Female; Haplorhini; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Mass Screening; Microcephaly; Phenylalanine; Pregnancy; Pregnancy Complications | 1972 |
Phenylketonuria: a review.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Mass Screening; Minerals; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Transaminases; Vitamins | 1970 |
Amino acid intoxication.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport, Active; Brain; Caseins; Chickens; Cytoplasm; Endoplasmic Reticulum; Fasting; Feeding Behavior; Glutathione; Growth; Humans; Injections, Intraperitoneal; Leucine; Liver; Methionine; Microsomes; Mitochondrial Swelling; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Protein Biosynthesis; Rats; Tyrosine | 1971 |
Hyperphenylalanemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1967 |
1 trial(s) available for phenylalanine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Infant, Newborn; Mutation; Northern Ireland; Phenylalanine; Phenylalanine Hydroxylase | 1995 |
255 other study(ies) available for phenylalanine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Amyloids Formed by Nonaromatic Amino Acid Methionine and Its Cross with Phenylalanine Significantly Affects Phospholipid Vesicle Membrane: An Insight into Hypermethioninemia Disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amyloid; Glycine N-Methyltransferase; Methionine; Phenylalanine; Phospholipids | 2022 |
Nitisinone causes acquired tyrosinosis in alkaptonuria.
Topics: Adult; Aged; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Animals; Cyclohexanones; Female; Humans; Male; Mice; Mice, Inbred BALB C; Middle Aged; Nitrobenzoates; Phenylalanine; Tyrosine; Young Adult | 2020 |
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Glucose; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Glycation End Products, Advanced; Humans; Infant; Infant, Newborn; Magnetic Resonance Spectroscopy; Male; Mass Spectrometry; Middle Aged; Phenylalanine; Spectrophotometry, Infrared; Young Adult | 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 |
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders | 2019 |
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 |
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cell Line, Tumor; Cells, Cultured; Culture Media; Electron Transport; Female; Humans; Lactic Acid; Male; Middle Aged; Mitochondrial Diseases; Phenylalanine; Phenylketonurias; Pyruvic Acid; Tremor; Tyrosine; Ubiquinone; Young Adult | 2009 |
Determination of branched chain amino acids, methionine, phenylalanine, tyrosine and alpha-keto acids in plasma and dried blood samples using HPLC with fluorescence detection.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Blood Stains; Chromatography, High Pressure Liquid; Female; Fluorescence; Humans; Infant, Newborn; Keto Acids; Male; Methionine; Phenylalanine; Reference Values; Tyrosine | 2009 |
Aminoaciduria and mental retardation. II. Phenylpyruvic oligophrenia, phenylketonuria (PKU).
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1961 |
TYROSINOSIS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Genetics, Medical; Glycine; Metabolic Diseases; Phenols; Phenylalanine; Phenylpyruvic Acids; Tyrosine; Urine | 1963 |
SPECIFIC DETECTION OF PHENYLALANINE FOLLOWING CHROMATOGRAPHIC SEPARATION FROM SERUM AND URINE OF PHENYLKETONURIC.
Topics: Amino Acid Metabolism, Inborn Errors; Bicarbonates; Blood Chemical Analysis; Chromatography; Humans; Indicators and Reagents; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Urine | 1964 |
BRAIN SEROTONIN IN EXPERIMENTAL TYROSINOSIS.
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Blood; Brain; Carboxy-Lyases; Guinea Pigs; Metabolic Diseases; Monoamine Oxidase; Pharmacology; Phenylalanine; Phenylketonurias; Research; Serotonin; Toxicology; Tyrosine | 1964 |
STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Diet; Diet Therapy; Hepatomegaly; Humans; Kidney; Kidney Function Tests; Lactates; Liver Diseases; Liver Function Tests; Phenylalanine; Phenylpyruvic Acids; Phosphates; Renal Aminoacidurias; Rickets; Tyrosine; Urine | 1964 |
DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Basic; Arginine; Carbon Isotopes; Cystine; Cystinuria; Duodenum; Humans; Intestinal Absorption; Intestinal Mucosa; Leucine; Lysine; Mucous Membrane; Ornithine; Phenylalanine | 1964 |
Histopathology of amino acid deficiencies. I. Phenylalanine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Phenylalanine | 1951 |
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 |
Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Central Nervous System; Diabetes Mellitus; Female; Frontal Lobe; Humans; Intelligence; Intelligence Tests; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Social Class; Time Factors | 2005 |
The effects of the interactions between amino acids on pyruvate kinase activity from the brain cortex of young rats.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Binding Sites; Brain Diseases, Metabolic, Inborn; Cerebral Cortex; Cystine; Energy Metabolism; Feedback, Physiological; Nerve Degeneration; Phenylalanine; Pyruvate Kinase; Rats; Rats, Wistar; Serine; Tryptophan | 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 |
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 |
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
Topics: Administration, Oral; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; GTP Cyclohydrolase; Humans; Infant; Male; Middle Aged; Phenylalanine; Time Factors | 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 |
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Cell Compartmentation; Follow-Up Studies; Humans; Models, Biological; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Urea | 2008 |
Hyperphenylalanemia without phenylketonuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Diagnosis, Differential; Diet Therapy; Female; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Dietary treatment of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Growth; Humans; Infant; Kidney Diseases; Kidney Tubules; Liver Cirrhosis; Methionine; Mixed Function Oxygenases; Phenylalanine; Phosphorus; Rickets; Tyrosine | 1967 |
Dietary treatment in tyrosinemia (tyrosinosis). With a note on the possible recognition of the carrier state.
Topics: Amino Acid Metabolism, Inborn Errors; Carrier State; Child; Child, Preschool; Diet Therapy; Female; Growth; Humans; Kidney Diseases; Kidney Tubules; Male; Mixed Function Oxygenases; Phenylacetates; Phenylalanine; Seizures; Tyrosine | 1967 |
Amino acid abnormalities in a mentally retarded population.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Female; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; Chromatography, Ion Exchange; Citrates; Cysteine; Cystine; Glutamates; Glutamine; Glycine; Humans; Hydrogen-Ion Concentration; Hydroxyproline; Isoleucine; Phenylalanine; Proline; Sarcosine; Serine; Threonine; Tyrosine; Valine | 1967 |
The enzymatic deficiency in tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Oxidoreductases; Phenylalanine; Tyrosine | 1967 |
Observations on treatment in patients with tyrosyluria.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant; Phenylalanine; Tyrosine | 1967 |
Hypervalinemia. A defect in valine transamination.
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine | 1967 |
Feeding chicks high levels of L-phenylalanine and L-methionine supplemented diets in the study of experimental aspects of phenylketonuria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Diet; Growth; Homocystinuria; Humans; Methionine; Norepinephrine; Phenylalanine; Phenylketonurias; Poultry; Serotonin | 1967 |
Successful dietary control of tyrosinemia II.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Corneal Opacity; Female; Humans; Keratins; Keratoderma, Palmoplantar; Phenylacetates; Phenylalanine; Phenylpropionates; Phenylpyruvic Acids; Syndrome; Tyrosine; Tyrosine Transaminase | 1983 |
Effect of hyperphenylalaninemia induced during suckling on brain DNA metabolism in rat pups.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Cell Division; Disease Models, Animal; DNA; DNA Replication; Fenclonine; Kinetics; Phenylalanine; Rats; Rats, Inbred Strains | 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 |
Hyperphenylalaninemia with defective transamination.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Humans; Infant; Male; Phenylalanine; Tyrosine | 1983 |
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminoisobutyric Acids; Child; Costa Rica; Creatinine; Female; Glycine; Hearing Disorders; Humans; Intellectual Disability; Male; Mental Disorders; Phenylalanine; Speech Disorders | 1983 |
[Dietary management of hereditary tyrosinemia. Apropos of 7 cases].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Male; Methionine; Phenylalanine; Tyrosine | 1984 |
[Phenylketonuria and hyperphenylalaninemia: clinico-genetic classification of 14 forms].
Topics: Amino Acid Metabolism, Inborn Errors; Genotype; Humans; Phenylalanine; Phenylketonurias; Syndrome | 1984 |
Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1981 |
Results of screening for phenylalanine and other amino acid disturbances among pregnant women.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Humans; Male; Pedigree; Phenylalanine; Pregnancy; Pregnancy Complications; Tyrosine | 1980 |
Four cases of hyperphenylalaninaemia: studies during pregnancy and of the offspring produced.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diet; Electroencephalography; Female; Humans; Infant, Newborn; Middle Aged; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Proteins; Time Factors | 1982 |
Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Half-Life; Humans; Lysine; Myelin Proteins; Myelin Sheath; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1982 |
Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Dietary Proteins; Humans; Infant; Phenylalanine; Phenylketonurias | 1982 |
Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Antibodies; Humans; Immunodiffusion; Immunoelectrophoresis; Isoelectric Focusing; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rabbits | 1982 |
Aminoacidopathies in Andhra Pradesh; report of a screening programme.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; India; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine | 1982 |
Plasma amino acid pattern at noon in early treated hyperphenylalaninemic, phenylketonuric, and normal children.
Topics: Adolescent; Aging; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Female; Glutamine; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Time Factors | 1983 |
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Pteridines; Pterins; Spectrometry, Fluorescence | 1981 |
High-performance liquid chromatographic separation of six essential amino acids and its use as an aid in the diagnosis of branched-chain ketoaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Chromatography, High Pressure Liquid; Female; Humans; Infant, Newborn; Isoleucine; Keto Acids; Leucine; Peritoneal Dialysis; Phenylalanine; Time Factors; Valine | 1982 |
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Homozygote; Humans; Infant, Newborn; Lymphocytes; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1982 |
On the renal tubular damage in hereditary tyrosinemia and on the formation of succinylacetoacetate and succinylacetone.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child; Heptanoates; Homogentisic Acid; Humans; Infant; Keto Acids; Kidney Diseases; Kidney Tubules; Male; Phenylalanine; Proteinuria; Tyrosine | 1981 |
[Detections tests for newborn infants].
Topics: Amino Acid Metabolism, Inborn Errors; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Methionine; Phenylalanine | 1981 |
Malignant hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine | 1981 |
A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Child; Female; Fibroblasts; Humans; Intellectual Disability; Liver; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1980 |
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Chromatography, High Pressure Liquid; Humans; Liver; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Fungal metabolic model for human type I hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Aspergillus nidulans; Chromatography, High Pressure Liquid; Dioxygenases; Enzyme Inhibitors; Gas Chromatography-Mass Spectrometry; Genes, Fungal; Heptanoates; Homogentisate 1,2-Dioxygenase; Humans; Hydrolases; Models, Genetic; Molecular Sequence Data; Mutation; Open Reading Frames; Oxygenases; Phenylalanine; Restriction Mapping; Sequence Homology, Amino Acid; Tyrosine | 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 |
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Topics: Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Genotype; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1994 |
Origins of hyperphenylalaninemia in Israel.
Topics: Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Genetic Variation; Genotype; Haplotypes; Humans; Israel; Jews; Middle East; Molecular Epidemiology; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length | 1994 |
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 |
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Ireland; Liver; Molecular Sequence Data; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction | 1994 |
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Codon; Denmark; DNA; Exons; Genotype; Humans; Infant, Newborn; Introns; Mass Screening; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation | 1994 |
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 |
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genotype; Humans; Infant, Newborn; Male; Phenotype; Phenylalanine; Phenylketonurias | 1993 |
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 |
Lipidic and fatty acid status in treated hyperphenylalaninemic children.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Fatty Acids, Unsaturated; Humans; Lipids; Phenylalanine | 1994 |
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Mutational Analysis; Europe; Genotype; Humans; Molecular Sequence Data; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Sicily | 1993 |
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 |
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Consanguinity; DNA; Exons; Female; Homozygote; Humans; Infant; Male; Molecular Sequence Data; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Point Mutation | 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 |
Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Bayes Theorem; Female; Heterozygote; Humans; Male; Phenylalanine; Risk Factors; Tyrosine | 1993 |
[The pediatrician and early detection of hyperphenylalaninemia. Study Group on Hyperphenylalaninemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Phenylalanine | 1993 |
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; CHO Cells; Chromatography, Gel; Cloning, Molecular; Cricetinae; DNA Primers; Electrophoresis, Polyacrylamide Gel; Enzyme Stability; Humans; Hydro-Lyases; Kinetics; Macromolecular Substances; Molecular Sequence Data; Mutagenesis, Site-Directed; Phenylalanine; Point Mutation; Polymerase Chain Reaction; Recombinant Proteins; Thermodynamics; Transfection | 1995 |
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genotype; Humans; Infant, Newborn; Intellectual Disability; Male; Neonatal Screening; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Psychometrics; Sicily | 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 |
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.
Topics: Alcohol Oxidoreductases; Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Blotting, Southern; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 9; Cloning, Molecular; Exons; Humans; In Situ Hybridization, Fluorescence; Introns; Molecular Sequence Data; Mutation; Phenylalanine; Phosphorus-Oxygen Lyases; Sequence Analysis | 1996 |
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Topics: Adolescent; Alleles; Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis; Exons; Female; Genetic Counseling; Humans; Male; Mutation; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Prenatal Diagnosis | 1996 |
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 |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
Topics: Alcohol Oxidoreductases; Alleles; Amino Acid Metabolism, Inborn Errors; Blotting, Western; Cells, Cultured; DNA, Complementary; Enzyme Stability; Female; Heterozygote; Homozygote; Humans; Infant, Newborn; Italy; Male; Molecular Sequence Data; Mutation; Pedigree; Phenylalanine; Phosphorus-Oxygen Lyases; Pterins; Recombinant Proteins; Sequence Analysis, DNA; Transfection | 1997 |
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Attention; Career Choice; Data Interpretation, Statistical; Female; Genotype; Humans; Intelligence; Job Satisfaction; Learning Disabilities; Magnetic Resonance Imaging; Male; Movement Disorders; Nervous System Diseases; Neurotic Disorders; Phenotype; Phenylalanine; Phenylketonurias; Problem Solving; Psychomotor Performance; Tremor | 1997 |
Genetic disorders involving recycling and formation of tetrahydrobiopterin.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Incidence; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1998 |
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Dihydropteridine Reductase; DNA Mutational Analysis; DNA, Complementary; Female; Genes; Humans; Infant, Newborn; Introns; Japan; Male; Molecular Sequence Data; Phenylalanine; Phenylketonurias; Point Mutation; RNA Splicing; RNA, Messenger | 1997 |
Antioxidant status in hyperphenylalaninemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antioxidants; Catalase; Child; Child, Preschool; Electroencephalography; Erythrocytes; Female; Glutathione Peroxidase; Glutathione Reductase; Humans; Infant; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Superoxide Dismutase; Vitamin E | 1998 |
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydro-Lyases; Infant, Newborn; Male; Mutation; Phenylalanine; Phenylketonurias; Pterins | 1998 |
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Chromosomes, Human, Pair 12; Databases, Factual; Genetic Variation; Haplotypes; Homozygote; Humans; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Quebec | 1998 |
The origin of red blood cell biopterin.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Erythrocytes; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1998 |
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; DNA, Complementary; Gestational Age; Humans; Infant; Infant, Newborn; Japan; Male; Mutation, Missense; Phenylalanine; Phosphorus-Oxygen Lyases; Sequence Analysis, DNA | 1999 |
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Dihydropteridine Reductase; Genotype; Humans; Phenotype; Phenylalanine; Phenylketonurias | 2000 |
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Black People; Chromatography, High Pressure Liquid; Dose-Response Relationship, Drug; Escherichia coli; Exons; Family Health; Humans; Kinetics; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Genetic; Recombinant Proteins | 2001 |
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 |
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Fibroblasts; Humans; Hydroxyindoleacetic Acid; Infant; Liver; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1978 |
Abnormal amino acid metabolism and brain protein synthesis during neural development.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Humans; Leucine; Lipid Metabolism; Methionine; Myelin Sheath; Nerve Tissue Proteins; Nervous System; Neurotransmitter Agents; Phenethylamines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polyribosomes; Pyruvate Kinase; RNA, Transfer, Amino Acyl; Serotonin | 1978 |
Malignant hyperphenylalaninaemia--current status (June 1977).
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Pteridines | 1978 |
The enzymes of the hepatic phenylalanine hydroxylating system.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Dihydropteridine Reductase; Humans; Kinetics; Liver; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1978 |
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Deuterium; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Isotope Labeling; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1979 |
Dietary restriction in inborn errors of amino acid metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Serum tyrosine within the first hour after an oral load of phenylalanine.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Humans; Infant; Male; Middle Aged; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
Hypertyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Phenylalanine; Tyrosine | 1977 |
Amino acid transport properties of erythrocytes from normal newborn lambs and lambs with an inherited defect in amino acid transport.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Animals, Newborn; Arginase; Arginine; Erythrocytes; Glutathione; Lysine; Ornithine; Phenylalanine; Sheep | 1978 |
[Experience with diagnosing phenylalanine metabolism prior to marriage (author's transl)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Czechoslovakia; Eugenics; Female; Genetic Counseling; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias | 1978 |
Dietary treatment of tyrosinemia type I: importance of methionine restriction.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet; Dietary Proteins; Female; Humans; Infant; Infant Food; Methionine; Oxygenases; Phenylalanine; Tyrosine | 1978 |
[Abnormalities in amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Phenylalanine; Tyrosine | 1978 |
Enzyme abnormalities in man and the role of their identification in preventive medicine.
Topics: Amino Acid Metabolism, Inborn Errors; Clinical Enzyme Tests; Cystathionine; Homogentisic Acid; Humans; Metabolism, Inborn Errors; Phenylalanine; Propionates | 1976 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glutathione; Glycine; Glycogen Storage Disease Type II; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nerve Tissue Proteins; Nervous System Diseases; Phenylalanine; Phenylketonurias | 1976 |
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Citrulline; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Lysine; Male; Methionine; Phenylalanine; Threonine; Tryptophan; Valine | 1977 |
Phenylalanine-tyrosine deficiency syndrome as a complication of the management of hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Infant; Liver Cirrhosis; Male; Phenylalanine; Tyrosine | 1977 |
[Phenylalanine metabolites in the urine after oral phenylalanine loading. Significance for the discrimination between classical phenylketonuria and variations of hyperphenylalaninemia (heterozygotes and homozygotes)].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genetic Variation; Heterozygote; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1977 |
[Screening test for hyperphenylalaninemias and tyrosinemias : fluorometric micromethods for quantitative determination of phenylalanine and tyrosine by means of the same auto-analyzer system].
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Fluorometry; Humans; Indicators and Reagents; Infant, Newborn; Phenylalanine; Tyrosine | 1977 |
Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.
Topics: Amino Acid Metabolism, Inborn Errors; Electrophoresis; Humans; Methotrexate; Phenylalanine; Phenylketonurias; Pterins; Xanthine Oxidase; Xanthopterin | 1977 |
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Histidine; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1977 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
[Letter: Hyperphenylalaninemia induced by pyrimethamine].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylalanine Hydroxylase; Pyrimethamine | 1976 |
Hyperphenylalaninemias and tyrosinemias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1976 |
[Clinical diagnosis of hyperphenylalaninemia in the newborn infant and infant stages].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Phenylketonurias | 1976 |
Detection of heterozygotes for phenylketonuria and hyperphenylaianinemia by gas-chromatographic analysis of aromatic acid excretion in urine.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Female; Heterozygote; Humans; Male; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1975 |
Gas-liquid chromatography of phenylalanine and its metabolites in serum and urine of various hyperphenylalaninemic subjects, their relatives, and controls.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Lactates; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1975 |
[Phenylalanine hydroxylase activity in the liver as a parameter for distinguishing various forms of hyperphenylalaninemias (author's transl)].
Topics: Adolescent; Adult; Amines; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Liver; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1975 |
Urinary phenolic acid and alcohol excretion in the newborn.
Topics: Alcohols; Amino Acid Metabolism, Inborn Errors; Bilirubin; Birth Weight; Catecholamines; Creatinine; Dopamine; Epinephrine; Female; Gestational Age; Homovanillic Acid; Humans; Infant, Newborn; Infant, Premature; Jaundice, Neonatal; Male; Norepinephrine; Phenols; Phenylalanine; Tyrosine; Vanilmandelic Acid | 1975 |
Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of an infant with the acute form of the disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Kidney; Liver; Male; Methionine; Pancreas; Phenylalanine; Tyrosine | 1976 |
[Protein tolerance test in the differential diagnosis of inborn errors amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Dietary Proteins; Humans; Infant; Phenylalanine; Phenylketonurias; Proteins | 1976 |
Effect of cotrimoxazole on the response to phenylalanine loading in man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Drug Combinations; Female; Glomerular Filtration Rate; Heterozygote; Humans; Kidney; Male; Middle Aged; Phenylalanine; Phenylketonurias; Sulfamethoxazole; Time Factors; Trimethoprim; Tyrosine; Urine | 1976 |
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 |
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; DNA; Exons; Female; Genetic Testing; Haplotypes; Humans; Infant, Newborn; Kinetics; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Sweden | 1992 |
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Cell Line; Codon; Exons; Female; France; Genotype; Humans; Isoleucine; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Polymerase Chain Reaction; Quebec; Threonine; Transfection | 1992 |
[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Phenylalanine; Tyrosine | 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 |
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child; Child, Preschool; Cyclohexanones; Erythrocytes; Heptanoates; Humans; Hydroxybenzoates; Infant; Kidney Tubules; Liver; Nitrobenzoates; Phenylalanine; Phosphates; Porphobilinogen Synthase; Proteinuria; Tyrosine | 1992 |
[Inherited metabolic aberration of phenylalanine in the family members of patients with essential hypertension and stroke].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cerebrovascular Disorders; Family Health; Female; Gas Chromatography-Mass Spectrometry; Humans; Hypertension; Male; Middle Aged; Phenylalanine | 1991 |
The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diseases in Twins; Female; Glutarates; Humans; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Phenylalanine; Proteins; Valerates | 1990 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Europe; Female; Genetic Carrier Screening; Haplotypes; Humans; Infant, Newborn; Israel; Male; Mutation; Pedigree; Phenylalanine; Phenylketonurias; Polymerase Chain Reaction | 1991 |
Simultaneous determination of urinary creatinine and aromatic amino acids by cation-exchange chromatography with ultraviolet detection.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cations; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Creatinine; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1991 |
Outcome in tyrosinaemia type II.
Topics: Amino Acid Metabolism, Inborn Errors; Child Development; Child, Preschool; Conjunctivitis; Humans; Infant; Infant, Newborn; Intelligence; Male; Phenylalanine; Tyrosine | 1991 |
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Haplotypes; Humans; Phenylalanine; Phenylalanine Hydroxylase | 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 |
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Follow-Up Studies; GTP Cyclohydrolase; Humans; Infant, Newborn; Male; Phenylalanine; Pregnancy; Prenatal Diagnosis; Pterins | 1990 |
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carboxy-Lyases; Cells, Cultured; Chorionic Villi; Female; Humans; Methylmalonyl-CoA Decarboxylase; Phenylalanine; Pregnancy; Prenatal Diagnosis; Propionates | 1990 |
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values | 1990 |
Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heme; Heptanoates; Heptanoic Acids; Humans; Infant; Methionine; Phenylalanine; Tyrosine | 1990 |
The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Disease Models, Animal; Ethylnitrosourea; Female; Humans; Male; Mice; Mice, Mutant Strains; Mutation; Phenotype; Phenylalanine; Phenylketonurias | 1990 |
Cranial computerized tomography in dihydropteridine reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Basal Ganglia Diseases; Brain Diseases; Calcinosis; Developmental Disabilities; Female; Humans; Infant; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1985 |
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 |
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia.
Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Humans; Isoleucine; Kinetics; Leucine; Malonates; Methionine; Methylmalonic Acid; Phenylalanine; Threonine; Time Factors; Valine | 1989 |
DHPR activity decrease in dried blood spots stored at 4 degrees C.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Cold Temperature; Desiccation; Dihydropteridine Reductase; Enzyme Stability; Humans; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Reference Values | 1989 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1988 |
Biochemical and nutritional status of children with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Nutritional Status; Phenylalanine; Phenylketonurias | 1988 |
Outcome of the patients detected by newborn screening in Japan.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Humans; Infant, Newborn; Japan; Male; Mass Screening; Phenylalanine | 1988 |
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pterins | 1988 |
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Erythrocytes; Female; Genetic Variation; Heterozygote; Humans; Infant; Infant, Newborn; Male; Phenotype; Phenylalanine; Phosphorus-Oxygen Lyases; Pterins | 1987 |
hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromosome Mapping; Crosses, Genetic; Ethylnitrosourea; Female; Genetic Linkage; Genotype; Male; Mice; Mice, Inbred Strains; Mice, Mutant Strains; Mutation; Pedigree; Phenotype; Phenylalanine | 1988 |
[Trial of indirect screening of tetrahydrobiopterin deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
[Limitations of the classification and nomenclature of hyperphenylalaninemia].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Humans; Intelligence; Phenylalanine; Phenylalanine Hydroxylase | 1987 |
[Measurement in samples of dry blood of dihydropteridine reductase and ratio of total biopterin in hyperphenylalaninemia and other neurological diseases].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopterins; Brain Diseases, Metabolic; Child; Child, Preschool; Dihydropteridine Reductase; Evaluation Studies as Topic; Humans; Infant; Infant, Newborn; NADH, NADPH Oxidoreductases; Phenylalanine; Reagent Strips | 1987 |
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-Mass Spectrometry; Humans; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
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 |
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 |
Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper-dried capillary blood of healthy children and adults, and patients with hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Capillaries; Child; Child, Preschool; Chromatography; Humans; Middle Aged; Phenylalanine; Reference Values; Veins | 1985 |
Neurometabolic effects of an inborn error of amino acid metabolism demonstrated in vivo by 1H NMR.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Chemistry; Female; Histidine; Humans; Magnetic Resonance Spectroscopy; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias; Spectrum Analysis | 1986 |
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Male; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1985 |
Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Epitopes; Genes; Genes, Regulator; Humans; Immunodiffusion; Kinetics; Liver; Lysophosphatidylcholines; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Sheep; Tyrosine | 1972 |
Inherited metabolic disease.
Topics: Albumins; Amino Acid Metabolism, Inborn Errors; Chromatography; Clinical Laboratory Techniques; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; Galactosemias; Genetic Counseling; Humans; Hyperlipidemias; Infant; Infant, Newborn; Iron; Mass Screening; Meconium; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1974 |
[Diagnostic methods for the detection of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Blood Protein Electrophoresis; Chemistry, Clinical; Chromatography; Clinical Enzyme Tests; Colorimetry; Fluorometry; Histidine; Humans; Leucine; Mass Screening; Metabolic Diseases; Methionine; Methods; Microbial Sensitivity Tests; Organization and Administration; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
The aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Clone Cells; Culture Techniques; Female; Fibroblasts; Galactosemias; Genes, Recessive; Heterozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Sex Factors | 1972 |
The use of animal models for the study of aminoacidopathies.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Damage, Chronic; Cricetinae; Disease Models, Animal; Enzyme Precursors; Haplorhini; In Vitro Techniques; Nerve Tissue Proteins; Phenylalanine; Phenylalanine Hydroxylase; Phenylpyruvic Acids; Rats | 1972 |
[Examination technics in metabolic brain damage with special reference to thin-layer chromatography].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain Damage, Chronic; Child; Chromatography, Thin Layer; Down Syndrome; Female; Humans; Infant; Male; Maple Syrup Urine Disease; Mass Screening; Methods; Phenylalanine; Phenylketonurias | 1971 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis".
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Cystathionine; Dietary Carbohydrates; Female; Fructose-1,6-Diphosphatase Deficiency; Fructose-Bisphosphatase; Humans; Infant; Lactates; Methionine; Phenylalanine; Sucrose; Tyrosine | 1974 |
Biochemical observations on so-called hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy; Diet Therapy; Female; Hepatomegaly; Humans; Hydro-Lyases; Infant; Infant, Newborn; Liver; Male; Methionine; Mixed Function Oxygenases; Phenotype; Phenylalanine; Phosphates; Splenomegaly; Transferases; Tyrosine; Tyrosine Transaminase | 1970 |
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine | 1974 |
Thin-layer chromatographic screening of amino acids in plasma and urine of newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Blood Proteins; Chromatography, Thin Layer; Female; Glycine; Homocysteine; Humans; Indicators and Reagents; Infant, Newborn; Infant, Premature; Lysine; Methionine; Phenylalanine; Pregnancy; Proteinuria; Tyrosine; Ultrafiltration | 1974 |
Letter: Dietary phenylalanine requirements in infants with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Nutritional Physiological Phenomena; Nutritional Requirements; Phenylalanine; Phenylketonurias | 1974 |
Gas-liquid chromatography of phenylalanine metabolites in urine and sera of hyperphenylalaninemic and phenylketonuric patients.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, Gas; Humans; Hydrogen-Ion Concentration; Lactates; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors; Tyrosine | 1974 |
Phenylalaninaemia. Differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Diagnosis, Differential; Diet Therapy; Dietary Proteins; Electroencephalography; Humans; Infant, Newborn; Mass Screening; Methods; Phenylacetates; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1974 |
[Tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Humans; Phenylalanine; Time Factors; Tyrosine | 1974 |
[Value of the assay of urine ortho-hydroxyphenylacetic acid in hyperphenylalaninemia].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Thin Layer; Creatinine; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1974 |
Biochemical studies in a patient with "tyrosinosis".
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Male; Phenols; Phenylalanine; Tyrosine | 1974 |
[Problems in the detection of hereditary diseases studied in the light of frequent examples].
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography; Clinical Enzyme Tests; Escherichia coli; Fluorometry; Genetic Diseases, Inborn; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Urine | 1972 |
[Phenylalanine concentration in the intestinal fluid of hyperphenylalaninemic patient].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Intestinal Absorption; Intestinal Secretions; Phenylalanine; Tyrosine | 1973 |
[Tyrosinosis. Primary and secondary biochemical changes].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Glucagon; Glucose; Humans; Hypoglycemia; Infant; Infant, Newborn; Liver Function Tests; Methionine; Phenylalanine; Phosphates; Protein Biosynthesis; Rickets; Statistics as Topic; Thrombocytopenia; Time Factors; Tyrosine; Vomiting | 1972 |
Pathogenesis of phenylketonuria: inhibition of DOPA and catecholamine synthesis in patients with phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Catecholamines; Catechols; Child; Child, Preschool; Deuterium; Dihydroxyphenylalanine; Dopamine; Glycols; Homovanillic Acid; Humans; Mass Spectrometry; Phenylalanine; Phenylketonurias; Tyrosine; Vanilmandelic Acid | 1972 |
[Methionine toxicity. 5. Amino acid content of blood serum and urine after high doses of methionine and gaseous elimination of 35S from 35S methionine].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Glutathione; Glycine; Histidine; Lysine; Methionine; Phenylalanine; Rats; Sulfur Isotopes; Taurine; Threonine; Time Factors; Tyrosine | 1972 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines; Tetrahydrofolate Dehydrogenase | 1972 |
Clinical significance of tyrosinemia of prematurity.
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Child Development; Chromatography, Paper; Diet Therapy; Fatigue; Feeding Behavior; Female; Growth Disorders; Humans; Infant, Newborn; Infant, Premature, Diseases; Intelligence; Intelligence Tests; Phenylalanine; Pregnancy; Pregnancy Complications; Tyrosine | 1973 |
[Blood histidine and phenylketonuria from the standpoint of the speech therapist].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Speech Disorders; Time Factors | 1973 |
Urinary phenylalanine excretion in hyperphenylalaninemic children.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Anomalous phenylalanine loading responses in relation to cleft lip and cleft palate.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Chromosomes, Human, 13-15; Cleft Lip; Cleft Palate; Female; Humans; Infant, Newborn; Karyotyping; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Trisomy; Tyrosine | 1973 |
Folic acid administration to children with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Folic Acid; Humans; Male; Phenylalanine; Spectrometry, Fluorescence; Tyrosine | 1973 |
[Hyperphenylalaninemia in the neonatal period].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Diet; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy | 1973 |
Screening for hyperaminoacidemias in newborns by thin-layer chromatography on DEAE-cellulose.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Belgium; Chromatography, DEAE-Cellulose; Chromatography, Thin Layer; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Mass Screening; Methods; Phenylalanine; Tyrosine; Valine | 1973 |
Dietary requirement of phenylalanine in infants with hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant; Nutritional Requirements; Phenylalanine | 1973 |
Genetic screening: notes added in proof.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates | 1973 |
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Tyrosinosis.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Chronic Disease; Humans; Infant; Phenylalanine; Time Factors; Tyrosine | 1973 |
Fluorometric measurement of tyrosine in serum and plasma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Blood Proteins; Child; Child, Preschool; Drug Stability; Evaluation Studies as Topic; Humans; Infant; Infant, Newborn; Infant, Premature; Methods; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence; Temperature; Time Factors; Tyrosine | 1974 |
[A screening test for phenylketonuria using a paper chromatography method].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias | 1974 |
[Hyperphenylalaninemia and banal infections].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Male; Phenylalanine; Respiratory Tract Infections; Urinary Tract Infections | 1974 |
Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Female; Homovanillic Acid; Humans; Infant; Infant, Newborn; Male; Mandelic Acids; Mass Spectrometry; Phenols; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpropionates; Phenylpyruvic Acids | 1974 |
[Early detection of inborne errors of metabolism in Switzerland: the problems of hyperphenylanalinemia (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Switzerland; Time Factors | 1974 |
[Experimental hyperphenylalanaemic animals and cystathionine contents in brain tissues].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Brain Chemistry; Diet; Dipeptides; Disease Models, Animal; Haplorhini; Hydro-Lyases; L-Serine Dehydratase; Male; Metabolic Diseases; Mixed Function Oxygenases; Phenylacetates; Phenylalanine; Phenylpyruvic Acids; Rats; Swine; Tyrosine | 1970 |
Phenylalanine tolerance tests in simian primates.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Ion Exchange; Haplorhini; Monkey Diseases; Phenylalanine; Stereoisomerism; Tyrosine | 1971 |
[Hyperphenylalaninemia and other hyperaminoacidurias with mental retardation, detected by multiple screening].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Tyrosine | 1972 |
The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Deuterium; Humans; Hydroxylation; Infant; Lactates; Mass Spectrometry; Methods; Phenols; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1972 |
Hereditary tyrosinemia: metabolic studies in a patient with partial p-hydroxyphenylpyruvate hydroxylase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Catecholamines; Diet Therapy; Humans; Infant; Kidney Tubules; Levulinic Acids; Liver; Male; Mixed Function Oxygenases; Phenylalanine; Tyrosine | 1972 |
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine; Humans; Hyperlipidemias; Infant, Newborn; Mass Screening; Methionine; Midwifery; Phenylalanine; Phenylketonurias; Postal Service; Proline; Time Factors; Tyrosine; United Kingdom | 1972 |
Mental retardation and the biochemistry of the developing brain.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Glycine; Humans; Intellectual Disability; Myelin Sheath; Phenylalanine; Protein Biosynthesis; Rats; Synapses | 1972 |
[Brain protein synthesis in experimental hyperaminoacidemia--an approach to the pathogenesis of mental retardation in inborn errors of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Carbon Isotopes; Chromatography, Thin Layer; Humans; Injections, Intraperitoneal; Intellectual Disability; Leucine; Nerve Tissue Proteins; Phenylalanine; Rats | 1971 |
Diagnosis and management of hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Experience with a screening service, using the Guthrie test, in the north-west and north-east metropolitan regions.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Homocystinuria; Humans; Infant; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Management of hyperphenylalaninaemia (HPA) in Northern Ireland.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Diet Therapy; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
[The use of some recent methods for diagnosis of aminoacidopathy. Personal results].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Electrophoresis; Fanconi Syndrome; Humans; Hydroxyproline; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Urine | 1971 |
[Clinical problems of the genetic heterogeneity in hyperphenylalaninemias].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Diagnosis, Differential; Diet Therapy; Dietary Proteins; Electroencephalography; Female; Humans; Phenylalanine; Phenylketonurias; Protein Deficiency; Tyrosine | 1971 |
Hyperphenylalanaemia and the exchange of tyrosine in adult rat brain.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain; Metabolic Clearance Rate; Nerve Tissue Proteins; Phenylalanine; Protein Binding; Rats; Tritium; Tyrosine | 1971 |
[Routine thin-layer-chromatography in 25000 newborn infants. Comparison with the Guthrie-tests].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Mass Screening; Methionine; Methods; Phenylalanine; Tyrosine | 1971 |
Tyrosinosis: biochemical studies of an unusual case.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, Gas; Chromatography, Paper; Diet; Female; Humans; Intellectual Disability; Phenylalanine; Tyrosine | 1971 |
Amino acid transport and mental retardation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport; Brain; Brain Chemistry; Diet; Female; Fetus; Gestational Age; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Time Factors | 1971 |
The assessment of serum amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Tyrosine | 1970 |
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Tyrosinosis].
Topics: Abdomen, Acute; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Fanconi Syndrome; Genes, Recessive; Humans; Infant; Infant, Newborn; Liver Cirrhosis; Phenylalanine; Rickets; Sepsis; Tyrosine | 1969 |
[Ochronotic arthropathy].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Joint Diseases; Male; Middle Aged; Ochronosis; Phenylalanine; Pigmentation Disorders; Radiography; Tyrosine | 1969 |
Determination of platelet serotonin by a fluorimetric method.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood Platelets; Child; Child, Preschool; Female; Fluorometry; Histidine; Humans; Infant; Male; Methods; Phenylalanine; Phenylketonurias; Serotonin | 1970 |
Dietary treatment of tyrosinosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Diet Therapy; Dietary Proteins; Female; Food Analysis; Formularies as Topic; Humans; Phenylalanine; Tyrosine | 1970 |
[Phenylalanine tolerance tests].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Humans; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
From the Clinical Conference St. Louis Children's Hospital. Phenylketonuria. Diagnostic and therapeutic dilemma.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan; Tyrosine | 1970 |
Inborn errors of metabolism associated with unusual odors.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Malabsorption Syndromes; Maple Syrup Urine Disease; Methionine; Odorants; Phenylalanine; Tryptophan; Valerates | 1970 |
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine | 1970 |
Phenylalaninaemia or classical phenylketonuria (PKU)?
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
Neonatal hyperphenylalaninemia: a differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Prognosis; Transaminases; Tyrosine | 1970 |
Phenylalaninemia or classical phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
Inborn errors of metabolism. Variability within single diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Genes; Genetic Variation; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mutation; Phenylalanine; Phenylketonurias | 1971 |
Cutaneous manifestations of disorders of metabolism of phenylalanine-tyrosine.
Topics: Albinism; Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Pigmentation Disorders; Skin Manifestations; Tyrosine | 1971 |
An improved method for measuring blood concentrations of phenylpyruvic acid.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Borates; Chlorides; Circadian Rhythm; Diagnosis, Differential; Humans; Iron; Male; Methods; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Spectrophotometry; Time Factors; Ultraviolet Rays | 1971 |
A rapid procedure for the determination of phenylalanine and tyrosine from blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Autoanalysis; Chromatography, Ion Exchange; Horses; Hot Temperature; Humans; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Simplified thin layer chromatography screening test for detection of important hyperaminoacidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Isoleucine; Leucine; Mass Screening; Methionine; Methods; Phenylalanine; Tyrosine; Valine | 1971 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Preschool; Creatine; Creatinine; Female; Glutamates; Histidine; Humans; Leucine; Lysine; Male; Methionine; Muscular Dystrophies; Nitrogen; Phenylalanine; Serine; Threonine; Tryptophan; Tyrosine; Valine | 1967 |
[Study of amino-aciduria and amino-acidemia in children by chromato-ionophoresis].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Chromatography; Electrophoresis; Histidine; Humans; Phenylalanine; Tryptophan | 1967 |
Transient tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Phenylketonurias; Terminology as Topic; Tyrosine | 1968 |
Long-term dietary treatment of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Chromatography, Ion Exchange; Chromatography, Paper; Diet Therapy; Glucose; Humans; Infant; Kidney Tubules; Liver; Male; Oxidoreductases; Phenylalanine; Phosphates; Pyruvates; Tyrosine | 1968 |
Disorders of tyrosine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Child, Preschool; Diet Therapy; Humans; Infant; Infant, Newborn; Methionine; Phenylalanine; Tyrosine | 1968 |
Hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Consanguinity; Diet Therapy; Humans; Methionine; Phenylalanine; Phenylhydrazines; Pyruvate Oxidase; Tyrosine | 1968 |
Diagnosis and treatment of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Infant; Liver Function Tests; Phenylalanine; Tyrosine; Vitamin D | 1968 |
Dietary treatment of infantile tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Diet Therapy; Humans; Infant; Liver; Liver Function Tests; Male; Milk; Phenylalanine; Tyrosine | 1968 |
[Difficulties in interpreting a pathological aminoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver Diseases; Male; Methionine; Pancreatitis; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Exertion of delta-aminolevulinic acid in hereditary tyrosinemia.
Topics: Abdomen; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Creatinine; Feces; Female; Humans; Leg; Levulinic Acids; Male; Pain; Paresis; Phenylalanine; Porphyrins; Pyrroles; Tritium; Tyrosine | 1969 |
Recovery after dietary treatment of an infant with features of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Cholestasis; Diet Therapy; Female; Growth Disorders; Humans; Hypophosphatemia, Familial; Infant; Methionine; Phenylalanine; Phosphates; Renal Aminoacidurias; Rickets; Tyrosine | 1969 |
Results of mass screening for hyperaminoacidemias in the newborn infant.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Methionine; Methods; Phenylalanine; Tyrosine | 1969 |
Hereditary tyrosinemia. 3. On the differential diagnosis and the lack of effect of early dietary treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Chromatography, Gas; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Liver Cirrhosis; Male; Phenylalanine; Time Factors; Tyrosine | 1969 |
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child, Preschool; Glutamates; Glycine; Histidine; Humans; Isoleucine; Leucine; Lysine; Male; Muscular Dystrophies; Peptides; Phenylalanine; Serine; Threonine; Tyrosine; Valine | 1969 |
Studies on the metabolism of the phenolic acids in hereditary tyrosinemia by a gas-liquid chromatographic method.
Topics: Acids; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Gas; Female; Humans; Infant; Male; Methods; Phenols; Phenylacetates; Phenylalanine; Phenylpyruvic Acids; Tyrosine | 1969 |
Aminoacidemia of prematurity. Its response to ascorbic acid.
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Birth Weight; Blood; Female; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Infant, Premature, Diseases; Male; Phenylalanine; Tyrosine; Urine | 1966 |