tyrosine has been researched along with Amino Acid Metabolism Disorders, Inborn in 616 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 426 (69.16) | 18.7374 |
| 1990's | 173 (28.08) | 18.2507 |
| 2000's | 7 (1.14) | 29.6817 |
| 2010's | 5 (0.81) | 24.3611 |
| 2020's | 5 (0.81) | 2.80 |
| Authors | Studies |
|---|---|
| Angeloni, A; Carducci, C; Di Carlo, E; Leuzzi, V; Manti, F; Santagata, S; Sauro, L; Tolve, M | 1 |
| Du, CQ; Jin, SJ; Luo, XP | 1 |
| Brennenstuhl, H; Feyh, P; Garbade, SF; Gramer, G; Hoffmann, GF; Kohlmüller, D; Kölker, S; Okun, JG; Opladen, T; Syrbe, S | 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 |
| Blau, N; Burlina, A; Burlina, AP; Cazzorla, C; Giuliani, A; Gragnaniello, V; Gueraldi, D; Hoffmann, G; Opladen, T; Polo, G | 1 |
| Amaral, AU; da Silva, JC; de Oliveira, FH; Leipnitz, G; Ribeiro, RT; Santamaría, A; Seminotti, B; Souza, DO; Vargas, CR; Wajner, M | 1 |
| Bobinski, F; da Silva Fiorin, F; de Oliveira Ferreira, AP; de Oliveira, CV; Della-Pace, ID; Dos Santos, AR; Duarte, MM; Fighera, MR; Funck, VR; Furian, AF; Nogueira, CW; Oliveira, MS; Pinton, S; Ribeiro, LR; Royes, LF | 1 |
| Chen, PW; Chien, YH; Hwu, WL; Lee, NC; Wang, PC; Wu, JY | 1 |
| Chao, MC; Chen, PW; Chien, YH; Chiu, PC; Chu, SY; Hsieh, WS; Hwu, WL; Jong, YJ; Lee, NC; Lin, SP; Tsai, FJ | 1 |
| Bratkovic, D; Couper, R; Davidson, GP; Fahy, R; Fletcher, JM; Mackay, RJ; Ranieri, E | 1 |
| Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E | 1 |
| Jirosová, J; Kand'ár, R; Sladká, M; Záková, P | 1 |
| Biancini, GB; Mescka, C; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M; Wayhs, CY | 1 |
| Aydin, OF; Eken, A; Kunak, B; Tezic, T; Zorlu, P | 1 |
| AMMON, R; HENNING, U | 1 |
| BERNARD, R; BOISSIERE, H; MAESTRAGGI, P; ROUSSEL, A; ROYER, P | 1 |
| BERGER, H | 1 |
| ZETTERSTROEM, R | 1 |
| BERMAN, JL; BRENCHLEY, Y; HSIA, DY; JUSTICE, P | 1 |
| GJESSING, LR; HALVORSEN, S | 1 |
| ALAGILLE, D; GENTIL, C | 1 |
| GJESSING, LR; TANIGUCHI, K | 1 |
| GENTZ, J; JAGENBURG, R; ZETTERSTROEM, R | 1 |
| EFRON, ML | 2 |
| WOOLF, LI | 1 |
| FINCKE, ML | 1 |
| CUPPINI, R | 1 |
| FELIX, K; LEONHARDI, G; von GLASENAPP, I | 1 |
| Chiriboga, CA; Clayton, PT; De Vivo, DC; Ford, B; Hinton, V; Hyland, K; Pons, R; Sharma, R | 1 |
| PESCI, A | 1 |
| André, N; Jubin, V; Ovaert, C; Roquelaure, B | 1 |
| Barnes, GR; Gwinn, JL | 1 |
| Hsia, DY; O'Flynn, ME; Tillman, P | 1 |
| Halvorsen, S | 3 |
| Gentz, J; Levy, L; Lindblad, B; Lindstedt, S; Shasteen, W; Zetterstrom, R | 1 |
| Donnell, GN; Kogut, MD; Shaw, KN | 1 |
| Larochelle, J; Scriver, CR; Silverberg, M | 1 |
| Gerald, PS | 1 |
| Avery, ME; Clow, CL; Menkes, JH; Ramos, A; Scriver, CR; Stern, L; Wasserman, BP | 1 |
| Scriver, CR | 3 |
| Efron, ML; Mechanic, GL; Shih, VE | 1 |
| Aubin, G; Belanger, M; Claveau, JC; Larochelle, J; Mortezai, A; Tremblay, M | 1 |
| Prive, L | 1 |
| Clow, CL; Scriver, CR; Silverberg, M | 1 |
| Ficici, S; Fraser, D; Jackson, SH; Kooh, SW; Paunier, L; Sass-Kortsak, A | 3 |
| Haust, MD; Partington, MW | 1 |
| Du, BN | 1 |
| Dallaire, L | 1 |
| Coward, RF; Smith, P | 1 |
| Dallaire, L; Laberge, C | 1 |
| Komrower, GM; Lambert, AM; Wong, PW | 1 |
| Allan, L; Dakshinamurti, K; deGroot, GW; Haworth, JC | 1 |
| Goldsmith, LA; Marsh, RF; Thorpe, JM | 1 |
| Grossman, H; Kirks, DR; Merten, DF | 1 |
| Fujisawa, Y; Kida, K; Machino, H; Matsuda, H; Miki, Y; Takahashi, M | 1 |
| Endo, F; Kitano, A; Kuhara, T; Matsuda, I; Matsumoto, I; Nagata, N; Shinka, T; Uehara, I | 2 |
| King, GS; MacKenzie, F; Pettit, BR | 1 |
| Lee, EB | 1 |
| Furukawa, N; Imashuku, S; Inoue, F; Ishii, T; Kinugasa, A; Kusunoki, T; Machida, Y; Ota, T; Seo, T; Takamatsu, T | 1 |
| Andersson, S; Nemeth, A; Ohisalo, J; Strandvik, B | 1 |
| Goldsmith, LA | 5 |
| de Prost, Y; Dufier, JL; Gounod, N; Larrègue, M; Ogier, H; Saudubray, JM | 1 |
| Baden, HP; Hooker, PA | 1 |
| Haddow, JE; Hostetter, MK; Knight, GJ; Levy, HL; Winter, HS | 1 |
| Knight, JA; Robertson, G; Wu, JT | 1 |
| Kawatsu, T; Kida, K; Machino, H; Matsuda, H; Miki, Y | 1 |
| Benevenga, NJ; Steele, RD | 1 |
| Boccon-Gibod, L; Brissaud, HE; Buffe, D; Costil, J; Garel, L; Gruner, M; Taïeb, B | 1 |
| Mowat, AP | 2 |
| Magee, PN; Nyce, J; Weinhouse, S | 1 |
| King, GS; Leonard, JV; MacKenzie, F; Pettit, BR | 1 |
| Furukawa, N; Hayano, T; Imashuku, S; Inoue, F; Kinugasa, A; Kusunoki, T; Machida, Y; Sato, N; Takamatisu, T | 1 |
| Hunziker, N | 1 |
| Rehák, A; Selim, MM; Yadav, G | 1 |
| Binder, PS; Charlton, KH; Digby, DJ; Wozniak, L | 1 |
| Jyothy, A; Reddy, PP | 1 |
| Billson, FA; Colditz, PB; Molloy, HF; O'Halloran, M; Rogers, M; Wilcken, B; Yu, JS | 1 |
| Evans, DI; Sardharwalla, IB | 1 |
| Gramet, C; Lods, F | 1 |
| Blau, K; Harvey, DR; Levitt, GA | 1 |
| Gagné, R | 1 |
| Halvorsen, S; Jellum, E; Kvittingen, EA | 1 |
| Berger, R; Smith, GP; van Faassen, H | 1 |
| Gitzelmann, R; Kvittingen, EA; Steinmann, B; Stokke, O | 1 |
| Buchman, M; Jehan, P; Odièvre, M | 1 |
| Bowers, LD; Fregien, KD; Krivit, W; Ramnaraine, ML; Tuchman, M; Whitley, CB | 1 |
| Gray, RG; Patrick, AD; Preston, FE; Whitfield, MF | 1 |
| Meister, A; Wellner, D | 1 |
| François, J | 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 |
| Becker, K | 1 |
| Alm, J; Larsson, A; Rosenqvist, U | 1 |
| Kappas, A; Sassa, S | 2 |
| Bhaskar, PA; Neelakandan, B | 1 |
| Assensio, AM; Cascone, C; Fracassi, A; Giardini, O; Lubrano, R; Parisi, SG | 1 |
| Thiel, HJ; Weidle, E | 1 |
| Berger, R; Bruinvis, L; Cartigny, B; Divry, P; Duran, M; Farriaux, JP; Ketting, D; Leonard, JV; Smit, GP; Steinmann, B; van Sprang, FJ; Wadman, SK | 1 |
| Rabinowitz, JG | 1 |
| Ivanova, VD; Makhonova, LA; Raushenbakh, MO; Sergeev, AV; Shevchenko, VE | 1 |
| Milner, RD; Wirdnam, PK | 1 |
| Coradello, H; Königshofer, H; Lubec, G; Scheibenreiter, S; Thalhammer, O | 1 |
| Gagné, R; Grenier, A; Laberge, C; Lescault, A; Mamer, O | 1 |
| Gagné, R; Grenier, A; Laberge, C; Lescault, A | 2 |
| Endo, F; Kitano, A; Matsuda, I; Nagata, N; Origuchi, Y | 1 |
| Lindblad, B; Steen, G | 1 |
| De Giacomoni, P; Larrègue, M; Odièvre, P; Prigent, F | 1 |
| Fällström, SP; Lindblad, B; Steen, G | 1 |
| Berger, R; Duran, M; Ketting, D; Smit, GP; Stoker-de Vries, SA; Wadman, SK | 1 |
| Bohane, T; Halpern, B; Hammond, JW; Hocart, C; Howard, N; Wilcken, B | 1 |
| Jellum, E; Kvittingen, EA; Stokke, O | 1 |
| Baekmark, UB; Brandt, NJ; Christensen, E; Gregersen, N; Hjeds, H; Jacobsen, BB; Pedersen, JB | 1 |
| Gaulme, J; Lesec, G; Malpuech, G; Mattei, JF; Palcoux, JB; Vanlieferinghen, P | 1 |
| Akai, K; Kobayashi, M; Nakamura, T | 1 |
| Goldberg, A; McColl, KE | 1 |
| Hertel, J | 1 |
| Celli, M; D'Eufemia, PD; Finocchiaro, R; Giardini, O; Viozzi, L | 1 |
| Kvittingen, EA | 3 |
| Ajdukiewicz, AB; Bélanger, L; Kelleher, PC; Koff, RS; Krawitt, EL; Mason, PB; Walters, CJ | 1 |
| Heikinheimo, M; Holmberg, C; Kuusela, P; Pitkänen, S; Salo, MK; Simell, O | 1 |
| al-Dhalimy, M; Finegold, M; Grompe, M; Kennaway, NG; Lindstedt, S; Ou, CN; Papaconstantinou, J; Torres-Ramos, CA | 1 |
| Brantly, M; Gahl, WA; Hahn, SH; Krasnewich, D; Kvittingen, EA | 1 |
| Heymans, HS; Smit, GP; Thomasse, Y; van Spronsen, FJ; Visser, G; Wijburg, FA | 1 |
| Berger, R; Bijleveld, CM; Koetse, HA; Reijngoud, DJ; Reitsma, WC; Slooff, MJ; Smit, GP; van Spronsen, FJ; Wijburg, FA | 1 |
| Bird, S; Collins, JE; Miller, NJ; Rice-Evans, CA | 1 |
| Castro, M; Díaz, M; Gangoiti, J; García, MJ; Medina, E; Merinero, B; Pérez-Cerdá, C; Sanz, P; Ugarte, M | 1 |
| Fernández-Cañón, JM; Peñalva, MA | 1 |
| Boujet, C; Buist, N; Davidson-Mundt, A; Hudgins, L; Levy, HL; Mudd, SH; Nagao, M; Oyanagi, K; Tangerman, A; Wilson, WG | 1 |
| Auton, TR; Ellis, MK; Gowans, LA; Lock, EA; Provan, WM; Smith, LL; Whitfield, AC | 1 |
| Holmberg, C; Kärkkäinen, J; Krogerus, L; Laine, J; Salo, MK; Wahlroos, O | 1 |
| Gray, RG; Green, A; Lloyd, AJ | 1 |
| al-Hazzaa, SA; al-Hemidan, AI | 1 |
| de la Vega, A; Diaz, MC; Gamez, M; Jara, P; Lopez Santamaria, M; Murcia, FJ; Tovar, J; Vazquez, J | 1 |
| Lavine, JE; Romero, R | 1 |
| Beringer, A; Flandin-Blety, C; Hubert, P; Jan, D; Jouvet, P; Lacaille, F; Laurent, J; Niaudet, P; Poggi, F; Rabier, D | 1 |
| al-Dhalimy, M; Grompe, M | 2 |
| Laframboise, R; Leclerc, B; Phaneuf, D; Poudrier, J; St-Louis, M; Tanguay, RM | 1 |
| Awata, H; Endo, F; Katoh, H; Matsuda, I | 1 |
| Baverel, G; Cochat, P; Guibaud, P | 1 |
| Anderson, CE; Kaplan, P; Mazur, A; Rabinowitz, LG; Williams, LR | 1 |
| Demers, SI; Phaneuf, D; Tanguay, RM | 1 |
| Berger, R; Jansen, RP; Ploos van Amstel, JK; van den Berg, IE; Verjaal, M | 1 |
| Berger, R; Brandtzaeg, P; Kvittingen, EA; Rootwelt, H | 1 |
| Berger, R; Coşkun, T; Gray, G; Kelly, DA; Kvittingen, EA; Rootwelt, H | 1 |
| Berger, R; Brodtkorb, E; Chou, J; Coşkun, T; Gahl, WA; Kvittingen, EA; Rootwelt, H | 1 |
| al-Dhalimy, M; Demers, SI; Grompe, M; Leclerc, B; St-Louis, M; Tanguay, RM | 1 |
| Bailey, S; Barnes, ND; Clayton, P; Jamieson, N; Noble-Jamieson, G; Ryalls, M | 1 |
| Berger, R; Høie, K; Kristensen, T; Kvittingen, EA; Rootwelt, H | 1 |
| Farag, TI | 1 |
| Holmberg, C; Jalanko, H; Laine, J; Sarna, S; Sipilä, I | 1 |
| De Dreuzy, O; De Victor, D; Dubousset, AM; Gauthier, F; Huault, G; Lababidi, A; Lambert, T; Valayer, J; Yandza, T | 1 |
| Beukeveld, GJ; Bijsterveld, K; Schierbeek, H; Smit, GP; van Faassen, H; van Spronsen, FJ; Venekamp-Hoolsema, EE; Wolthers, BG | 1 |
| Biasucci, G; Giuffré, B; La Grutta, S; Riva, E | 1 |
| Bensoussan, AL; Blanchard, H; Bruneau, N; LaBerge, JM; Luks, FI; St-Vil, D | 1 |
| Bensoussan, AL; Blanchard, H; Laberge, JM; Lallier, M; Luks, FI; St-Vil, D | 1 |
| Holdener, BC; Magnuson, T | 1 |
| Holmberg, C; Laine, J; Leclerc, B; Salo, MK; St-Louis, M; Tanguay, RM | 1 |
| Alawi, AA; Alawi, MA; Ramadan, H | 1 |
| Kato, M; Koeda, T; Suzuki, N | 1 |
| Heubi, JE | 1 |
| Bensoussan, AL; Blanchard, H; Hancock, BJ; Laberge, JM; Lambert, M; Luks, FI; Mitchell, G; Russo, P; St-Vil, D | 1 |
| Bensoussan, AL; Blanchard, H; Guttman, FM; Laberge, JM; Lallier, M; Luks, FI; St-Vil, D | 1 |
| Lam, AH; Ong, J; Villanueva, AC | 1 |
| Bergoend, H; Delaporte, E; le Flohic, X; Piette, F; Podglajen-Wecxsteen, O | 1 |
| Labelle, Y; Leclerc, B; Phaneuf, D; Tanguay, RM | 1 |
| Berger, R; Heinze, E; Leupold, D; Mönch, E; Pohlandt, F; Teller, W; Wabitsch, M | 1 |
| Brett, EM; Clayton, PT; Gibbs, TC; Holme, E; Lindstedt, S; Payan, J | 1 |
| Labelle, Y; Puymirat, J; Tanguay, RM | 1 |
| Beri, R; Chandra, R | 1 |
| Bergan, A; Berger, R; Brandtzaeg, P; Kvittingen, EA; Rootwelt, H | 1 |
| Saraiva, JM; Seakins, JW; Smith, I | 1 |
| el-Badramany, MH; Farag, TI; Fawzy, AR | 1 |
| Berger, R; Bergman, AJ; Kvittingen, EA; Peelen, T; Ploos van Amstel, JK; Poll-The, BT; Roijers, JF; van Beurden, EA; van den Berg, IE | 1 |
| Owada, M | 1 |
| Wilson, JM | 1 |
| Al-Dhalimy, M; Brantly, M; Finegold, M; Grompe, M; Ou, CN; Overturf, K; Tanguay, R | 1 |
| Kane, PA; Karani, JB; Meili-Vergani, G; Williams, R | 1 |
| Cederbaum, S; Gagné, R; Grenier, A; Jakobs, C; Laberge, C; Tanguay, RM | 1 |
| Grompe, M; Timmers, C | 1 |
| Poudrier, J; St-Louis, M; Tanguay, RM | 1 |
| Bentkowski, Z; Holme, E; Lindstedt, S; Pronicka, E; Rowinska, E; Zawadzki, J | 1 |
| Holme, E; Lindstedt, S | 3 |
| Green, A; Hall, SK; Hutchesson, AC; Preece, MA | 1 |
| Jorquera, R; Poudrier, J; St-Louis, M; Tanguay, RM | 1 |
| Gibson, K; Larochelle, J; Lettre, F; Poudrier, J; Prévost, C; St-Louis, M; Tanguay, RM | 1 |
| Berger, R; Høie, K; Kvittingen, EA; Rootwelt, H | 1 |
| Barnewolt, CE; Buonomo, C; Gallant, JM | 1 |
| Paradis, K | 1 |
| Balistreri, WF; Bezerra, JA | 1 |
| Deutsch, JC; Santhosh-Kumar, CR | 1 |
| Dubois, J; Filiatrault, D; Forget, S; Garel, L; Grignon, A; Paradis, K; Patriquin, H; Russo, P; St-Vil, D | 1 |
| D'Angata, ID; Paradis, K | 1 |
| St-Louis, M; Tanguay, RM | 1 |
| Dom, K; Pittevils, T | 1 |
| Bergman, DJ; Breimer, DD; Duran, M; Mulder, GJ; Mulders, TM; Poll-The, BT; Smeitink, JA; Smit, GP | 1 |
| Hosszú, E; Kálmánchey, R; Klujber, V; Sallai, A; Szönyi, L | 1 |
| Awata, H; Endo, F; Hattori, S; Jakobs, C; Kanegae, Y; Katoh, H; Kiwaki, K; Kubo, S; Matsuda, I; Miyazaki, J; Saito, I; Yamamoto, T | 1 |
| Caruso, U; Cerone, R; Holme, E; Maritano, L; Romano, C; Schiaffino, MC | 1 |
| Berger, R; Mustonen, A; Ploos van Amstel, HK; Salo, MK; Simola, KO; Viinikka, L | 1 |
| Breysem, L; Decoster, J; Jaeken, J; Proesmans, W | 1 |
| Al-Dhalimy, M; Finegold, M; Grompe, M; Manning, K; Ou, CN; Overturf, K | 1 |
| Bausch, E; Boué, J; Coleman, R; Di Rocco, M; Farnetani, M; Fois, A; Hühn, R; Kirk, JM; Klingele, B; Scherer, G; Stoermer, H | 1 |
| Endo, F | 7 |
| Higashi, S; Inoue, T; Kato, H; Kimura, A; Kondo, KH; Kurosawa, T; Nishiyori, A; Okuda, KI; Setoguchi, T; Suzuki, M; Tohma, M; Yoshino, M | 1 |
| Berger, R; Bergman, AJ; Brink, W; Ploos van Amstel, JK; Poll-The, BT; van den Berg, IE | 1 |
| de Koning, TJ; Kerckaert, I; Poll-The, BT; Roels, F | 1 |
| Endo, F; Jakobs, C; Kubo, S; Matsuda, I; Miyahara, M; Sun, M; Umeyama, K; Urakami, K; Yamamoto, T | 1 |
| Endo, F; Fujisawa, T; Inoue, T; Kagimoto, S; Kato, H; Kimura, A; Kurosawa, T; Suzuki, M; Tohma, M | 1 |
| Larochelle, J; Lettre, F; Poudrier, J; Scriver, CR; Tanguay, RM | 1 |
| Anikster, Y; Gahl, WA; Nyhan, WL | 1 |
| Auton, TR; Ellis, MK; Gaskin, P; Lee, DL; Lock, EA; Mutter, LC; Prisbylla, MP; Provan, WM; Robinson, M; Smith, LL | 1 |
| al-Dhalimy, M; Finegold, M; Grompe, M; Overturf, K | 1 |
| Laval, F; Prieto-Alamo, MJ | 1 |
| Dubois, J; Forget, S; Lafortune, M; Merouani, A; Paradis, K; Patriquin, HB; Russo, P | 1 |
| Chong, SK; Croffie, JM; Fitzgerald, JF; Gupta, SK | 1 |
| Lettre, F; Poudrier, J; St-Louis, M; Tanguay, RM | 1 |
| Gill, DS; Lipscomb, AP | 1 |
| Barkaoui, E; Bernard, O; Debray, D; Habès, D; Ogier, H | 1 |
| Fernández-Cañón, JM; Grompe, M; Hejna, J; Olson, S; Reifsteck, C | 1 |
| de Kremer Dodelson, R; Depetris-Boldini, C; Galetto, R; Videla, MP | 1 |
| Holme, E; Lambruschini, N; Lindstedt, S; Mas, A; Ros, J; Vilaseca, MA | 1 |
| Heikinheimo, M; Näntö-Salonen, K; Pitkänen, S; Salo, MK; Vettenranta, K | 1 |
| Engelke, U; Lehnert, W; Stögmann, W; van den Berg, GB; Wevers, RA | 1 |
| Bräutigam, C; Hoffman, GF; Hyland, K; Knust, A; Sharma, RK; Wevers, RA | 1 |
| Burns, RP; Gipson, IK; Murray, MJ | 1 |
| Bardelli, AM; Borgogni, P; Farnetani, MA; Fois, A; Frezzotti, R; Mattei, R; Molinelli, M; Sargentini, I | 1 |
| Kitagawa, T | 2 |
| Goddé-Jolly, D; Larregue, M; Roussat, B; Van Effenterre, G | 1 |
| Bhai, I; Daginawala, HF; Jaiswal, RB; Nath, MC; Nath, N | 1 |
| Goldsmith, LA; Roe, CR; Thorpe, J | 1 |
| Alvarez-Prechous, A; Díaz-Cardama, A; Lema, M; Noya, M | 1 |
| Bernaudin, F | 1 |
| Bélanger, L; Grenier, A; Laberge, C | 1 |
| Lau, T; Piva, A; Raw, I; Schmidt, BJ | 1 |
| Becker, M; Knöpfle, G; Rotthauwe, HW | 1 |
| Bélanger, L; Grenier, A; Morissette, J; Valet, JP | 1 |
| Belanger, L; Grenier, A; Guguen-Guillouzo, C; Schapira, F; Szajnert, MF | 1 |
| Callan, NJ | 1 |
| Gallasch, G; Jaeger, W; Lutz, P; Schmidt, H; Schnyder, UW | 2 |
| Antener, I; Faggioni, R; Gautier, E; Pelet, B; Spahr, A | 1 |
| Mize, CE; Weinberg, AG; Worthen, HG | 1 |
| Jaiswal, RB | 1 |
| Lindblad, B; Lindstedt, S; Steen, G | 1 |
| Hill, GN; Pollard, AC; Robertson, EF | 1 |
| Jeppsson, JO; Lindberg, T; Nilsson, KO | 1 |
| Hasegawa, R; Ito, N; Kanayama, M; Kato, T; Shinohara, Y; Wada, Y | 1 |
| Calvani, M; Mattioli, P; Naccarato, A; Talamo, D; Tirasacchi, V | 1 |
| Christensen, K; Fischer, P; Knudsen, KE; Larsen, S; Sørensen, H; Venge, O | 1 |
| Clayton, BE; Ersser, RS; Lilly, P; Seakins, JW; Whiteman, PD | 1 |
| Bickel, H | 1 |
| Crnojević-Ivanusić, R; Katona, G; Lipovac, K; Mardesić, D; Simunić, I | 1 |
| Zammarchi, E | 1 |
| Rothman, R; Segal, S; Tomer, KB; Yudkoff, M | 1 |
| Holub, J; Hyánek, J; Stĕchovská, M; Vanista, J | 1 |
| Güttler, F; Hansen, G | 1 |
| Holub, J; Hoza, J; Hyánek, J; Karger, P; Kunová, V; Simková, M; Stechovská, M; Valík, A | 1 |
| Coppa, G; Gabrielli, O; Maiorana, A; Montali, U; Paris, D; Renda, B; Zanobini, R | 1 |
| Matolon, R; Michals, K; Wong, PW | 1 |
| Basys, V; Machill, G | 1 |
| Cohen, BE; Crispin, M; Horwitz, A; Keren, G; Legum, C; Szeinberg, A | 1 |
| Reinecke, CJ | 1 |
| Kitagawa, T; Owada, M | 1 |
| Enzenauer, J; Matz, D; Menne, F | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Dimmick, JE; Hardwick, DF | 1 |
| Cohn, RM; Segal, S; Yost, B; Yudkoff, M | 1 |
| Hill, A; Hoag, GN; Zaleski, W | 2 |
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| Baerlocher, K; Curtius, HC; Völlmin, JA | 2 |
| Bergner, H; Münchmeyer, R; Simon, O | 1 |
| Martin, JJ; Schlote, W | 1 |
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| Hlavon, J; Kaniová, V; Mrskos, A; Podhradská, O; Pospísil, R; Saxi, O | 1 |
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58 review(s) available for tyrosine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine | 1965 |
INHERITED METABOLIC DISORDERS: ERRORS OF PHENYLALANINE AND TYROSINE METABOLISM.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Tyrosine | 1963 |
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Child; Child, Preschool; Disease Progression; Dopamine Agonists; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Male; Monoamine Oxidase Inhibitors; Prognosis; Sex Factors; Treatment Outcome; Tyrosine; Vitamin B 6 | 2004 |
Congenital and inheritable diseases associated with tumors and generalized malignancies--an imaging approach.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Basal Cell Nevus Syndrome; Beckwith-Wiedemann Syndrome; Child; Child, Preschool; Chondroma; Colonic Neoplasms; Down Syndrome; Female; Humans; Intestinal Polyps; Iris; Male; Multiple Endocrine Neoplasia; Neoplasms; Neurofibromatosis 1; Nevus, Pigmented; Tuberous Sclerosis; Tyrosine; von Hippel-Lindau Disease | 1983 |
Metabolic diseases and the skin.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Biotin; Child; Child, Preschool; Hartnup Disease; Homocystinuria; Humans; Infant; Infant, Newborn; Phenylketonurias; Skin Diseases; Tyrosine; Tyrosine Transaminase | 1983 |
Tyrosinemia II: lessons in molecular pathophysiology.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Child; Child, Preschool; Eye; Female; Genetic Carrier Screening; History, 20th Century; Humans; Infant; Infant, Newborn; Intellectual Disability; Isomerism; Isotretinoin; Male; Pyridoxine; Rats; Skin; Tretinoin; Tyrosine; Tyrosine Transaminase | 1983 |
Advances in genetics in dermatology.
Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Basal Cell Nevus Syndrome; Epidermolysis Bullosa; Hair Diseases; Humans; Ichthyosis; Keratins; Keratosis; Neurofibromatosis 1; Psoriasis; Refsum Disease; Skin; Skin Diseases; Skin Neoplasms; Tuberous Sclerosis; Tyrosine; Warts; Xeroderma Pigmentosum | 1982 |
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 |
Hepatic Disorders.
Topics: Adolescent; Adult; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Cystic Fibrosis; Female; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactosemias; Glycogen Storage Disease; Humans; Infant; Infant, Newborn; Liver Diseases; Male; Polycystic Kidney Diseases; Porphyrias; Tyrosine; Urea | 1982 |
5-Methylcytosine depletion during tumour development: an extension of the miscoding concept.
Topics: 5-Methylcytosine; Alkylation; Amino Acid Metabolism, Inborn Errors; Animals; Carcinogens; Cell Transformation, Neoplastic; Choline Deficiency; Cytosine; DNA; DNA Repair; Gene Expression Regulation; Humans; Methylation; Methyltransferases; Models, Genetic; Neoplasms; Oncogenes; Rats; Tyrosine; Vitamin B 6 Deficiency | 1983 |
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 |
Tyrosinaemia--treatment and outcome.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Humans; Mice; Treatment Outcome; Tyrosine | 1995 |
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Cornea; Corneal Opacity; Diagnosis, Differential; Female; Humans; Intellectual Disability; Keratitis; Keratitis, Herpetic; Keratoderma, Palmoplantar; Liver; Syndrome; Tyrosine; Tyrosine Transaminase; Visual Acuity | 1995 |
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Keratoderma, Palmoplantar; Light; Male; Tyrosine | 1995 |
A mouse model for human hereditary tyrosinemia I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromosome Mapping; Disease Models, Animal; Genetic Complementation Test; Humans; Mice; Mice, Mutant Strains; Tyrosine | 1994 |
[A case of tyrosinemia type II with convulsion and EEG abnormality].
Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Child; Electroencephalography; Humans; Male; Seizures; Tyrosine | 1993 |
Chemistry and biology of heme. Effect of metal salts, organometals, and metalloporphyrins on heme synthesis and catabolism, with special reference to clinical implications and interactions with cytochrome P-450.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Catalysis; Cytochrome P-450 Enzyme System; Drug Interactions; Heme; Humans; Hyperbilirubinemia; Infant, Newborn; Lead Poisoning; Leukemia, Erythroblastic, Acute; Metalloporphyrins; Metals; Organometallic Compounds; Tyrosine | 1993 |
[Inborn errors of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Liver; Liver Diseases; Tyrosine | 1995 |
Diagnosis and management of tyrosinemia type I.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Cyclohexanones; Disease Models, Animal; Enzyme Inhibitors; Genetic Therapy; Humans; Liver Transplantation; Nitrobenzoates; Phenotype; Tyrosine | 1995 |
Tyrosine and its catabolites: from disease to cancer.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carcinoma, Hepatocellular; Genes, Recessive; Humans; Hydrolases; Incidence; Liver Neoplasms; Mice; Mice, Mutant Strains; Tyrosine | 1996 |
Tyrosinemia: the Quebec experience.
Topics: Amino Acid Metabolism, Inborn Errors; Cyclohexanones; Enzyme Inhibitors; Humans; Infant; Liver Transplantation; Nitrobenzoates; Tyrosine | 1996 |
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Humans; Hydrolases; Mice; Mutation; Tyrosine | 1997 |
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 |
[Hereditary tyrosinemia type I].
Topics: Amino Acid Metabolism, Inborn Errors; Genes, Recessive; Humans; Hydrolases; Mutation; Tyrosine | 1998 |
[Hereditary tyrosinemia type II].
Topics: Amino Acid Metabolism, Inborn Errors; Genes, Recessive; Humans; Mutation; Prognosis; Tyrosine; Tyrosine Transaminase | 1998 |
[Hereditary tyrosinemia type III].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Gene Deletion; Humans; Prognosis; Tyrosine | 1998 |
[Hawkinsinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Biomarkers; Cyclohexenes; Diagnosis, Differential; Humans; Infant, Newborn; Prognosis; Tyrosine | 1998 |
[Other abnormalities of tyrosine metabolism].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid Deficiency; Humans; Infant, Newborn; Intellectual Disability; Liver Diseases; Tyrosine | 1998 |
Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Clinical Trials as Topic; Cyclohexanones; Enzyme Inhibitors; Humans; Nitrobenzoates; Tyrosine | 1998 |
From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Cyclohexanones; Enzyme Inhibitors; Herbicides; Humans; Nitrobenzoates; Tyrosine | 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 |
Keratopathy in tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cornea; Corneal Diseases; Disease Models, Animal; Enzyme Induction; Humans; Infant, Newborn; Rats; Tyrosine; Tyrosine Transaminase | 1976 |
[Alpha fetoproteins].
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Anencephaly; Ataxia Telangiectasia; Bile Duct Neoplasms; Carcinoma, Hepatocellular; Chemical and Drug Induced Liver Injury; Contraceptives, Oral; Female; Fetal Death; Fetal Proteins; Hepatitis Viruses; Humans; Infant, Newborn; Jaundice, Neonatal; Liver; Liver Cirrhosis; Liver Diseases; Liver Neoplasms; Pregnancy; Pregnancy Complications; Prenatal Diagnosis; Spinal Dysraphism; Teratoma; Tyrosine | 1975 |
Alpha fetoprotein.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Anencephaly; Animals; Antibody Formation; Ataxia Telangiectasia; Carcinoma, Hepatocellular; Cystic Fibrosis; Depression, Chemical; Estrogens; Female; Fetal Blood; Fetal Proteins; Gestational Age; Hepatitis; Humans; Infant, Newborn; Lectins; Liver Neoplasms; Lymphocyte Activation; Placenta Diseases; Pregnancy; Tyrosine | 1976 |
Tyrosine-induced skin disease.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Corneal Ulcer; Diagnosis, Differential; Disease Models, Animal; Female; Humans; Infant; Keratoderma, Palmoplantar; Male; Rats; Syndrome; Tyrosine | 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 |
Metabolic cirrhoses of infancy and early childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Cystic Fibrosis; Cystinosis; Fructose Intolerance; Galactosemias; Genetics, Medical; Glycogen Storage Disease Type IV; Hepatolenticular Degeneration; Humans; Iatrogenic Disease; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver; Liver Cirrhosis; Metabolism, Inborn Errors; Mucopolysaccharidoses; Niemann-Pick Diseases; Polycystic Kidney Diseases; Tyrosine | 1976 |
[Tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromosomes, Human, Pair 15; Humans; Hydrolases; Infant; Infant, Newborn; Liver Transplantation; Tyrosine | 1992 |
Tyrosinaemia type I--an update.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydrolases; Tyrosine | 1991 |
Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Child, Preschool; Female; Humans; Liver Neoplasms; Liver Transplantation; Male; Tyrosine | 1989 |
Outcome of therapy of hereditary tyrosinemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Liver Transplantation; Male; Tyrosine | 1988 |
The eye and inherited metabolic disease: a review.
Topics: Abetalipoproteinemia; Amino Acid Metabolism, Inborn Errors; Eye Diseases; Homocystinuria; Humans; Metabolism, Inborn Errors; Ornithine; Tyrosine | 1988 |
Hereditary tyrosinemia type I--an overview.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Female; Genetic Carrier Screening; Humans; Hydrolases; Infant, Newborn; Liver Transplantation; Pregnancy; Prenatal Diagnosis; Tyrosine | 1986 |
Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Male; Tyrosine | 1987 |
Metabolic syndromes with dermatologic manifestations.
Topics: Albinism; Alkaptonuria; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biotinidase; Carbohydrate Metabolism; Eczema; Hartnup Disease; Homocystinuria; Humans; Keratosis; Menkes Kinky Hair Syndrome; Metabolic Diseases; Phenylketonurias; Porphyrias; Skin Diseases; Steryl-Sulfatase; Sulfatases; Tyrosine; Urea | 1986 |
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Biopterins; Diet; Dietary Proteins; Dihydropteridine Reductase; Europe; Female; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Prognosis; Pterins; Tyrosine | 1986 |
[Tyrosine metabolism and its relations to hypertyrosinemia states].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Pyruvate Oxidase; Tyrosine; Tyrosine Transaminase | 1973 |
[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 |
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Cystinosis; Diet Therapy; Galactose; Glucose; Histidine; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Maple Syrup Urine Disease; Phenylketonurias; Sucrose; Tyrosine | 1973 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1973 |
[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 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1967 |
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 |
Genetic and molecular basis of human hereditary diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Arthritis; Brain Diseases; Genetic Diseases, Inborn; Glycogen Storage Disease; Gout; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Nutrition Disorders; Phenylketonurias; Tyrosine | 1967 |
[Congenital tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Tyrosine | 1966 |
3 trial(s) available for tyrosine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Oxidative stress parameters in urine from patients with disorders of propionate metabolism: a beneficial effect of L:-carnitine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Antioxidants; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Supplements; Humans; Infant; Infant, Newborn; Matched-Pair Analysis; Methylmalonic Acid; Oxidative Stress; Propionates; Treatment Outcome; Tyrosine | 2012 |
Hematin therapy for the neurologic crisis of tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminolevulinic Acid; Heme; Hemin; Heptanoates; Humans; Infant; Liver Transplantation; Male; Tyrosine | 1991 |
25-Hydroxycholecalciferol. A comparative study in deficiency rickets and different types of resistant rickets.
Topics: Administration, Oral; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Bone and Bones; Calcium; Child, Preschool; Cholecalciferol; Citrates; Clinical Trials as Topic; Cystinosis; Drug Resistance; Evaluation Studies as Topic; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Infant; Magnesium; Microradiography; Phosphorus; Rickets; Tyrosine | 1972 |
555 other study(ies) available for tyrosine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dried Blood Spot Testing; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Tandem Mass Spectrometry; Tyrosine; Young Adult | 2021 |
[Update on pathogenesis, diagnosis and treatment of hereditary tyrosinemia type Ⅰ].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Tyrosine; Tyrosinemias | 2022 |
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aromatic-L-Amino-Acid Decarboxylases; Case-Control Studies; Dried Blood Spot Testing; Female; High-Throughput Screening Assays; Humans; Infant, Newborn; Male; Neonatal Screening; Tandem Mass Spectrometry; Tyrosine | 2020 |
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 |
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Topics: Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Dopamine; Female; Humans; Infant, Newborn; Italy; Levodopa; Male; Neonatal Screening; Neurotransmitter Agents; Tandem Mass Spectrometry; Tyrosine | 2021 |
Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; CD3 Complex; Corpus Striatum; Disease Models, Animal; Dose-Response Relationship, Drug; Gene Expression Regulation; Glial Fibrillary Acidic Protein; Glutaryl-CoA Dehydrogenase; Inflammation; Lysine; Mice; Mice, Inbred C57BL; Mice, Knockout; Oxidation-Reduction; Quinolinic Acid; S100 Calcium Binding Protein beta Subunit; Statistics, Nonparametric; Time Factors; Tyrosine | 2018 |
Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biomarkers; Cerebral Cortex; Gene Expression Regulation; Humans; Inflammation Mediators; Interleukin-1beta; Memory Disorders; Methylmalonic Acid; Neuroimmunomodulation; Nitric Oxide Synthase Type II; Rats; Rats, Wistar; Spatial Behavior; Tumor Necrosis Factor-alpha; Tyrosine | 2013 |
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Calibration; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydroxyphenylalanine; Dried Blood Spot Testing; Humans; Infant; Infant, Newborn; Neonatal Screening; Quality Control; Reference Standards; Reproducibility of Results; Tandem Mass Spectrometry; Tyrosine | 2014 |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Female; Gestational Age; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Neurotransmitter Agents; Tandem Mass Spectrometry; Tyrosine | 2016 |
Detection of treatable neonatal liver disease by expanded newborn screening.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Antioxidants; Biomarkers; Blood Coagulation Disorders; Diagnosis, Differential; Ferritins; Hemochromatosis; Humans; Hypoalbuminemia; Infant, Newborn; Iron; Iron Chelating Agents; Liver; Male; Methionine; Neonatal Screening; Predictive Value of Tests; Tandem Mass Spectrometry; Treatment Outcome; Tyrosine | 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 |
Two siblings with tyrosinaemia type 2.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Conjunctivitis; Diagnosis, Differential; Female; Foot Dermatoses; Humans; Keratosis; Male; Photophobia; Syndrome; Tyrosine | 2003 |
[Excretion of p-hydroxyphenylpyruvic acid, phenylpyruvic acid & other alpha-ketone acids in the urine of healthy humans, also a contribution to the problem of tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Keto Acids; Ketones; Phenylpyruvic Acids; Tyrosine | 1957 |
[Hepatic cirrhosis with secondary rickets and tyrosinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Body Fluids; Child; Humans; Infant; Liver Cirrhosis; Rickets; Tyrosine | 1961 |
[Phenylpyruvic idiocy and tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Intellectual Disability; Phenylketonurias; Tyrosine | 1962 |
TYROSINOSIS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Genetics, Medical; Glycine; Metabolic Diseases; Phenols; Phenylalanine; Phenylpyruvic Acids; Tyrosine; Urine | 1963 |
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 |
[CONGENITAL CIRRHOSIS WITH COMPLEX RENAL TUBULE DISEASE DUE TO AN ANOMALY OF TYROSINE METABOLISM].
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Chronic Kidney Disease-Mineral and Bone Disorder; Genetics, Medical; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Kidney Diseases; Liver Cirrhosis; Liver Neoplasms; Pathology; Phenylacetates; Phenylpyruvic Acids; Renal Aminoacidurias; Renal Tubular Transport, Inborn Errors; Rickets; Tyrosine | 1964 |
STUDIES ON TYROSINOSIS: 2, ACTIVITY OF THE TRANSAMINASE, PARAHYDROXY-PHENYL-PYRUVATE OXIDASE, AND HOMOGENTISIC-ACID OXIDASE.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Homogentisate 1,2-Dioxygenase; Humans; Kidney; Liver; Metabolism; Oxygenases; Pyruvate Oxidase; Transaminases; Tyrosine | 1965 |
TYROSINEMIA.
Topics: Acid-Base Equilibrium; Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Biochemistry; Blood; Child; Chronic Kidney Disease-Mineral and Bone Disorder; Drug Therapy; Fanconi Syndrome; Genetics, Medical; Humans; Infant; Infant, Newborn; Kidney Diseases; Kidney Function Tests; Kidney Tubules; Liver Cirrhosis; Liver Function Tests; Pathology; Pigmentation Disorders; Prognosis; Proteinuria; Radiography; Rickets; Thrombocytopenia; Tyrosine; Tyrosinemias; Vitamin D; Water-Electrolyte Balance | 1965 |
INBORN ERRORS OF METABOLISM.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Classification; Clinical Laboratory Techniques; Galactosemias; Genetics, Medical; Humans; Intellectual Disability; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Tyrosine | 1965 |
[Fractionated tyrosinuria in some systemic diseases].
Topics: Amino Acid Metabolism, Inborn Errors; Body Fluids; Humans; Tyrosine; Urine | 1950 |
[On tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Liver Diseases; Tyrosine | 1951 |
[Fractionated tyrosinuria in subjects undergoing therapy; note II].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Tyrosine | 1950 |
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Hypertrophic; Cyclohexanones; Echocardiography; Enzyme Inhibitors; Humans; Hypertrophy, Left Ventricular; Infant; Male; Nitrobenzoates; Tyrosine; Tyrosinemias | 2005 |
Radiological case of the month. Tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Arm; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Radiography, Thoracic; Tyrosine; Urography | 1967 |
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 |
Tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Infant; Meningitis; Mixed Function Oxygenases; Tyrosine | 1967 |
Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Female; Humans; Infant; Male; Methionine; Mixed Function Oxygenases; Quebec; Tyrosine | 1967 |
The dangers of a successful PKU program.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Mass Screening; Phenylketonurias; Tyrosine | 1967 |
Transient tyrosinemia of the newborn: dietary and clinical aspects.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Tyrosine | 1967 |
Diagnosis and treatment: interpreting the positive screening test in the newborn infant.
Topics: Amino Acid Metabolism, Inborn Errors; Clinical Laboratory Techniques; Diagnosis, Differential; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylketonurias; Tyrosine | 1967 |
Diet therapy for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Coenzymes; Cystinuria; Diet Therapy; Hartnup Disease; Humans; Infant; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Tyrosine | 1967 |
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 |
Experience with 37 infants with tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Tyrosine | 1967 |
Pathological findings in patients with tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Kidney; Liver; Tyrosine | 1967 |
Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Male; Tyrosine | 1967 |
Clinical and biochemical study of three patients with tyrosyluria.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Male; Tyrosine | 1967 |
A patient with tyrosinemia and hypermethioninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Humans; Infant; Kidney; Liver; Male; Methionine; Pancreas; Tyrosine | 1967 |
The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria: a hypothesis.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Tyrosine | 1967 |
The enzymatic deficiency in tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Oxidoreductases; Phenylalanine; Tyrosine | 1967 |
Secondary metabolic derangements in patients with tyrosyluria.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Coagulation Disorders; Blood Protein Disorders; Carbohydrate Metabolism; Copper; Humans; Infant; Tyrosine | 1967 |
Observations on treatment in patients with tyrosyluria.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant; Phenylalanine; Tyrosine | 1967 |
Hereditary tyrosinemia. General discussion: screening aspects.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Mass Screening; Tyrosine | 1967 |
Genetic aspects of tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Tyrosine | 1967 |
Paper chromatography of some weakly basic urine constituents and the estimation of urinary tyrosine.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystic Fibrosis; Humans; Hydrogen-Ion Concentration; Imidazoles; Phenylketonurias; Tyrosine | 1967 |
Genetic aspects of tyrosinemia in the Chicoutimi region.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Quebec; Tyrosine | 1967 |
Tyrosinaemia and tyrosyluria in infancy.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Birth Weight; England; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Sex Factors; Tyrosine | 1967 |
Defect in soluble tyrosine aminotransferase in skin fibroblasts of a patient with tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Humans; Infant; Skin; Tyrosine; Tyrosine Transaminase | 1980 |
Tyrosine aminotransferase deficiency in mink (Mustela vision): a model for human tyrosinemia II.
Topics: Amino Acid Metabolism, Inborn Errors; Animal Diseases; Animals; Aspartate Aminotransferases; Disease Models, Animal; Humans; Immunodiffusion; Mink; Mitochondria, Liver; Rats; Species Specificity; Tyrosine; Tyrosine Transaminase | 1981 |
Hepatic tyrosine aminotransferase in tyrosinaemia type II.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Liver; Tyrosine; Tyrosine Transaminase | 1982 |
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Humans; Hydrolases; Infant, Newborn; Liver; Male; Mitochondria; Oxygenases; Tyrosine; Tyrosine Transaminase | 1982 |
Neonatal and prenatal diagnosis of hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Humans; Hydrolases; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Tyrosine | 1983 |
Enzyme defect in a case of tyrosinemia type I, acute form.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Cytosol; Humans; Hydrolases; Infant, Newborn; Kidney; Liver; Male; Oxygenases; Tyrosine; Tyrosine Transaminase | 1984 |
Persistent tyrosinemia associated with low activity of tyrosine aminotransferase.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Child, Preschool; Female; Humans; Infant; Isoelectric Focusing; Kinetics; Liver; Male; Tyrosine; Tyrosine Transaminase | 1984 |
[Type II oculo-cutaneous tyrosinosis].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Eye Diseases; Female; Humans; Keratoderma, Palmoplantar; Tyrosine; Tyrosine Transaminase | 1984 |
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Female; Fetal Blood; Humans; Infant; Infant, Newborn; Liver Diseases; Male; Methionine; Tyrosine | 1983 |
The chemical basis and specificity of the nitrosonaphthol reaction.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoid Tumor; Chemical Phenomena; Chemistry; Guaiacol; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Indoles; Neuroblastoma; Nitroso Compounds; Phenylacetates; Spectrophotometry, Ultraviolet; Tyramine; Tyrosine | 1983 |
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 |
[Surgical excision of a hepatoma complicating chronic tyrosinemia (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Female; Humans; Liver Neoplasms; Tyrosine | 1980 |
The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Prenatal Diagnosis; Tyrosine | 1984 |
The enzyme defects in hereditary tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydrolases; Infant, Newborn; Kidney; Liver; Phenylpyruvic Acids; Tyrosine | 1984 |
Richner-Hanhart syndrome and tyrosinemia type II.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Keratitis; Keratoderma, Palmoplantar; Male; Pedigree; Syndrome; Tyrosine | 1980 |
Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Keratoderma, Palmoplantar; Male; Pedigree; Syndrome; Tyrosine | 1981 |
Pseudodendritic keratitis and systemic tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Keratitis, Dendritic; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine | 1981 |
Screening for aminoacid disorders in mental retardation.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Kynurenine; Male; Renal Aminoacidurias; Tyrosine | 1984 |
Tyrosinaemia II.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Male; Tyrosine | 1984 |
Coagulation defect of congenital tyrosinaemia.
Topics: Afibrinogenemia; Amino Acid Metabolism, Inborn Errors; Blood Coagulation Disorders; Blood Coagulation Factors; Female; Humans; Infant, Newborn; Liver; Male; Tyrosine | 1984 |
[Richner-Hanart syndrome without skin involvement].
Topics: Amino Acid Metabolism, Inborn Errors; Eye Diseases; Female; Humans; Infant; Syndrome; Tyrosine | 1984 |
Hyperphenylalaninemia with defective transamination.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Humans; Infant; Male; Phenylalanine; Tyrosine | 1983 |
Liver disease in hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Liver Diseases; Tyrosine | 1983 |
Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Fibroblasts; Humans; Hydrolases; Infant; Kidney; Liver; Lymphocytes; Tyrosine | 1983 |
Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Humans; Kinetics; Methionine Adenosyltransferase; Porphobilinogen Synthase; Rabbits; Tyrosine | 1983 |
Prenatal diagnosis of hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Female; Heptanoates; Humans; Infant, Newborn; Pregnancy; Tyrosine | 1984 |
[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 |
Determination of urinary succinylacetone by capillary gas chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Tyrosine | 1984 |
Acute hereditary tyrosinaemia type I: clinical, biochemical and haematological studies in twins.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Diseases in Twins; Erythrocytes; Fibroblasts; Fumarates; Humans; Hydrolases; Infant, Newborn; Infant, Newborn, Diseases; Male; Platelet Aggregation; Porphobilinogen Synthase; Tyrosine; Urine | 1981 |
Metabolic disorders and corneal changes.
Topics: Amino Acid Metabolism, Inborn Errors; Amyloidosis; Cornea; Corneal Dystrophies, Hereditary; Dysautonomia, Familial; Fabry Disease; Glycogen Storage Disease; Humans; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mucolipidoses; Mucopolysaccharidoses; Tyrosine | 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 |
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Germany, West; Homocystinuria; Humans; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Mass Screening; Phenotype; Phenylketonurias; Time Factors; Tyrosine | 1981 |
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines.
Topics: Amino Acid Metabolism, Inborn Errors; Cost-Benefit Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Sweden; Tyrosine | 1982 |
Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Chick Embryo; Erythrocytes; Heme; Heptanoates; Heptanoic Acids; Humans; In Vitro Techniques; Liver; Mice; Mice, Inbred BALB C; Porphobilinogen Synthase; Species Specificity; Tyrosine | 1983 |
Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adult; Amino Acid Metabolism, Inborn Errors; Consanguinity; Cytosol; Female; Humans; Hydrolases; Infant, Newborn; Liver; Male; Mitochondria, Liver; Oxygenases; Phenylacetates; Phenylpyruvic Acids; Tyrosine | 1983 |
Alcaptonuria with seizures.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Epilepsy; Humans; Male; Tyrosine | 1983 |
[Oculocutaneous albinism and tyrosinuria. Description of a clinical case].
Topics: Albinism; Amino Acid Metabolism, Inborn Errors; Humans; Infant; Male; Tyrosine | 1983 |
[Tyrosinosis with hepatolenticular degeneration (Wilson's disease)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Corneal Diseases; Hepatolenticular Degeneration; Humans; Male; Tyrosine | 1983 |
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; Amino Acid Metabolism, Inborn Errors; Deuterium; Female; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Infant; Liver; Male; Tyrosine | 1983 |
Abnormalities of the liver and other organs.
Topics: Abnormalities, Multiple; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Colitis; Colon; Cystinosis; Heart Failure; Hemochromatosis; Hepatolenticular Degeneration; Humans; Liver; Liver Diseases; Necrosis; Radiography; Sclerosis; Tyrosine | 1980 |
[Congenital tyrosine metabolism disorders in children with hemoblastoses].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Hemangiosarcoma; Histiocytosis, Langerhans-Cell; Humans; Infant; Infant, Newborn; Leukemia; Neuroblastoma; Tyrosine | 1981 |
The pancreatic beta cell fraction in children with errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1982 |
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 |
Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Heptanoates; Heptanoic Acids; Humans; Methods; Paper; Porphobilinogen Synthase; Tyrosine | 1982 |
Prenatal diagnosis of hereditary tyrosinaemia confirmed.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Tyrosine | 1982 |
Sural nerve lesions in a case of hypertyrosinemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Axons; Humans; Infant, Newborn; Male; Microscopy, Electron; Nerve Fibers, Myelinated; Spinal Nerves; Sural Nerve; Tyrosine | 1982 |
Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Tyrosine | 1982 |
Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver.
Topics: 5-Aminolevulinate Synthetase; Amino Acid Metabolism, Inborn Errors; Animals; Chick Embryo; Erythrocytes; Heptanoates; Heptanoic Acids; Humans; Liver; Mice; Mice, Inbred BALB C; Porphobilinogen Synthase; Tyrosine | 1982 |
[Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cornea; Epidermis; Female; Humans; Infant; Keratitis, Dendritic; Keratosis; Mitochondria; Rats; Tyrosine | 1980 |
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 |
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Fumarates; Heptanoates; Humans; Hydrolases; Infant; Keto Acids; Liver; Male; Tyrosine | 1981 |
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Carboxylic Acids; Cyclohexanecarboxylic Acids; Cyclohexenes; Genes, Dominant; Humans; Infant; Male; Pedigree; Tyrosine | 1981 |
["Succinylacetone effect' after oral homogentisate loading].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Erythrocytes; Female; Heptanoates; Heptanoic Acids; Homogentisic Acid; Humans; Keto Acids; Male; Porphobilinogen Synthase; Sulfides; Tyrosine | 1981 |
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
Topics: Acetoacetates; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Cell Fractionation; Cytosol; Drug Stability; Fumarates; Humans; Hydrolases; Infant; Kinetics; Liver; Middle Aged; Tyrosine | 1981 |
Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Female; Fumarates; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Infant; Keto Acids; Levulinic Acids; Male; Models, Biological; Tyrosine | 1981 |
[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Chromosome Deletion; Chromosomes, Human, 4-5; Female; Humans; Infant, Newborn; Male; Middle Aged; Oxygenases; Pedigree; Tyrosine | 1981 |
A neuropathological investigation of a case of tyrosinosis.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Brain; Hepatomegaly; Humans; Infant; Jaundice; Male; Splenomegaly; Tyrosine | 1980 |
Abnormal porphyrin metabolism in diseases other than prophyria.
Topics: Alcohol Drinking; Amino Acid Metabolism, Inborn Errors; Anemia, Hemolytic; Anemia, Hypochromic; Anemia, Megaloblastic; Anemia, Sickle Cell; Anemia, Sideroblastic; Humans; Lead Poisoning; Leukemia; Liver Diseases; Malabsorption Syndromes; Mental Disorders; Polycythemia; Porphyrins; Time Factors; Tyrosine | 1980 |
[Transient tyrosinemia in a premature infant].
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Premature, Diseases; Male; Tyrosine | 1980 |
Immunological abnormalities in a patient with tyrosinaemia type III.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Diet; Humans; Immune System Diseases; Male; T-Lymphocytes; Tyrosine | 1995 |
Alpha-fetoprotein glycosylation is abnormal in some hepatocellular carcinoma, including white patients with a normal alpha-fetoprotein concentration.
Topics: Adult; Aged; alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Black People; Carcinoma, Hepatocellular; Child, Preschool; Chromatography, Affinity; Female; Gambia; Glycosylation; Hepatitis, Chronic; Humans; Infant, Newborn; Lectins; Linear Models; Liver Neoplasms; Male; Middle Aged; Plant Lectins; Protein Binding; Radioimmunoassay; Risk Factors; Tyrosine; United States; White People | 1993 |
Serum levels of oncofetal markers CA 125, CA 19-9, and alpha-fetoprotein in children with hereditary tyrosinemia type I.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Antigens, Tumor-Associated, Carbohydrate; Biomarkers, Tumor; Carcinoma, Hepatocellular; Child, Preschool; Female; Humans; Infant; Liver Neoplasms; Male; Tyrosine | 1994 |
Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cyclohexanones; Disease Models, Animal; Enzyme Inhibitors; Female; Heptanoates; Humans; Hydrolases; Liver; Liver Diseases; Liver Neoplasms; Male; Mice; Mice, Inbred C57BL; Nitrobenzoates; Pancreas; RNA, Messenger; Tyrosine | 1995 |
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Chronic Disease; DNA Mutational Analysis; Exons; Heterozygote; Humans; Male; Molecular Sequence Data; RNA Splicing; Tyrosine | 1995 |
Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Graft Rejection; Humans; Infant; Infant, Newborn; Liver Transplantation; Risk Assessment; Survival Rate; Treatment Outcome; Tyrosine | 1995 |
Liver transplantation in tyrosinaemia type I: the Groningen experience.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Follow-Up Studies; Glomerular Filtration Rate; Graft Rejection; Humans; Infant; Liver Transplantation; Male; Survival Rate; Treatment Outcome; Tyrosine | 1995 |
Plasma antioxidant capacity in two cases of tyrosinaemia type 1: one case treated with NTBC.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Antioxidants; Bilirubin; Cyclohexanones; Enzyme Inhibitors; Fatal Outcome; Female; Humans; Infant; Infant, Newborn; Male; Nitrobenzoates; Serum Albumin; Tyrosine | 1995 |
Liver transplantation in nine Spanish patients with tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Enzyme Inhibitors; Graft Rejection; Heptanoates; Humans; Infant; Infant, Newborn; Liver Transplantation; Porphobilinogen Synthase; Spain; Treatment Outcome; Tyrosine | 1995 |
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 |
Isolated persistent hypermethioninemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Folic Acid; Humans; Infant; Male; Methionine; Prognosis; Tyrosine | 1995 |
Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dione.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Cyclohexanones; Liver; Magnetic Resonance Spectroscopy; Male; Mesylates; Nitrobenzoates; Phenylpyruvic Acids; Rats; Rats, Wistar; Tyrosine | 1995 |
The nephropathy of type I tyrosinemia after liver transplantation.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Follow-Up Studies; Humans; Infant; Kidney; Kidney Diseases; Liver; Liver Transplantation; Tyrosine | 1995 |
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; beta-N-Acetylhexosaminidases; Fibroblasts; Glutathione; Glutathione Synthase; Humans; Hydrolases; Liver; Oxidation-Reduction; Reference Values; Serum Albumin; Sulfhydryl Compounds; Tyrosine | 1995 |
Liver transplantation in type I tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child, Preschool; Follow-Up Studies; Humans; Infant; Liver Cirrhosis; Liver Failure; Liver Neoplasms; Retrospective Studies; Time Factors; Tyrosine | 1995 |
Walking the ethical highwire: genetic screening and hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Testing; Humans; Hydrolases; Mutation; Tyrosine | 1995 |
Liver transplantation in children with inherited metabolic disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Child; Child, Preschool; Follow-Up Studies; Graft Survival; Humans; Hyperoxaluria; Liver Transplantation; Metabolism, Inborn Errors; Time Factors; Tyrosine; Urea | 1995 |
Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Deoxyribonucleases, Type II Site-Specific; DNA Primers; Humans; Hydrolases; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Quebec; Tyrosine | 1995 |
Two novel mutations involved in hereditary tyrosinemia type I.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Blotting, Western; Canada; DNA; Exons; Female; Humans; Hydrolases; Infant, Newborn; Liver; Male; Molecular Sequence Data; Mutation; Norway; Peptides; Polymerase Chain Reaction; Sequence Analysis, DNA; Tyrosine | 1995 |
A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; DNA Primers; DNA, Complementary; Exons; Gene Library; Liver; Male; Mice; Mice, Inbred BALB C; Mice, Mutant Strains; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Restriction Mapping; RNA, Messenger; Tyrosine | 1995 |
[Renal involvement in type I tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Fanconi Syndrome; Humans; Liver Transplantation; Prognosis; Tyrosine | 1994 |
Image interpretation session. Tyrosinemia with hepatic and renal involvement and possible associated hepatocellular carcinoma.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Female; Humans; Infant; Kidney Diseases; Liver; Liver Diseases; Liver Neoplasms; Tyrosine | 1995 |
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Child; France; Gene Frequency; Genetic Carrier Screening; Haplotypes; Humans; Hydrolases; Mutation; Pedigree; Polymorphism, Restriction Fragment Length; Prenatal Diagnosis; Quebec; Tyrosine | 1994 |
Prenatal diagnosis of type I hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diseases in Twins; DNA Mutational Analysis; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy, Multiple; Prenatal Diagnosis; Tyrosine | 1994 |
Self-induced correction of the genetic defect in tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Mutational Analysis; Fibroblasts; Gene Conversion; Humans; Hydrolases; Liver; Molecular Sequence Data; Mosaicism; Point Mutation; Restriction Mapping; Tyrosine | 1994 |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
Topics: Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; DNA; DNA Primers; Exons; Humans; Hydrolases; Infant; Introns; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Tyrosine | 1994 |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Cells, Cultured; DNA Primers; Female; Humans; Hydrolases; Liver; Male; Molecular Sequence Data; Mutation; Pedigree; Tyrosine | 1994 |
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Primers; Feasibility Studies; Heterozygote; Humans; Hydrolases; Infant, Newborn; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Quebec; Tyrosine | 1994 |
Neurological crisis in hereditary tyrosinaemia and complete reversal after liver transplantation.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Liver Transplantation; Peripheral Nervous System Diseases; Phrenic Nerve; Tyrosine | 1994 |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; DNA Primers; Electrophoresis, Agar Gel; Exons; Female; Humans; Hydrolases; Infant; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; RNA Splicing; RNA, Messenger; Tyrosine | 1994 |
Dietetic therapy of Richner-Hanhart syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Humans; Infant; Tyrosine | 1993 |
Factors affecting growth after pediatric liver transplantation.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biliary Atresia; Carcinoma, Hepatocellular; Child; Child, Preschool; Female; Growth; Growth Disorders; Growth Hormone; Humans; Hydrocortisone; Infant; Insulin-Like Growth Factor I; Liver Neoplasms; Liver Transplantation; Male; Methylprednisolone; Time Factors; Tyrosine | 1994 |
Blood group-specific antigens allow the elimination of recipient alloantibodies in paediatric ABO-incompatible liver transplantation.
Topics: ABO Blood-Group System; Amino Acid Metabolism, Inborn Errors; Animals; Biliary Atresia; Evaluation Studies as Topic; Graft Rejection; Humans; Immunosuppression Therapy; Infant; Isoantibodies; Isoantigens; Liver Transplantation; Male; Tyrosine | 1994 |
Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid.
Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child, Preschool; Creatinine; Heptanoates; Humans; Infant; Liver Transplantation; Male; Tyrosine | 1993 |
Tyrosinaemia type Ia without excess of urinary succinylacetone.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Heptanoates; Humans; Tyrosine | 1993 |
[Surgical and metabolic aspects of liver transplantation for tyrosinemia].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Central Nervous System Diseases; Child; Child, Preschool; Female; Heptanoates; Humans; Infant; Kidney Function Tests; Kidney Transplantation; Liver Failure; Liver Transplantation; Male; Postoperative Care; Preoperative Care; Quebec; Renal Insufficiency; Tyrosine | 1993 |
[Biliary complications in pediatric liver transplantation].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biliary Atresia; Biliary Tract Diseases; Child; Child, Preschool; Humans; Incidence; Infant; Liver Transplantation; Retrospective Studies; Tyrosine | 1993 |
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Child, Preschool; DNA Primers; Exons; Finland; Humans; Hydrolases; Infant; Liver; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Tyrosine | 1994 |
Catecholamines in Drosophila melanogaster (wild type and ebony mutant) decuticalarized retinas and brains.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Catecholamines; Chromatography, High Pressure Liquid; Drosophila melanogaster; Eye Color; Freeze Drying; Mutation; Organ Specificity; Retina; Specimen Handling; Tyrosine | 1993 |
Promising new treatment for type I tyrosinemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cyclohexanones; Humans; Nitrobenzoates; Tyrosine | 1993 |
Surgical and metabolic aspects of liver transplantation for tyrosinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biliary Atresia; Child; Child, Preschool; Female; Glomerular Filtration Rate; Humans; Infant; Liver Transplantation; Male; Quebec; Survival Rate; Tyrosine | 1993 |
Biliary tract complications in pediatric orthotopic liver transplantation.
Topics: Amino Acid Metabolism, Inborn Errors; Biliary Atresia; Biliary Tract Diseases; Child, Preschool; Choledochostomy; Drainage; Humans; Liver Transplantation; Morbidity; Postoperative Complications; Risk Factors; Tyrosine | 1993 |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Cell Line; Child, Preschool; DNA; DNA Mutational Analysis; France; Humans; Hydrolases; Infant; Infant, Newborn; Male; Molecular Sequence Data; Nucleic Acid Hybridization; Polymerase Chain Reaction; Quebec; RNA Splicing; Tyrosine | 1993 |
Hereditary tyrosinaemia (HT) type 1A.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Genes, Recessive; Humans; Infant; Kidney; Liver; Radiography; Tyrosine; Ultrasonography | 1993 |
[Oculocutaneous type II tyrosinosis].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine | 1993 |
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Cell Line; Chromosome Mapping; DNA; DNA Mutational Analysis; Exons; Gene Expression; Genes, Recessive; Humans; Hydrolases; Introns; Liver; Molecular Sequence Data; RNA, Messenger; Transfection; Tyrosine | 1993 |
Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Bacteremia; Clinical Enzyme Tests; Cytomegalovirus Infections; Female; Humans; Hydrolases; Infant; Meningitis, Pneumococcal; Pneumococcal Infections; Tyrosine | 1993 |
Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cyclohexanones; Electromyography; Female; Humans; Neural Conduction; Nitrobenzoates; Peripheral Nervous System Diseases; Tyrosine | 1993 |
Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Northern; Brain; Humans; Hydrolases; Immunoblotting; Immunohistochemistry; Rats; Rats, Sprague-Dawley; Tyrosine | 1993 |
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
Topics: Amino Acid Metabolism, Inborn Errors; Blotting, Western; Child; Child, Preschool; Family Health; Fibroblasts; Humans; Hydrolases; Immunohistochemistry; Infant; Liver; Norway; Subcellular Fractions; Tyrosine | 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 |
Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Intellectual Disability; Keratoderma, Palmoplantar; Kuwait; Male; Pedigree; Point Mutation; Syndrome; Tyrosine; Tyrosine Transaminase | 1995 |
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Topics: Alleles; Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Child, Preschool; Consensus Sequence; DNA Primers; Exons; Genotype; Humans; Hydrolases; Infant; Molecular Sequence Data; Mutation; Phenotype; Point Mutation; Polymerase Chain Reaction; RNA Splicing; RNA, Messenger; Tyrosine | 1996 |
Round two for liver gene therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cell Transplantation; Genetic Therapy; Humans; Hydrolases; Liver; Tyrosine | 1996 |
Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cell Count; Cell Transplantation; Cyclohexanones; Disease Models, Animal; Enzyme Inhibitors; Genetic Therapy; Humans; Hydrolases; Immunoenzyme Techniques; Liver; Liver Function Tests; Liver Neoplasms; Male; Mice; Mice, Inbred C57BL; Nitrobenzoates; Retroviridae; Tyrosine | 1996 |
Pseudotumours of hepatic imaging.
Topics: Adolescent; Adult; Aged; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Gaucher Disease; Humans; Infant; Liver Diseases; Liver Failure; Liver Transplantation; Tomography, X-Ray Computed; Tyrosine | 1996 |
A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Cells, Cultured; DNA Mutational Analysis; Enzyme Inhibitors; Female; Fetal Diseases; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Male; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Tyrosine | 1996 |
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Primers; Genotype; Humans; Hydrolases; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; RNA Splicing; Tyrosine | 1996 |
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Primers; Finland; Genetic Carrier Screening; Heterozygote; Humans; Molecular Sequence Data; Mutation; Tyrosine | 1996 |
Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC).
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child; Cyclohexanones; Enzyme Inhibitors; Female; Humans; Kidney Diseases; Male; Nitrobenzoates; Osteoporosis; Phosphates; Reference Values; Tyrosine; Uric Acid | 1996 |
Screening for tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; England; Humans; Incidence; Infant; Infant, Newborn; Neonatal Screening; Retrospective Studies; Sensitivity and Specificity; Tyrosine | 1996 |
Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Gene Frequency; Heterozygote; Humans; Hydrolases; Male; Mutation; Quebec; RNA Splicing; Tyrosine | 1996 |
Fumarylacetoacetase mutations in tyrosinaemia type I.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA Primers; Electrophoresis, Agar Gel; Genotype; Humans; Hydrolases; Molecular Sequence Data; Mutation; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; RNA Splicing; Tyrosine | 1996 |
Pediatric case of the day. Hepatorenal tyrosinemia (tyrosinemia type I).
Topics: Amino Acid Metabolism, Inborn Errors; Diagnostic Imaging; Humans; Infant; Kidney; Liver; Male; Radiography; Tyrosine; Ultrasonography | 1996 |
Hepatocyte transplantation: "Only the strong survive.".
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cell Transplantation; Hydrolases; Liver; Mice; Tyrosine | 1996 |
Quantitation of homogentisic acid in normal human plasma.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Heterozygote; Homogentisic Acid; Humans; Radioisotope Dilution Technique; Tyrosine | 1996 |
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Kidney; Liver; Liver Transplantation; Male; Pancreas; Tomography, X-Ray Computed; Tyrosine; Ultrasonography | 1996 |
Nephropathy of tyrosinemia and its long-term outlook.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Kidney Diseases; Liver Transplantation; Tyrosine | 1997 |
Abnormal glutathione conjugation in patients with tyrosinaemia type I.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Bromisovalum; Child; Child, Preschool; Female; Glutathione; Glutathione Transferase; Humans; Hypnotics and Sedatives; Infant; Isoenzymes; Male; Phenotype; Polymorphism, Genetic; Reference Values; Stereoisomerism; Tyrosine | 1997 |
[Late onset type I tyrosinemia].
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Biopsy; Child, Preschool; Cyclohexanones; Enzyme Inhibitors; Female; Humans; Liver Cirrhosis; Nitrobenzoates; Palliative Care; Porphyrias; Tyrosine | 1997 |
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Liver; Liver Function Tests; Mice; Mice, Mutant Strains; Mutation; Phenotype; Tyrosine | 1997 |
Tyrosinemia type III: diagnosis and ten-year follow-up.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy, Needle; Child; Child, Preschool; Drug Combinations; Follow-Up Studies; Humans; Intellectual Disability; Liver; Male; Minerals; Neurologic Examination; Tyrosine; Vitamins | 1997 |
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi Sampling; Heterozygote; Humans; Hydrolases; Infant; Liver Failure; Male; Mutation; Tyrosine | 1997 |
3-year-old girl with rickets and hepatomegaly.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child, Preschool; Diagnosis, Differential; Female; Hepatomegaly; Humans; Liver Function Tests; Magnetic Resonance Imaging; Rickets; Tyrosine | 1998 |
Ex vivo hepatic gene therapy of a mouse model of Hereditary Tyrosinemia Type I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Cell Survival; Cell Transplantation; Cells, Cultured; Cyclohexanones; Disease Models, Animal; DNA, Complementary; Enzyme Inhibitors; Female; Genetic Diseases, Inborn; Genetic Therapy; Humans; Hydrolases; Liver; Male; Mice; Molecular Sequence Data; Nitrobenzoates; Tyrosine | 1998 |
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Consanguinity; DNA Mutational Analysis; Escherichia coli; Exons; Female; Gene Expression; Haplotypes; Humans; Infant; Infant, Newborn; Italy; Male; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Recombinant Fusion Proteins; Tyrosine; Tyrosine Transaminase | 1998 |
Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
Topics: Amino Acid Metabolism, Inborn Errors; Bile Acids and Salts; Biopsy; Cholestasis; Gas Chromatography-Mass Spectrometry; Humans; Immunoblotting; Infant; Japan; Liver; Male; Metabolism, Inborn Errors; Oxidoreductases; Tyrosine | 1998 |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA; Europe; Genetic Heterogeneity; Heterozygote; Homozygote; Humans; Hydrolases; Mediterranean Region; Mutation; Polymorphism, Single-Stranded Conformational; Tyrosine | 1998 |
Alterations of hepatic peroxisomes in tyrosinaemia type I: return to fetal type?
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Catalase; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Liver; Male; Microbodies; Tyrosine | 1998 |
Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Cell-Free System; Cysteine Proteinase Inhibitors; Cytochrome c Group; Disease Models, Animal; Liver; Mice; Mice, Knockout; Mitochondria, Liver; Tyrosine | 1998 |
Tyrosinemia type I-like disease: a possible manifestation of 3-oxo-delta 4-steroid 5 beta-reductase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Bile Acids and Salts; Cholestasis; Diagnosis, Differential; Female; Humans; Infant; Male; Oxidoreductases; Tyrosine | 1998 |
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
Topics: Acute Disease; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chronic Disease; Female; Genetic Diseases, Inborn; Genotype; Heterozygote; Homozygote; Humans; Hydrolases; Infant; Infant, Newborn; Liver; Mutation; Pedigree; Tyrosine | 1998 |
NTBC and alkaptonuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Cyclohexanones; Enzyme Inhibitors; Humans; Nitrobenzoates; Tyrosine | 1998 |
Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Cyclohexanones; Enzyme Inhibitors; Genetic Therapy; Humans; Hydrolases; Liver; Mice; Mice, Inbred C57BL; Mice, Knockout; Nitrobenzoates; Tyrosine | 1998 |
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; DNA; DNA Ligases; Fibroblasts; Heptanoates; Humans; Tyrosine | 1998 |
The kidney in children with tyrosinemia: sonographic, CT and biochemical findings.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Child; Child, Preschool; Follow-Up Studies; Humans; Infant; Kidney; Kidney Function Tests; Liver Transplantation; Male; Prognosis; Retrospective Studies; Tomography, X-Ray Computed; Tyrosine; Ultrasonography | 1999 |
Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Coagulation Disorders; Female; Humans; Infant; Liver Failure; Liver Transplantation; Male; Tyrosine | 1999 |
Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Genotype; Heptanoates; Heterozygote; Humans; Hydrolases; Mutation; Pedigree; Pregnancy; Prenatal Diagnosis; Tyrosine | 1999 |
Primary pneumococcal peritonitis associated with tyrosinaemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Peritonitis; Pneumonia, Pneumococcal; Streptococcus pneumoniae; Tyrosine | 1999 |
[Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acute Disease; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Cyclohexanones; Enzyme Inhibitors; Female; Follow-Up Studies; Heptanoates; Humans; Infant; Infant, Newborn; Liver Failure; Male; Methionine; Nitrobenzoates; Porphobilinogen Synthase; Treatment Outcome; Tyrosine | 1999 |
Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Blotting, Northern; Chromosome Banding; Chromosome Mapping; Chromosomes, Human, Pair 14; cis-trans-Isomerases; DNA; Female; Gene Expression; Genes; Genetic Variation; Humans; In Situ Hybridization, Fluorescence; Male; Mice; Mice, Inbred C57BL; Molecular Sequence Data; Promoter Regions, Genetic; RNA; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Tissue Distribution; Tyrosine | 1999 |
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: relevant changes with NTBC treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Coproporphyrins; Cyclohexanones; Enzyme Inhibitors; Female; Genetic Diseases, Inborn; Humans; Hydrolases; Nitrobenzoates; Tyrosine | 1999 |
NTBC as palliative treatment in chronic tyrosinaemia type I.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Cyclohexanones; Fatal Outcome; Humans; Male; Nitrobenzoates; Tyrosine | 1999 |
Serum type III procollagen in children with type I hereditary tyrosinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Disease Progression; Female; Humans; Infant; Liver Cirrhosis; Liver Diseases; Liver Neoplasms; Male; Procollagen; Tyrosine | 1999 |
Long-term follow up of a new case of hawkinsinuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acidosis, Renal Tubular; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cyclohexenes; Diagnosis, Differential; Follow-Up Studies; Fructose Intolerance; Growth Disorders; Humans; Infant; Liver Diseases; Male; Tyrosine | 1999 |
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
Topics: Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Dopamine; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Hypokinesia; Levodopa; Methoxyhydroxyphenylglycol; Methylation; Muscle Hypotonia; Tetrahydrofolates; Tyrosine | 2000 |
Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Corneal Diseases; Female; Humans; Infant; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine; Tyrosine Transaminase | 1977 |
Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome).
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Crystallization; Disease Models, Animal; Eye Diseases; Female; Hemolysis; Heterozygote; Humans; In Vitro Techniques; Infant; Infant, Newborn; Intellectual Disability; Liver; Lysosomes; Male; Rats; Skin Diseases; Syndrome; Tyrosine; Tyrosine Transaminase | 1978 |
[Hypertyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Tyrosine; Tyrosine Transaminase | 1978 |
[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child, Preschool; Corneal Opacity; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Keratoconjunctivitis; Keratoderma, Palmoplantar; Rats; Syndrome; Tyrosine; Tyrosine Transaminase; Vision Disorders | 1979 |
Parahydroxyphenylpyruvicacidemia in tyrosinosis.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Liver; Male; Phenylpyruvic Acids; Tyrosine; Tyrosine Transaminase | 1978 |
Hepatic enzymes of tyrosine metabolism in tyrosinemia II.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Foot Dermatoses; Humans; Keratoderma, Palmoplantar; Liver; Male; Middle Aged; Syndrome; Tyrosine; Tyrosine Transaminase | 1979 |
alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Fetal Proteins; Humans; Immunoelectrophoresis; Infant, Newborn; Mass Screening; Tyrosine | 1976 |
Pain insensitivity a metabolic disease.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Melanins; Pain Insensitivity, Congenital; Tyrosine | 1977 |
[Alpha1-fetoprotein: physiology, pathology and diagnosis especially in childhood (author's transl)].
Topics: Adolescent; Adult; Age Factors; alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Ataxia Telangiectasia; Carcinoma, Hepatocellular; Child; Child, Preschool; Digestive System; Female; Fetus; Hepatitis, Viral, Human; Humans; Infant; Infant, Newborn; Liver; Liver Neoplasms; Nephrotic Syndrome; Pregnancy; Prenatal Diagnosis; Radioimmunoassay; Teratoma; Tyrosine; Vitelline Membrane | 1977 |
Polystyrene tube immunoradiometric assay for human alpha1-fetoprotein, and its use for mass screening.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Female; Fetal Blood; Humans; Immunodiffusion; Infant; Infant, Newborn; Mass Screening; Pregnancy; Radioimmunoassay; Tyrosine | 1978 |
Liver fetal isozymes in hereditary tyrosinemia.
Topics: Adolescent; Adult; alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Fetus; Fructose-Bisphosphate Aldolase; Humans; Infant; Isoenzymes; Liver; Liver Regeneration; Pyruvate Kinase; Tyrosine | 1979 |
Tyrosinaemia in circumscribed palmo-plantar keratoderma-follow-up of a previously reported case.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Keratoderma, Palmoplantar; Tyrosine | 1976 |
[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Corneal Dystrophies, Hereditary; Humans; Infant; Intellectual Disability; Keratoderma, Palmoplantar; Male; Rats; Syndrome; Tyrosine | 1978 |
[Tyrosinemia and Richner-Hanhart syndrome (an autosomal recessive hereditary metabolic disease of childhood with bilateral dendritic pseudokeratitis, keratosis palmaris et plantaris and mental deficiency)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Intellectual Disability; Keratitis, Dendritic; Keratoderma, Palmoplantar; Syndrome; Tyrosine | 1978 |
Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Humans; Hydroxy Acids; Infant; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine | 1979 |
The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Female; Humans; Liver Neoplasms; Tyrosine | 1976 |
Tyrosinosis (tyrosinaemia).
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Humans; Liver; Middle Aged; Oxygenases; Tyrosine; Tyrosine Transaminase | 1975 |
On the enzymic defects in hereditary tyrosinemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Erythrocytes; Humans; Ketones; Liver; Porphobilinogen Synthase; Tyrosine | 1977 |
Evaluation of a state-wide neonatal screening programme.
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Australia; Evaluation Studies as Topic; Follow-Up Studies; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1979 |
Hereditary tyrosinaemia and diabetes mellitus.
Topics: Amino Acid Metabolism, Inborn Errors; Diabetes Complications; Humans; Infant; Male; Tyrosine | 1979 |
Tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver; Male; Pancreas; Tyrosine | 1979 |
[Hypertyrosinemia, Reye's syndrome, thymic dysplasia and adrenal atrophy].
Topics: Adrenal Glands; Amino Acid Metabolism, Inborn Errors; Atrophy; Female; Humans; Infant; Reye Syndrome; Thymus Gland; Tyrosine | 1979 |
[Hereditary tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Tyrosine | 1979 |
A syndrome of hereditary tyrosinemia in mink (Mustela vison Schreb.).
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Female; Male; Mink; Pedigree; Syndrome; Tyrosine | 1979 |
Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Bottle Feeding; England; Female; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Methionine; Milk Proteins; Tyrosine | 1979 |
Dietary restriction in inborn errors of amino acid metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Infant, Newborn; 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 |
Unusual pattern of metabolites in the urine of child with tyrosinemia: glyceraldehyde.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Gas; Glyceraldehyde; Humans; Mass Spectrometry; Tyrosine | 1977 |
[Prolonged hypertyrosinemia resistant to vitamins].
Topics: Amino Acid Metabolism, Inborn Errors; Drug Resistance; Female; Humans; Infant, Newborn; Pregnancy; Time Factors; Tyrosine; Vitamins | 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 |
[Presentation of a case of chronic type 1 tyrosinemia. Diet therapy and clinical outcome].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Hepatomegaly; Humans; Male; Rickets; Splenomegaly; Tyrosine | 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 |
[Frequency of transitorial tyrosinemia of the newborn infant].
Topics: Amino Acid Metabolism, Inborn Errors; Germany, East; Humans; Infant, Newborn; Metabolic Diseases; Tyrosine | 1978 |
Congenital tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Female; Humans; Infant; Kidney; Liver; Methionine; Pancreas; Tyrosine | 1978 |
Screening for inborn errors of metabolism: a multiple test program.
Topics: Amino Acid Metabolism, Inborn Errors; Ferric Compounds; Humans; Intellectual Disability; Mathematics; Metabolism, Inborn Errors; Nitroso Compounds; Phenylketonurias; Tyrosine | 1978 |
[Abnormalities in amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Phenylalanine; Tyrosine | 1978 |
The child with an unusual odor. A clinical resumé.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine | 1976 |
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 |
Urinary p-tyramine in hereditary tyrosinemia: I. Levels as compared to normal individuals, effect of diet, and relationship to urinary tyrosine.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Diet; Female; Humans; Oxygenases; Tyramine; Tyrosine | 1977 |
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Administration, Oral; Adolescent; Amino Acid Metabolism, Inborn Errors; Diet; Female; Humans; Neomycin; Oxygenases; Tyramine; Tyrosine | 1977 |
Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Catecholamines; Female; Humans; Hydro-Lyases; Levulinic Acids; Porphobilinogen Synthase; Porphyrias; Renin; Tyrosine | 1977 |
A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Chromatography, Gas; Cyclohexenes; Female; Heterozygote; Humans; Infant; Mass Spectrometry; Oxygenases; Spectrophotometry, Infrared; Tyrosine | 1977 |
[Disorders of tyrosine metabolism and their diagnostic value].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Tyrosine | 1977 |
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loads.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adult; Amino Acid Metabolism, Inborn Errors; Child; Deuterium; Female; Humans; Hydroxy Acids; Lactates; Male; Phenols; Phenylacetates; Phenylpyruvic Acids; Tyrosine | 1977 |
[Tyrosinosis. Electron mecroscopy of two cases (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Liver; Male; Tyrosine | 1977 |
[Hypertyrosinemia in premature infants. Preliminary note on plasma levels in 3 groups of subjects with various body weights].
Topics: Amino Acid Metabolism, Inborn Errors; Body Weight; Humans; Infant, Newborn; Infant, Premature, Diseases; Tyrosine | 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 |
[Screening for hyperphenylalaninemia and hypertyrosinemia in the newborn].
Topics: Amino Acid Metabolism, Inborn Errors; France; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylketonurias; Tyrosine | 1977 |
[Hereditary tyrosinemia: examination of the liver by electron microscopy of hepatic biopsies: observation of 7 cases].
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Liver; Male; Oxygenases; Tyrosine | 1977 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
Hyperphenylalaninemias and tyrosinemias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine | 1976 |
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Hair; Homocystinuria; Humans; Keratins; Phenylketonurias; Tyrosine | 1976 |
Corneal and skin changes in tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Corneal Diseases; Female; Humans; Skin Diseases; Tyrosine | 1976 |
[Neonatal transitory tyrosinemia and other types of tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Infant, Newborn, Diseases; Tyrosine | 1976 |
[Tyrosinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child, Preschool; Humans; Male; Tyrosine | 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 |
A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Breast Feeding; Dietary Proteins; Female; Growth Disorders; Humans; Infant; Infant Food; Peptides; Tyrosine | 1975 |
[Congenital disorders of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Fructose Intolerance; Glutathione Reductase; Humans; Infant; Male; Metabolism, Inborn Errors; Tyrosine | 1975 |
Crystals in corneal epithelial lesions of tyrosine-fed rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cornea; Corneal Diseases; Crystallization; Epithelium; Female; Microscopy, Electron; Microscopy, Polarization; Rats; Tyrosine | 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 |
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Australia; Cystinuria; Ethnicity; Europe; Galactosemias; Genetics, Population; Hartnup Disease; Histidine; Homocystinuria; Humans; Inbreeding; Infant, Newborn; Israel; Japan; Maple Syrup Urine Disease; Mass Screening; New Zealand; North America; Phenylketonurias; Tyrosine | 1975 |
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 |
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 |
[Tyrosinosis].
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Chronic Disease; Female; Growth Disorders; Hematuria; Humans; Infant, Newborn; Liver; Liver Diseases; Male; Methionine; Pregnancy; Tyrosine | 1976 |
Autoimmune thyroiditis in a case of tyrosinaemia type III.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Thyroiditis, Autoimmune; Tyrosine | 1992 |
Liver transplantation in tyrosinaemia type 1: the dilemma of timing the operation.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Child, Preschool; Female; Humans; Infant; Liver Neoplasms; Liver Transplantation; Lung Neoplasms; Male; Tyrosine | 1992 |
[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Phenylalanine; Tyrosine | 1992 |
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Female; Gene Frequency; Haplotypes; Humans; Hydrolases; Male; Pedigree; Polymorphism, Restriction Fragment Length; Tyrosine | 1992 |
Maternal tyrosinaemia II: management and successful outcome.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Humans; Infant, Newborn; Male; Pregnancy; Pregnancy Complications; Treatment Outcome; Tyrosine; Tyrosine Transaminase | 1992 |
Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Consanguinity; Female; Genetic Variation; Humans; Jews; Male; Pedigree; Phenotype; Tyrosine; Tyrosine Transaminase | 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 |
New treatment for tyrosinaemia.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Cyclohexanones; Humans; Infant; Kidney Diseases; Liver Diseases; Nitrobenzoates; Tyrosine | 1992 |
Neonatal screen for hereditary tyrosinaemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Humans; Infant, Newborn; Mass Screening; Porphobilinogen Synthase; Tyrosine | 1992 |
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
Topics: Adolescent; Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Cloning, Molecular; Exons; Female; Humans; Introns; Male; Molecular Sequence Data; Mutation; Restriction Mapping; Transfection; Tyrosine; Tyrosine Transaminase | 1992 |
Richner-Hanhart syndrome (oculocutaneous tyrosinaemia, tyrosinaemia type II)
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Humans; Infant; Keratoderma, Palmoplantar; Tyrosine; Tyrosine Transaminase | 1992 |
[Hereditary porphyria and acquired porphyria in the child. Five case reports].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Lead; Lead Poisoning; Male; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyrins; Protoporphyrins; Tyrosine | 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 |
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Female; Humans; Hydrolases; Infant; Male; Molecular Sequence Data; Mutation; RNA, Messenger; Tyrosine | 1992 |
Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Liver Transplantation; Time Factors; Tyrosine | 1992 |
[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Hyperglycemia; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Tyrosine | 1992 |
Impaired synthesis of taurine in a patient with tyrosinemia type I during the oral L-methionine loading test.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Hydrolases; Infant; Male; Methionine; Taurine; Tyrosine | 1992 |
Determination of creatinine and ultraviolet-absorbing amino acids and organic acids in urine by reversed-phase high-performance liquid chromatography.
Topics: Acidosis; Acids; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Creatinine; Humans; Indicators and Reagents; Infant, Newborn; Metabolism, Inborn Errors; Oculocerebrorenal Syndrome; Phenylketonurias; Spectrophotometry, Ultraviolet; Tyrosine | 1992 |
Hawkinsinuria in two families.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cyclohexanecarboxylic Acids; Cyclohexenes; Electrophoresis; Failure to Thrive; Female; Genes, Dominant; Humans; Infant; Male; Pedigree; Phenylpyruvic Acids; Pyrrolidonecarboxylic Acid; Tyrosine | 1992 |
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Chromosome Deletion; Disease Models, Animal; Heptanoates; Homozygote; Hydrolases; Kidney; Liver; Mice; Mice, Mutant Strains; Tyrosine | 1992 |
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Heterozygote; Homozygote; Humans; Hydrolases; Immunochemistry; Infant; Infant, Newborn; Liver; Male; Pedigree; Tyrosine | 1992 |
Pathological case of the month. Hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy; Child, Preschool; Female; Humans; Liver; Liver Transplantation; Tyrosine | 1992 |
Type I hereditary tyrosinaemia: presentation of 11 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child; Child, Preschool; Female; Fibroblasts; Humans; Hydrolases; Infant; Kidney Diseases; Liver Cirrhosis; Liver Neoplasms; Male; Rickets; Tyrosine | 1991 |
Applications of automated amino acid analysis using 9-fluorenylmethyl chloroformate.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Chromatography, High Pressure Liquid; Drug Stability; Fluorenes; Humans; Indicators and Reagents; Male; Microchemistry; Phenylketonurias; Quality Control; Tyrosine; Tyrosine Transaminase | 1991 |
An acute form of tyrosinemia type I with multiple intrahepatic mass lesions.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Biomarkers; Biopsy; Carcinoma, Hepatocellular; Diagnosis, Differential; Diagnostic Errors; Fatty Liver; Humans; Infant; Liver Neoplasms; Male; Tomography, X-Ray Computed; Tyrosine | 1990 |
Rapid improvement in the renal tubular dysfunction associated with tyrosinemia following hepatic replacement.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Kidney Tubules; Liver Transplantation; Postoperative Period; Time Factors; Tyrosine | 1992 |
Renal heme metabolism in hereditary tyrosinemia: use of succinylacetone in rat renal tubules.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cytochrome P-450 Enzyme System; Cytosol; Ferrochelatase; Heme; Heme Oxygenase (Decyclizing); Heptanoates; Kidney Cortex; Kidney Tubules; Male; Models, Biological; Porphyrins; Rats; Rats, Inbred Strains; Tyrosine | 1991 |
Liver transplantation in two children with tyrosinaemia type I: biochemical aspects.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Female; Humans; Infant; Liver Transplantation; Male; Tyrosine | 1991 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
Tyrosinemia II: report of an incomplete case and studies on the hyperkeratotic stratum corneum.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Heel; Humans; Keratoderma, Palmoplantar; Male; Patient Compliance; Recurrence; Tyrosine | 1991 |
Renal failure in adult patients with hereditary tyrosinaemia type I.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Glomerular Filtration Rate; Humans; Kidney; Kidney Failure, Chronic; Kidney Transplantation; Liver; Transplantation, Homologous; Tyrosine | 1991 |
Simultaneous determination of urinary creatinine and aromatic amino acids by cation-exchange chromatography with ultraviolet detection.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cations; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Creatinine; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1991 |
Early liver transplantation is indicated for tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Liver Diseases; Liver Transplantation; Male; Time Factors; 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 |
Fertility in couples heterozygous for the tyrosinemia gene in Saguenay Lac-St-Jean.
Topics: Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Family Characteristics; Female; Genetic Carrier Screening; Genetic Counseling; Humans; Infant, Newborn; Pregnancy; Quebec; Tyrosine | 1990 |
Tyrosinaemia type I with normal levels of plasma tyrosine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminolevulinic Acid; Female; Humans; Hydrolases; Infant; Methionine; Tyrosine | 1990 |
Richner-Hanhart's syndrome. Electron microscopic study of the skin lesion.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Keratoderma, Palmoplantar; Male; Skin; Syndrome; Tyrosine | 1990 |
Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Female; Follow-Up Studies; Humans; Liver Neoplasms; Liver Transplantation; Male; Time Factors; Tyrosine | 1990 |
Neurologic crises in hereditary tyrosinemia.
Topics: Acute Disease; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child; Child, Preschool; Humans; Hypesthesia; Intestinal Pseudo-Obstruction; Muscle Hypertonia; Pain; Peripheral Nerves; Peripheral Nervous System Diseases; Self Mutilation; Tyrosine; Vomiting | 1990 |
Chromosomal instability in hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child, Preschool; Chromosomes; Female; Humans; Karyotyping; Liver; Liver Neoplasms; Tyrosine | 1990 |
Liver cell dysplasia and early liver transplantation in hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Female; Humans; Infant; Liver; Liver Cirrhosis; Liver Neoplasms; Liver Transplantation; Male; Precancerous Conditions; Tyrosine | 1990 |
Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice: a murine model for hereditary tyrosinaemia type III.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Liver; Mice; Mice, Inbred Strains; Tyrosine | 1990 |
Hereditary tyrosinemia of chronic course without rickets and renal tubular dysfunction.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chronic Kidney Disease-Mineral and Bone Disorder; Female; Heme; Heptanoates; Humans; Hydrolases; Male; Porphobilinogen Synthase; Thrombocytopenia; Tyrosine | 1990 |
On rat renal aminolevulinate transport and metabolism in experimental Fanconi syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Animals; Biological Transport, Active; Fanconi Syndrome; Heme; Heptanoates; In Vitro Techniques; Kidney Tubules; Male; Maleates; Microvilli; Porphobilinogen Synthase; Rats; Rats, Inbred Strains; Tyrosine | 1990 |
The effects of early treatment of hereditary tyrosinemia type I in infancy by orthotopic liver transplantation.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydrolases; Infant; Liver Transplantation; Porphobilinogen Synthase; Time Factors; Tyrosine | 1990 |
First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Tyrosine | 1990 |
Succinylacetone and delta-aminolevulinic acid dehydratase in hereditary tyrosinemia: immunochemical study of the enzyme.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Electrophoresis, Polyacrylamide Gel; Erythrocytes; Heptanoates; Heptanoic Acids; Humans; Immunohistochemistry; Liver; Liver Transplantation; Male; Porphobilinogen Synthase; Radioimmunoassay; Tyrosine | 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 |
Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Cross-Sectional Studies; Genetic Testing; Heterozygote; Humans; Monte Carlo Method; Quebec; Tyrosine | 1990 |
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Humans; Hydrolases; Immunoblotting; Liver; Organ Specificity; Rats; Tyrosine | 1990 |
Visceral pathology of hereditary tyrosinemia type I.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Kidney; Liver; Myocardium; Pancreas; Tyrosine | 1990 |
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Clinical Enzyme Tests; Enzyme-Linked Immunosorbent Assay; Humans; Hydrolases; Infant, Newborn; Mass Screening; Tyrosine | 1990 |
Liver transplantation for hereditary tyrosinemia: the Quebec experience.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Prognosis; Quebec; Tyrosine | 1990 |
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Genetic Carrier Screening; Homogentisic Acid; Humans; Porphobilinogen Synthase; Tyrosine | 1990 |
Hepatic imaging with computed tomography of chronic tyrosinaemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Liver; Liver Diseases; Liver Transplantation; Tomography, X-Ray Computed; Tyrosine | 1990 |
The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.
Topics: Amino Acid Metabolism, Inborn Errors; Cloning, Molecular; Cosmids; Deoxyribonuclease HpaII; DNA Restriction Enzymes; Exons; Female; Genes; Haplotypes; Humans; Male; Pedigree; Phenotype; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Reference Values; Tyrosine; Tyrosine Transaminase | 1988 |
[New perspectives in liver-based metabolic errors: liver transplantation].
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycogen Storage Disease Type II; Humans; Hyperlipoproteinemia Type II; Infant, Newborn; Liver; Liver Cirrhosis; Liver Transplantation; Male; Metabolism, Inborn Errors; Tyrosine | 1989 |
Transient neonatal tyrosinaemia.
Topics: Adaptation, Psychological; Amino Acid Metabolism, Inborn Errors; Child; Cognition; Female; Follow-Up Studies; Humans; Infant, Newborn; Language Development; Learning; Male; Tyrosine | 1989 |
Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopsy; Carcinoma, Hepatocellular; Child; Child, Preschool; Chronic Disease; Humans; Infant; Infant, Newborn; Liver; Liver Cirrhosis; Liver Neoplasms; Liver Regeneration; Liver Transplantation; Tyrosine | 1989 |
Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child; Follow-Up Studies; Humans; Liver Function Tests; Liver Neoplasms; Liver Transplantation; Tyrosine | 1989 |
[Type II oculo-cutaneous tyrosinosis or Richner-Hanhart syndrome--apropos of a case].
Topics: Amino Acid Metabolism, Inborn Errors; Corneal Ulcer; Diagnostic Errors; Female; Humans; Infant; Keratitis, Dendritic; Keratosis; Syndrome; Tyrosine; Tyrosine Transaminase | 1989 |
Corneal organ cultures in tyrosinemia release chemotactic factors.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chemotactic Factors; Chemotaxis, Leukocyte; Chromatography, Gel; Chromatography, Ion Exchange; Cornea; Dextrans; Diet; Dose-Response Relationship, Immunologic; Keratitis; Male; Rats; Tyrosine | 1985 |
Theoretical mechanisms for synthesis of carcinogen-induced embryonic proteins: XIII. Mutational and non-mutational mechanisms as subsets of a more general mechanism. Part B--hereditary tyrosinemia.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Ethionine; Gene Expression Regulation; Humans; Liver Neoplasms; Mutation; Tyrosine | 1985 |
Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Creatinine; Female; Humans; Infant, Newborn; Male; Maple Syrup Urine Disease; Peritoneal Dialysis; Propionates; Tyrosine | 1989 |
Alcaptonuria with cleft lip.
Topics: Amino Acid Metabolism, Inborn Errors; Cleft Lip; Humans; Infant; Male; Tyrosine | 1989 |
[Significance of delta-aminolevulinic acid analysis in clinical tests].
Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Chromatography, Gas; Chromatography, High Pressure Liquid; Colorimetry; Humans; Lead Poisoning; Levulinic Acids; Liver Diseases; Porphyrias; Reference Values; Tyrosine | 1989 |
[Significance of delta-aminolevulinic acid dehydratase analysis in clinical tests].
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Hemolytic; Animals; Colorimetry; Erythrocytes; Fluorometry; Humans; Lead Poisoning; Porphobilinogen Synthase; Reference Values; Tyrosine | 1989 |
Early diagnosis of tyrosinemia type II.
Topics: Amino Acid Metabolism, Inborn Errors; Eye Diseases; Female; Humans; Infant; Keratitis; Light; Tyrosine | 1989 |
Hereditary tyrosinemia: unusual imaging distribution of gallium-67 citrate.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Citric Acid; Humans; Male; Radionuclide Imaging; Tyrosine | 1989 |
Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi; Female; Humans; Hydrolases; Pregnancy; Prenatal Diagnosis; Tyrosine | 1985 |
Early prenatal diagnosis of hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Tyrosine | 1985 |
Tyrosinemia II.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Dog Diseases; Dogs; Humans; Infant; Male; Middle Aged; Mink; Tyrosine; Tyrosine Transaminase | 1985 |
[Tyrosinemia II].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Tyrosine; Tyrosine Transaminase | 1985 |
Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Cholestasis, Intrahepatic; gamma-Glutamyltransferase; Humans; Infant; Liver; Male; Methionine; Tyrosine | 1986 |
New forms of hereditary tyrosinemia type II in mink: hepatic tyrosine aminotransferase defect.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Female; Liver; Male; Mink; Tyrosine; Tyrosine Transaminase | 1986 |
Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Hypertrophic; Child, Preschool; Humans; Infant; Tyrosine | 1987 |
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 16; Humans; Male; Pedigree; Polymorphism, Restriction Fragment Length; Tyrosine; Tyrosine Transaminase | 1987 |
Growth plate: roentgenologic findings in a case of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Growth Plate; Humans; Infant; Radiography; Tyrosine | 1989 |
[Incurable keratitis and chronic palmoplantar hyperkeratosis with hypertyrosinemia. Cure using a tyrosine-restricted diet. Type II tyrosinemia].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Keratitis; Keratoderma, Palmoplantar; Time Factors; Tyrosine | 1986 |
[Palmoplantar keratosis associated with keratitis: hereditary hypertyrosinemia treated by diet].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Keratitis; Keratoderma, Palmoplantar; Time Factors; Tyrosine | 1986 |
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Keratitis, Dendritic; Keratoderma, Palmoplantar; Male; Tyrosine | 1986 |
[4 cases of Richner-Hanhart syndrome (tyrosinemia type II) with neurological symptomatology in a Yugoslav family].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diseases in Twins; Female; Humans; Keratoderma, Palmoplantar; Male; Middle Aged; Nervous System Diseases; Neurologic Examination; Skin Transplantation; Syndrome; Tyrosine; Yugoslavia | 1988 |
Tyrosinaemia type II (Richner-Hanhart syndrome)--report of two cases treated with etretinate.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Etretinate; Humans; Keratoderma, Palmoplantar; Male; Tyrosine | 1987 |
Palmoplantar keratoderma with normal intelligence in tyrosinaemia II.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Keratitis; Keratoderma, Palmoplantar; Tyrosine | 1988 |
Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Child, Preschool; Female; Humans; Liver Neoplasms; Liver Transplantation; Tyrosine | 1986 |
Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II).
Topics: Amino Acid Metabolism, Inborn Errors; Cornea; Corneal Opacity; Corneal Transplantation; Cortisone; Female; Foot Dermatoses; Hand Dermatoses; Humans; Keratosis; Microscopy, Electron; Middle Aged; Tyrosine | 1988 |
[Sepsis, as the presenting form of hereditary tyrosinemia type I].
Topics: Amino Acid Metabolism, Inborn Errors; Escherichia coli Infections; Female; Humans; Infant; Tyrosine | 1988 |
Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; beta 2-Microglobulin; Female; Glycosuria; Heptanoates; Humans; Kidney Diseases; Kidney Tubules; Liver Diseases; Liver Transplantation; Phosphates; Tyrosine | 1986 |
Citrullinaemia: an infantile form with p-hydroxyphenylpyruvic and p-hydroxyphenyllactic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoates; Benzoic Acid; Citrulline; Female; Humans; Infant; Phenylpropionates; Phenylpyruvic Acids; Tyrosine | 1987 |
Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial origin.
Topics: Amino Acid Metabolism, Inborn Errors; Bacteria; Caproates; Child; Child, Preschool; Chromatography, Gas; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Lactates; Male; Phenylketonurias; Phenylpropionates; Stereoisomerism; Tyrosine | 1987 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1988 |
Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport; Carbohydrate Metabolism; Fanconi Syndrome; Heptanoates; Heptanoic Acids; Kidney Tubules, Proximal; Male; Microvilli; Rats; Rats, Inbred Strains; Sodium; Tyrosine | 1988 |
[Hypertyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; DNA; Humans; Hydrolases; Tyrosine | 1988 |
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Electrons; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Radioisotope Dilution Technique; Tyrosine | 1988 |
Hepatic regenerating nodules in hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Angiography; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Liver; Liver Cirrhosis; Liver Neoplasms; Male; Radionuclide Imaging; Tomography, X-Ray Computed; Tyrosine; Ultrasonography | 1987 |
Liver disorders in children: the indications for liver replacement in parenchymal and metabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Budd-Chiari Syndrome; Child; Cholangitis; Crigler-Najjar Syndrome; Hepatitis, Chronic; Hepatolenticular Degeneration; Humans; Infant; Liver Cirrhosis; Liver Diseases; Liver Transplantation; Porphyrias; Tyrosine | 1987 |
Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Humans; Hydrolases; Immunoenzyme Techniques; Infant; Infant, Newborn; Kidney; Liver; Lymphocytes; Male; Tyrosine | 1987 |
State screening for metabolic disorders in newborns.
Topics: Adrenal Hyperplasia, Congenital; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Biotinidase; Congenital Hypothyroidism; Cystic Fibrosis; Galactosemias; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine; United States | 1988 |
Corneal tyrosine crystals in transient neonatal tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cornea; Female; Humans; Infant, Newborn; Tyrosine | 1988 |
[Trial of indirect screening of tetrahydrobiopterin deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1987 |
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-Mass Spectrometry; Humans; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genetic Carrier Screening; Genetic Variation; Heptanoates; Humans; Hydrolases; Male; Pregnancy; Prenatal Diagnosis; Tyrosine | 1986 |
Delineation of human prometaphase paracentromeric regions using sequential GTG- and C-banding.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Centromere; Chromosome Banding; Chromosomes; Chromosomes, Human; Congenital Abnormalities; Female; Haploidy; Humans; Karyotyping; Lymphocytes; Male; Metaphase; Tyrosine; X Chromosome; Y Chromosome | 1987 |
Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation.
Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child, Preschool; Female; Heptanoates; Humans; Infant; Liver Transplantation; Male; Porphobilinogen Synthase; Tyrosine | 1987 |
Hereditary tyrosinemias (type I): a new vista on tyrosine toxicity and cancer.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Humans; Liver; Liver Neoplasms, Experimental; Neoplasms; Tyrosine | 1986 |
[Hereditary tyrosinemia-chronic type in a 38 year old female].
Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Female; Humans; Tyrosine | 1987 |
The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Conjunctiva; Cornea; Humans; Keratitis, Dendritic; Pedigree; Tyrosine | 1987 |
[Chronic hereditary tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Radiography; Tyrosine | 1987 |
[Congenital disorders of tyrosine metabolism and their correction in children with tumors].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Homogentisic Acid; Humans; Male; Maternal-Fetal Exchange; Neoplasms; Phenylpropionates; Pregnancy; Tyrosine | 1987 |
[Laboratory examinations for inborn errors of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Computers; Congenital Hypothyroidism; Galactosemias; Gas Chromatography-Mass Spectrometry; Homocystinuria; Humans; Japan; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1986 |
Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi; Clinical Enzyme Tests; Female; Humans; Hydrolases; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Tyrosine | 1986 |
Purification of mRNA coding for the enzyme deficient in hereditary tyrosinemia, fumarylacetoacetate hydrolase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Humans; Hydrolases; Liver; Polyribosomes; Protein Biosynthesis; Rats; Reticulocytes; RNA, Messenger; Tyrosine | 1986 |
[New observations on fetal liver cirrhosis associated with hereditary tyrosinemia].
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Animals; Female; Fetal Diseases; Guinea Pigs; Humans; Liver; Liver Cirrhosis; Pregnancy; Rats; S-Adenosylmethionine; Tyrosine | 1985 |
Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Glutathione; Heptanoates; Heptanoic Acids; Humans; Hydrogen-Ion Concentration; Hydrolases; Lysine; Porphobilinogen Synthase; Spectrophotometry, Ultraviolet; Tyrosine | 1985 |
Coagulation defect of congenital tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Coagulation Disorders; Child, Preschool; Humans; Male; Tyrosine | 1985 |
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heterozygote; Humans; Hydrolases; Male; Pedigree; Pregnancy; Prenatal Diagnosis; Tyrosine | 1985 |
Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Gene Frequency; Genes; Genetic Variation; Homozygote; Humans; Hydrolases; Lymphocytes; Male; Pedigree; Tyrosine | 1985 |
Tyrosinemia II. A large North Carolina kindred.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Humans; Infant; Male; Middle Aged; North Carolina; Pedigree; Skin Diseases; Syndrome; Tyrosine | 1985 |
Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Gas Chromatography-Mass Spectrometry; Humans; Pregnancy; Prenatal Diagnosis; Tyrosine | 1985 |
[Chronic hereditary tyrosinemia: a possible cause of rickets].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Femur; Hand; Humans; Humerus; Knee Joint; Male; Radiography; Rickets; Spine; Tibia; Tyrosine; Wrist | 1985 |
[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Disease Susceptibility; Female; Humans; Infant; Infant, Newborn; Male; Population Dynamics; Quebec; Registries; Rickets; Tyrosine; Vitamin D Deficiency | 1985 |
Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Erythrocytes; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Genotype; Heptanoates; Heptanoic Acids; Heterozygote; Homogentisic Acid; Homozygote; Humans; Hydrolases; Lymphocytes; Male; Porphobilinogen Synthase; Tyrosine | 1985 |
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Male; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1985 |
[Hereditary tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hypophosphatemia, Familial; Infant; Infant, Newborn; Kidney; Liver; Liver Cirrhosis; Male; Pregnancy; Tyrosine | 1985 |
Tyrosine hydroxylation in Parkinsonism.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Mixed Function Oxygenases; Parkinson Disease; Tyrosine | 1971 |
Unusual radiological changes in tyrosinosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Female; Femur; Humans; Radiography; Tyrosine | 1972 |
Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Epitopes; Genes; Genes, Regulator; Humans; Immunodiffusion; Kinetics; Liver; Lysophosphatidylcholines; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Rats; Sheep; Tyrosine | 1972 |
Eye and skin lesions in tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blister; Corneal Ulcer; Cytoplasm; Diet Therapy; Humans; Metabolism, Inborn Errors; Tyrosine; Tyrosine Transaminase | 1973 |
Significance of metabolic disorders in schizophrenia.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Dopamine; Female; Humans; Male; Methylation; Schizophrenia; Tyrosine | 1973 |
Problems in screening infants for defects of amino acid metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Color; Cystinuria; Evaluation Studies as Topic; Humans; Indicators and Reagents; Infant; Infant, Newborn; Infant, Premature; Mass Screening; Phenylketonurias; Rickets; Staining and Labeling; Tyrosine | 1973 |
Smoking and cancer.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Corneal Ulcer; Foot Dermatoses; Hand Dermatoses; Humans; Infant; Tyrosine | 1973 |
[Hereditary tyrosinemia and alpha-1-fetoprotein. I. Clinical value of alpha-fetoprotein in hereditary tyrosinemia].
Topics: Alpha-Globulins; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Fetal Proteins; Humans; Infant; Infant, Newborn; Liver; Liver Cirrhosis; Liver Regeneration; Male; Tyrosine | 1973 |
[Hereditary tyrosinemia and alpha-1-fetoprotein. II. Comparative tissue levels of alpha-fetoprotein in 2 cases of hereditary tyrosinemia. Considerations on the ontogenesis of human fetoprotein].
Topics: Alpha-Globulins; Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Fetal Proteins; Humans; Infant; Infant, Newborn; Liver; Liver Neoplasms; Liver Regeneration; Lymphoid Tissue; Morphogenesis; Teratoma; Tyrosine | 1973 |
Corneal erosions in tyrosinosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Consanguinity; Corneal Ulcer; Female; Follow-Up Studies; Humans; Intellectual Disability; Nystagmus, Pathologic; Photosensitivity Disorders; Tyrosine; Tyrosine Transaminase | 1973 |
Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Autopsy; Cattle; Drug Stability; Evaluation Studies as Topic; Female; Guinea Pigs; Humans; Infant; Isomerases; Kidney; Kinetics; Liver; Male; Methods; Microchemistry; Oxygenases; Phenylpyruvic Acids; Species Specificity; Spectrophotometry, Ultraviolet; Temperature; Time Factors; Tyrosine; Tyrosine Transaminase | 1974 |
Goitrous cretinism with chromosomal aberration and defect in thyroglobulin synthesis.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Gel; Chromosome Aberrations; Chromosome Disorders; Congenital Hypothyroidism; Diiodotyrosine; Goiter; Humans; Immunodiffusion; Iodine Radioisotopes; Male; Mosaicism; Thyroglobulin; Thyroid Function Tests; Thyroxine; Triiodothyronine; Tyrosine; Ultracentrifugation | 1966 |
Significance of hypermethionaemia in acute tyrosinosis.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Infant; Liver Diseases; Methionine; Phenotype; Tyrosine | 1968 |
Significance of hypermethionaemia in acute tyrosinosis.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Liver Diseases; Methionine; Phenotype; Tyrosine | 1968 |
Tyrosine crystals in bone-marrow.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Bone Marrow Examination; Child; Child, Preschool; Chromatography; Colorimetry; Female; Humans; Infant; Male; Middle Aged; Spectrum Analysis; Tyrosine | 1968 |
Fructosaemia-"acute-tyrosinosis".
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Fructose; Humans; Infant; Male; Methionine; Tyrosine | 1969 |
Argininosuccinic aciduria in hereditary hair diseases.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glutamates; Glutamine; Glycine; Hair; Histidine; Humans; Infant; Lysine; Male; Middle Aged; Serine; Skin Diseases; Threonine; Tyrosine; Valine | 1968 |
[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 |
Genetics of French-Canadians.
Topics: Amino Acid Metabolism, Inborn Errors; Canada; Consanguinity; Delivery of Health Care; Demography; France; Gene Frequency; Genetic Diseases, Inborn; Genetics, Population; Humans; Mucopolysaccharidosis IV; Socioeconomic Factors; Tyrosine | 1974 |
Set of simple side-room urine tests for detection of inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Copper; Glycosaminoglycans; Glycosuria; Humans; Infant; Keto Acids; Mass Screening; Metabolism, Inborn Errors; Microscopy; Proline; Tyrosine; Urine | 1968 |
Tyrosinemia with plantar and palmar keratosis and keratitis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Consanguinity; Diet Therapy; Female; Foot Dermatoses; Growth Disorders; Hand Dermatoses; Humans; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Keratosis; Male; Microscopy, Electron; Phenylacetates; Phenylpyruvic Acids; Renal Aminoacidurias; Tyrosine | 1973 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine | 1967 |
Screening for disorders of amino acid metabolism by thin-layer high voltage electrophoresis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Analgesics; Anti-Inflammatory Agents; Chromatography, Thin Layer; Cystinuria; Electrophoresis; Humans; Hydrogen-Ion Concentration; Indicators and Reagents; Indoles; Mass Screening; Membranes; Methods; Phenylketonurias; Silicon Dioxide; Sulfates; Tyrosine | 1968 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
[Dietetics of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine | 1971 |
[Greenish blue man. Primary amyloidosis. Tyrosinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Amyloidosis; Ascorbic Acid Deficiency; Autopsy; Digestive System; Humans; Malabsorption Syndromes; Male; Microscopy, Fluorescence; Middle Aged; Muscles; Myocardium; Phenylpyruvic Acids; Pigmentation Disorders; Syndrome; Tyrosine | 1972 |
[Diseases due to enzyme defects in childhood. Nosography and recent progress].
Topics: Amino Acid Metabolism, Inborn Errors; Coenzymes; Diet Therapy; Dietary Proteins; Glucose-6-Phosphatase; Glucosidases; Glucosyltransferases; Glycogen Storage Disease; Humans; Hydrocortisone; Metabolism, Inborn Errors; Pyridoxine; Thyroxine; Tyrosine; Vitamin B 12 | 1971 |
[Disorders in the tyrosine metabolism. II. Tyrosinemia - a congenital metabolic disorder].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Hypophosphatemia, Familial; Infant; Tyrosine | 1974 |
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 |
The enzymatic deficiency in tyrosinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Child, Preschool; Female; Guinea Pigs; Humans; Infant; L-Lactate Dehydrogenase; Liver; Male; Mixed Function Oxygenases; Oxidoreductases; Spectrophotometry; Transaminases; Tyrosine; Tyrosine Transaminase | 1967 |
Enzymatic studies in a case of hereditary tyrosinemia with hepatoma.
Topics: Acyltransferases; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Female; Humans; Isomerases; Levulinic Acids; Liver; Liver Neoplasms; Mixed Function Oxygenases; Tyrosine; Tyrosine Transaminase | 1969 |
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 |
Soluble tyrosine aminotransferase deficiency: an unusual cause of corneal ulcers.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Corneal Ulcer; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Tyrosine; Tyrosine Transaminase | 1972 |
The source of aromatic ketoacids in tyrosinaemia and phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Haplorhini; Humans; Isoenzymes; Keto Acids; Kidney; Liver; Mitochondria; Mixed Function Oxygenases; Muscles; Myocardium; Phenols; Phenylketonurias; Phenylpyruvic Acids; Rats; Tyrosine; Tyrosine Transaminase | 1972 |
The origin of urinary p-hydroxyphenylpyruvate in a patient with hepatic cytosol tyrosine aminotransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Cytoplasm; Humans; Imidazoles; Liver; Phenols; Phenylketonurias; Phenylpyruvic Acids; Spectrophotometry, Ultraviolet; Tyrosine; Tyrosine Transaminase | 1972 |
[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 |
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 |
A modified automated fluorometric method for tyrosine determination in blood spotted on paper: a mass screening procedure for tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Dialysis; Humans; Mass Screening; Methods; Microchemistry; Spectrometry, Fluorescence; 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 |
[Diet therapy of some inborn errors of metabolism].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine | 1974 |
Neonatal blood tyrosine elevations.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Tyrosine | 1972 |
Biochemical studies in a patient with "tyrosinosis".
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Male; Phenols; Phenylalanine; Tyrosine | 1974 |
[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 |
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Carbon Isotopes; Chemical Phenomena; Chemistry; Cysteine; Enzyme Activation; Female; Fetus; Haplorhini; Humans; Hydrogen-Ion Concentration; Kidney; Liver; Mixed Function Oxygenases; Opossums; Organ Specificity; Oxygen; Phenols; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Salmon; Species Specificity; Spectrophotometry, Ultraviolet; Tyrosine | 1972 |
[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 |
Neuropathological study of aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Middle Aged; Phenylketonurias; Renal Tubular Transport, Inborn Errors; Sex Factors; Tyrosine; Urea | 1972 |
[Existence of alpha-1-fetoprotein in 8 patients with hereditary tyrosinemia. Preliminary report].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fetal Proteins; Humans; Infant; Infant, Newborn; Liver; Tyrosine | 1972 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
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 |
Tyrosinosis: a new variant.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Pedigree; Syndrome; Tyrosine | 1973 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine | 1973 |
Studies of the isopropylation of amino acids and amines by gas chromatography-mass spectrometry.
Topics: Alkylation; Amines; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Gas; Dopamine; Female; Humans; Pregnancy; Spectrum Analysis; Tyrosine | 1973 |
[A system of early screening for inborn errors of metabolism: methods and results for hereditary tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Ion Exchange; Circadian Rhythm; Diet Therapy; Humans; Infant; Infant, Newborn; Male; Mass Screening; Methods; Quebec; Tyrosine | 1973 |
Skin lesions in tyrosinosis: response to dietary treatment.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopsy; Cytoplasm; Diet Therapy; Edema; Eosinophils; Erythema; Female; Fingers; Foot; Humans; Intellectual Disability; Keratosis; Tyrosine | 1973 |
Screening for tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Costs and Cost Analysis; Humans; Infant, Newborn; Massachusetts; Tyrosine | 1973 |
Urinary phenylalanine excretion in hyperphenylalaninemic children.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
[Hereditary tyrosinemia with hypermethioninemia. Study of the amino acids and keto acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography; Female; Humans; Keto Acids; Methionine; Tyrosine | 1973 |
[Acute metabolic liver in infants. Remarks on a practical approach].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Fructose; Galactosemias; Humans; Infant; Infant, Newborn; Liver; Liver Diseases; Tyrosine | 1973 |
[Tyrosinosis: effect of diet on the tubular reabsorption of phosphorus].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Infant; Kidney Tubules; Phosphorus; 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 |
An experimental study on the evaluation of amino-aciduria in premature (low birth weight) babies.
Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Birth Weight; Humans; Infant, Newborn; Infant, Premature, Diseases; Male; Taurine; Tyrosine | 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 |
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 |
Proceedings: Biochemical studies on a patient with features suggestive of hereditary tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Glucuronates; Humans; Infant; Mixed Function Oxygenases; Phenylpyruvic Acids; Tyrosine | 1974 |
Fluorometric measurement of tyrosine in serum and plasma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Blood Proteins; Child; Child, Preschool; Drug Stability; Evaluation Studies as Topic; Humans; Infant; Infant, Newborn; Infant, Premature; Methods; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence; Temperature; Time Factors; Tyrosine | 1974 |
[Detection of hereditary metabolic diseases in Quebec].
Topics: Amino Acid Metabolism, Inborn Errors; Fluorometry; Galactosemias; Government Agencies; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Quebec; Radioimmunoassay; Tyrosine | 1974 |
[Report on a case of hypertyrosinemia and tyrosinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Tyrosine | 1974 |
Hereditary tyrosinemia in the province of Quebec: prevalence at birth and geographic distribution.
Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Consanguinity; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Pregnancy; Quebec; Tyrosine | 1974 |
[Comparative study of urine and serum organic acids in newborn infants using gas chromatography].
Topics: Acids; Amino Acid Metabolism, Inborn Errors; Benzoates; Blood Chemical Analysis; Caprylates; Chromatography, Gas; Citrates; Female; Glutamates; Hippurates; Homovanillic Acid; Humans; Lactates; Male; Malonates; Mandelic Acids; Palmitic Acids; Phenylacetates; Stearic Acids; Succinates; Tyrosine; Umbilical Cord; Urine; Valerates | 1974 |
Tyrosinemia associated with hypermethioninemia and islet cell hyperplasia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperplasia; Infant; Islets of Langerhans; Methionine; Pancreatic Diseases; Tyrosine | 1967 |
Screening for inborn errors of metabolism. Report of a WHO Scientific Group.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Carrier State; Ceruloplasmin; Cholinesterases; Cystic Fibrosis; Diagnostic Services; Female; Galactosemias; Genetic Diseases, Inborn; Hepatolenticular Degeneration; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Porphyrias; Tyrosine; World Health Organization | 1968 |
Differentiation of glomerular, tubular, and normal proteinuria: determinations of urinary excretion of beta-2-macroglobulin, albumin, and total protein.
Topics: Acidosis, Renal Tubular; Albuminuria; Amino Acid Metabolism, Inborn Errors; Cadmium Poisoning; Creatinine; Cystinosis; Diagnosis, Differential; Female; Glomerulonephritis; Hepatolenticular Degeneration; Humans; Immune Sera; Immunodiffusion; Kidney Glomerulus; Kidney Tubules; Laurence-Moon Syndrome; Male; Molecular Weight; Nephritis, Hereditary; Nephrotic Syndrome; Proteinuria; Serum Globulins; Tyrosine | 1969 |
[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 |
The management of transient tyrosinemia of the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Infant, Premature; Tyrosine | 1967 |
[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 |
p-hydroxyphenylpyruvate hydroxylase activity in fine-needle aspiration liver biopsies in hereditary tyrosinemia.
Topics: Adolescent; Adult; Alanine Transaminase; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Biopsy; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; DNA; Female; Fluorometry; Glycerolphosphate Dehydrogenase; Humans; Infant; L-Lactate Dehydrogenase; Liver; Male; Mixed Function Oxygenases; Tyrosine | 1972 |
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens; Female; Glycine; Histidine; Isoleucine; Lysine; Ornithine; Serine; Starvation; Time Factors; Tyrosine | 1972 |
The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Deuterium; Humans; Hydroxylation; Infant; Lactates; Mass Spectrometry; Methods; Phenols; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1972 |
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.
Topics: Acetates; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Chromatography, Gas; Diet Therapy; Ethanol; Hippurates; Homogentisic Acid; Humans; Lactates; Mandelic Acids; Methods; Phenols; Phenylacetates; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1972 |
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 |
[Infantile cirrhosis associated with neoproduction of alpha-fetoprotein. Further perspectives in hereditary tyrosinemia].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diagnosis, Differential; Fetal Proteins; Humans; Immunoelectrophoresis; Liver Cirrhosis; Liver Regeneration; Male; 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 |
Genetic failure of fetal amino acid "justification": a common basis for many forms of metabolic, nutritional, and "nonspecific" mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Developing Countries; Dietary Proteins; Female; Fetus; Heterozygote; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Nutrition Disorders; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Protein Biosynthesis; Tyrosine | 1972 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine | 1972 |
Absorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy; Celiac Disease; Dipeptides; Glycine; Hartnup Disease; Histidine; Humans; Infant; Intestinal Absorption; Intestine, Small; Jejunum; Male; Peptides; Tyrosine | 1972 |
Neonatal hepatitis in premature infants simulating hereditary tyrosinosis.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Anemia; Ascorbic Acid; Diagnosis, Differential; Hepatitis; Humans; Infant, Newborn; Infant, Premature, Diseases; Jaundice, Neonatal; Male; Rickets; Tyrosine | 1971 |
Tyrosinosis: a patient without liver or renal disease.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Humans; Intellectual Disability; Kidney Diseases; Lactates; Liver; Liver Diseases; Male; Mixed Function Oxygenases; Phenylacetates; Phenylpyruvic Acids; Tyrosine | 1971 |
[Treatment of amino acid metabolism anomalies].
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Phenylketonurias; Tyrosine | 1971 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 1971 |
Urinary phenolic acids in tyrosinemia. Identification and quantitation by gas chromatography-mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Chromatography, Paper; Diet Therapy; Female; Humans; Infant; Lactates; Male; Mass Spectrometry; Phenols; Phenylacetates; Phenylpyruvic Acids; Tyrosine | 1971 |
Screening for several amino acidopathies in neonates in Birmingham by plasma chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Costs and Cost Analysis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Postal Service; Tyrosine | 1971 |
Experience with a screening service, using the Guthrie test, in the north-west and north-east metropolitan regions.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Homocystinuria; Humans; Infant; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Plasma amino acid screening in the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Infant, Newborn; Mass Screening; Methods; Phenylketonurias; Tyrosine | 1971 |
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Hyperlipidemias; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylketonurias; Proline; Tyrosine | 1971 |
[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 |
Tyrosinosis: report of a case demonstrating in vivo delay in tyrosine breakdown and excess renal loss of insulin.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Isotopes; Diet Therapy; Female; Humans; Infant; Insulin; Prognosis; Tyrosine | 1971 |
A method of in vivo investigation of amino acid metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biodegradation, Environmental; Carbon Dioxide; Carbon Isotopes; Female; Humans; 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 |
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 |
Studies on urinary phenolic compounds in man. I. Excretion of p-hydroxy-mandelic acid by man.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Disulfiram; Humans; In Vitro Techniques; Mandelic Acids; Methyldopa; Neuroblastoma; Octopamine; Phenelzine; Phenylketonurias; Thyroxine; Triiodothyronine; Tyrosine; Urine | 1965 |
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 |
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 |
[Tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Histocytochemistry; Humans; Infant; Infant, Newborn; 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 |
Hereditary tyrosinemia and abnormal pyrrole metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Fructose; Humans; Infant; Levulinic Acids; Liver Cirrhosis; Methionine; Oxidoreductases; Porphyrias; Porphyrins; Pyrroles; Renal Tubular Transport, Inborn Errors; Tyrosine | 1970 |
[Hereditary tyrosinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Male; Quebec; Tyrosine | 1970 |
Neonatal hyperphenylalaninemia: a differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Phenylpyruvic Acids; Prognosis; Transaminases; Tyrosine | 1970 |
Cutaneous manifestations of disorders of metabolism of phenylalanine-tyrosine.
Topics: Albinism; Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Pigmentation Disorders; Skin Manifestations; Tyrosine | 1971 |
A rapid procedure for the determination of phenylalanine and tyrosine from blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Autoanalysis; Chromatography, Ion Exchange; Horses; Hot Temperature; Humans; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
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 |
[Tyrosinosis (apropos of a further case)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver Cirrhosis; Male; Tyrosine | 1971 |
Albumin synthesis rates in patients with hypoproteinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anaphylaxis; Anorexia Nervosa; Bile Ducts; Child; Child, Preschool; Chromatography, Gel; Colitis, Ulcerative; Cystic Fibrosis; Female; Glomerulonephritis; Humans; Hypoproteinemia; Infant; Injections, Intravenous; Intellectual Disability; Kinetics; Liver; Liver Cirrhosis; Liver Cirrhosis, Biliary; Liver Diseases; Male; Methionine; Nephrotic Syndrome; Psychomotor Disorders; Purpura; Radioisotopes; Selenium; Serum Albumin; Spectrophotometry; Tyrosine | 1971 |
A case of tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Tyrosine | 1967 |
Methionine induction of experimental tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromosome Aberrations; Chromosome Disorders; Guinea Pigs; Methionine; Pancreas; Tyrosine | 1967 |
[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 |
[Phenylpyruvic oligophrenia and tyrosinosis. Biochemical research on one family (apropos of a family originally from a village in Southern Italy)].
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Italy; Male; Middle Aged; Pedigree; Phenylketonurias; Tyrosine | 1967 |
Tyrosinosis.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Tyrosine | 1968 |
Transient tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Phenylalanine; Phenylketonurias; Terminology as Topic; Tyrosine | 1968 |
Neonatal tyrosinaemia: a follow-up study.
Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Body Height; Body Weight; Child, Preschool; Female; Follow-Up Studies; Gestational Age; Growth; Humans; Infant; Infant, Newborn; Infant, Premature, Diseases; Intellectual Disability; Intelligence Tests; Male; 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 |
An exceptional case of tyrosinosis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ascorbic Acid; Cataract; Female; Humans; Intellectual Disability; Mandelic Acids; Methionine; Mixed Function Oxygenases; Phenylacetates; Phenylpyruvic Acids; Tyrosine | 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 |
[Hereditary tyrosinemia with tyrosiluria. Study of 44 cases in infants].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Liver Cirrhosis; Quebec; Tyrosine | 1968 |
Hereditary tyrosinemia in a French Canadian isolate.
Topics: Amino Acid Metabolism, Inborn Errors; Chromosomes; Female; Genotype; Humans; Male; Pedigree; Quebec; Sex Chromosomes; Tyrosine | 1969 |
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 |
Plasma amino acid disturbance in infancy. I: Hypermethioninaemia and transient tyrosinaemia.
Topics: Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Anemia; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Methionine; Pregnancy; 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 |
Tyrosinosis. I. Clinical, radiological and biochemical aspects.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Proteins; Child; Child, Preschool; Chromatography; Female; Humans; Infant; Male; Phosphates; Tyrosine | 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 |
Investigation of ketoacidurias by two-dimensional paper chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Diet; Female; Histidine; Humans; Infant; Keto Acids; Male; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1969 |
Urinary p-tyramine excretion in hypertyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Feces; Fluorometry; Humans; Infant, Newborn; Infant, Premature, Diseases; Tyramine; Tyrosine | 1969 |
Transient tyrosinemia in full-term infants.
Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Diagnosis, Differential; Female; Gestational Age; Humans; Infant, Newborn; Infant, Newborn, Diseases; Massachusetts; Pregnancy; Tyrosine | 1969 |
A rapid and simple thin-layer chromatographic method for amino acids in blood.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Protein Disorders; Cellulose; Chromatography, Paper; Chromatography, Thin Layer; Humans; Infant; Isoleucine; Leucine; Mass Screening; Methods; Time Factors; Tyrosine; Valine | 1969 |
[Apropos of a case of tyrosinuria with congenital cirrhosis and tubulopathy].
Topics: Amino Acid Metabolism, Inborn Errors; Dwarfism; Fanconi Syndrome; Female; Hepatomegaly; Humans; Liver Cirrhosis; Middle Aged; Splenomegaly; Tyrosine | 1965 |
Tyrosinosis. A study of 6 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Chronic Kidney Disease-Mineral and Bone Disorder; Diet; Female; Humans; Infant; Kidney Diseases; Liver Cirrhosis; Male; Phenylpyruvic Acids; Radiography; Tyrosine; Urine | 1966 |
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 |
[Studies on the nutritive dependency of tyrosine metabolism disorders in premature infants].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Infant, Premature, Diseases; Tyrosine | 1966 |