methionine has been researched along with Amino Acid Metabolism Disorders, Inborn in 247 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 166 (67.21) | 18.7374 |
| 1990's | 32 (12.96) | 18.2507 |
| 2000's | 15 (6.07) | 29.6817 |
| 2010's | 24 (9.72) | 24.3611 |
| 2020's | 10 (4.05) | 2.80 |
| Authors | Studies |
|---|---|
| Baker, PR; Berry, SA; Ketteridge, D; Kripps, KA; Larson, AA; McCandless, SE; Mirsky, DM; Nguyen, H; Rosenblatt, DS; Sremba, L; Van Hove, JLK; Watkins, D; Wright, EL | 1 |
| Bera, N; Chatterjee, J; Hazra, R; Mukhopadhyay, A; Nandi, PK; Nandi, S; Sarkar, N | 1 |
| Jia, C; Jia, L; Li, X; Liu, S; Lv, S; Ni, M; Su, L; Wang, L; Zhao, D; Zhu, X | 1 |
| Freisinger, P; Grünert, SC; Hannibal, L; Hübner, V; Janzen, N | 1 |
| Cheng, W; Jiang, T; Ma, D; Sun, Y; Wang, Y; Zhang, Z | 1 |
| Carvalho, FB; de Mattos, BDS; de Souza, AÁ; Fernandes, MDC; Moreira, DS; Rahmeier, F; Siebert, C; Soares, MSP; Spanevello, RM; Spohr, L; Stefanello, FM; Tavares, RG; Wyse, ATS | 1 |
| Hayashi, M; Inagaki, J; Inagaki, K; Okajima, T; Okawa, A; Tamura, T | 1 |
| Bona, NP; Braganhol, E; Deon, M; do Couto, CAT; Franceschi, TS; Pedra, NS; Soares, MSP; Spanevello, RM; Spohr, L; Stefanello, FM; Teixeira, FC; Vargas, CR | 1 |
| Stipanuk, MH | 1 |
| Bouvier, D; Brailova, M; Minet-Quinard, R; Regnier, A; Sapin, V; Szymanowski, M | 1 |
| Barbosa, S; da Luz Soster, PR; Dos Santos, TM; Faccioni-Heuser, MC; Partata, WA; Rodrigues, AF; Rohden, F; Schweinberger, BM; Wyse, ATS | 1 |
| Akamine, S; Fukai, R; Hara, T; Ishizaki, Y; Kimura, M; Koga, H; Matsumoto, N; Miyake, N; Ohga, S; Ohkubo, K; Saitsu, H; Sakai, Y; Sakamoto, O; Sakata, A; Sanefuji, M; Torisu, H; Yamaguchi, S | 1 |
| Afroze, B; Ali, ZZ; Fatimah, M; Jafri, L; Jamil, A; Khan, AH; Majid, H; Yusufzai, N | 1 |
| Kido, J; Kitajima, M; Matsumoto, S; Mitsubuchi, H; Momosaki, K; Nakamura, K; Sawada, T; Suzuki, Y; Uetani, H | 1 |
| Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M | 1 |
| Dong, H; Fan, Y; Hu, X; Li, N; Liu, C | 1 |
| Barschak, AG; Costa, MZ; da Silva Scherer, EB; da Silva, TM; de Souza Wyse, AT; Flores, NP; Saffi, J; Schmitz, F; Spanevello, RM; Stefanello, FM; Viau, CM | 1 |
| Hagimoto, R; Hirabayashi, K; Ide, Y; Kinoshita, T; Koike, K; Mudd, SH; Shiohara, M; Sueki, A; Takeuchi, K; Yabuhara, A; Yamada, K | 1 |
| Balmaseda, E; Bóveda, MD; Castiñeiras, DE; Corrales, FJ; Couce, ML; Fernández-Marmiesse, A; Fraga, JM; García-Jimémez, C; Mudd, SH; Vives, I | 1 |
| Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H | 1 |
| Furujo, M; Nagao, M; Tanaka, T | 1 |
| Scherer, E; Schweinberger, BM; Schwieder, L; Sitta, A; Vargas, CR; Wyse, AT | 1 |
| Carrasco, M; Castro, C; Lu, SC; Luka, Z; Martínez-Chantar, ML; Mato, JM; Micó, JA; Murillo-Carretero, M; Ortega-Martínez, S; Rabaneda, LG; Wagner, C; Woodhoo, A | 1 |
| Bogo, MR; Bonan, CD; de Oliveira, DL; Mussulini, BHM; Rico, EP; Rosemberg, DB; Savio, LEB; Vuaden, FC; Wyse, ATS | 1 |
| Berry, SA; Bishop, L; Fair, AL; Gallant, N; Gavrilov, D; Hopkin, RJ; Leslie, ND; Matern, D; Oglesbee, D; Prada, CE; Raymond, K; Rinaldo, P; Rosenblatt, DS; Schimmenti, LA; Sellars, EA; Tortorelli, S; Wong, D | 1 |
| Levy, HL | 2 |
| Baldissarelli, J; da Silveira Mattos, B; Debom, GN; Morsch, VM; Oliveira, PS; Polachini, CR; Schetinger, MR; Soares, MS; Spanevello, RM; Stefanello, FM; Tavares, RG | 1 |
| Bratkovic, D; Couper, R; Davidson, GP; Fahy, R; Fletcher, JM; Mackay, RJ; Ranieri, E | 1 |
| Jirosová, J; Kand'ár, R; Sladká, M; Záková, P | 1 |
| Barić, I | 1 |
| Ataullakhanov, FI; Banerjee, R; Martinov, MV; Vitvitsky, VM | 1 |
| Mudd, SH | 1 |
| Bogo, MR; Bonan, CD; da Cunha, MJ; Ferreira, AG; Pereira, TC; Stefanello, FM; Wyse, AT | 1 |
| Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP | 1 |
| Balasubramaniam, S; Bjursell, MK; Blom, HJ; Brandberg, G; Cayuela, JA; Engvall, ML; Falkenberg, M; Gustafsson, CM; Halldin, M; Jakobs, C; Lesko, N; Lundeberg, J; Smith, D; Struys, E; von Döbeln, U; Wedell, A | 1 |
| Furujo, M; Kinoshita, M; Kubo, T; Nagao, M | 2 |
| Mudd, SH; Stabler, SP | 1 |
| CSALAY, L; HORVATH, G; SOS, J | 1 |
| FARBER, E; SIDRANSKY, H | 1 |
| CHILDS, B; NYHAN, WL | 1 |
| GERRITSEN, T; WAISMAN, HA | 1 |
| ANTENER, I; HOOFT, C; OYAERT, W; SNOECK, J; TIMMERMANS, J; VANDENHENDE, C | 1 |
| FINKELSTEIN, JD; IRREVERRE, F; LASTER, L; MUDD, SH | 2 |
| HOLT, LE; NORTON, PM; ROITMAN, E; SNYDERMAN, SE | 1 |
| BRENTON, DP; CUSWORTH, DC; GAULL, GE | 2 |
| CARSON, NA; DENT, CE; FIELD, CM; GAULL, GE | 1 |
| EFRON, ML | 2 |
| DIXON, GH; DOLMAN, CL; HANSEN, S; HARDWICK, DF; PERRY, TL | 1 |
| Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C | 1 |
| Chiang, SC; Chien, YH; Huang, A; Hwu, WL | 1 |
| Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK | 1 |
| Baris, H; Eichler, FS; Grant, PE; Hanley, CA; Hoda, S; Krishnamoorthy, KS; Lee, MS; Shih, VE; Tan, WH | 1 |
| Hamada, H; Kawamoto, M; Mochizuki, S; Sutoh, M; Tsuji, M; Yamada, T; Yuge, O | 1 |
| Lawson-Yuen, A; Levy, HL | 1 |
| Finkelstein, JD | 1 |
| Coppus, AW; Egger, JI; Fekkes, D; Tuinier, S; van Duijn, CM; Verhoeven, WM | 1 |
| Boelen, A; Bosch, AM; Duran, M; Kemper-Proper, EA; Oey-Spauwen, MJ; ten Hoedt, AE; van Kempen, AA; Wijburg, FA | 1 |
| Schneede, J; Ueland, PM | 1 |
| Bóveda, MD; Castiñeiras, DE; Corrales, FJ; Couce, ML; Fraga, JM; Mora, MI; Mudd, SH | 1 |
| Anders, PW; Curtius, HC; Prader, A; Tancredi, F; Werder, EA | 1 |
| Waisman, HA | 1 |
| Frimpter, GW; Fuchs, F; Greenberg, AJ; Hilgartner, M | 1 |
| Halvorsen, S | 1 |
| Carson, NA | 2 |
| Larochelle, J; Scriver, CR; Silverberg, M | 1 |
| Frimpter, GW; Greenberg, AJ | 1 |
| Hansen, S; MacDougall, L; Perry, TL; Warrington, PD | 1 |
| Martenet, AC; Speiser, P; Witmer, R | 1 |
| Haust, MD; Partington, MW | 1 |
| Chase, HP; Goodman, SI; O'Brien, D | 1 |
| Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y | 1 |
| Tamimie, HS | 1 |
| Carton, D; Hooft, C | 1 |
| Arakawa, T; Hirono, H; Tada, K; Yoshida, T | 1 |
| Schneiderman, LJ | 1 |
| Haddow, JE; Hostetter, MK; Knight, GJ; Levy, HL; Winter, HS | 1 |
| Benevenga, NJ; Steele, RD | 1 |
| Cooper, AJ | 1 |
| Bishop, AJ; Cooper, BA; Haworth, JC; Rosenblatt, DS; Schroeder, ML; Schuh, S; Seargeant, LE | 1 |
| Buchman, M; Jehan, P; Odièvre, M | 1 |
| Dowton, SB; Fulton, AB; Levy, HL; Robb, RM | 1 |
| Congdon, PJ; Green, A; Haigh, D; Pollitt, RJ; Smith, R | 1 |
| Mendelson, IS | 1 |
| Milner, RD; Wirdnam, PK | 1 |
| Mori, M; Nakao, T; Nakata, F; Oyanagi, K; Tsuchiyama, A; Tsugawa, S; Uetsuji, N | 1 |
| Bender, AN; Gaull, GE; Schaffner, F; Tallan, HH; Vulovic, D | 1 |
| Paunier, L | 1 |
| Chou, JY; Huang, S; Lei, KJ; Levy, HL; Mudd, SH; Ubagai, T | 1 |
| Boujet, C; Buist, N; Davidson-Mundt, A; Hudgins, L; Levy, HL; Mudd, SH; Nagao, M; Oyanagi, K; Tangerman, A; Wilson, WG | 1 |
| Blom, HJ; Boers, GH; Demacker, PN; Hak-Lemmers, HL; Kleinveld, HA; Te Poele-Pothoff, MT; Trijbels, JM | 1 |
| Blom, HJ; Boers, GH; Franken, DG; Jakobs, C; Kluft, C; Rauwerda, JA; Stehouwert, CD; Van den Berg, M; Van Kamp, GJ | 1 |
| Endo, F; Hoshide, R; Ishikawa, K; Kato, I; Kiwaki, K; Koike, E; Komaki, S; Matsuura, T; Oyanagi, K; Suzuki, Y | 1 |
| Blom, HJ; Boers, GH; Borm, GF; Eskes, TK; Steegers-Theunissen, RP; Thomas, CM; Trijbels, FJ; Wouters, MG | 1 |
| Rees, MM; Rodgers, GM | 1 |
| Chamberlin, ME; Chou, JY; Leonard, JV; Mudd, SH; Ubagai, T; Wilson, WG | 1 |
| Kang, SS; Wong, PW | 1 |
| Blom, HJ; Boers, GH; Cruysberg, JR; Franken, DG; Hamel, BC; Trijbels, FJ | 1 |
| Blom, HJ; Bos, GM; Brouwer, IA; den Heijer, M; Gerrits, WB | 1 |
| Fowler, B; Wenzel, F; Whitehouse, C; Wraith, JE | 1 |
| Deprez, M; Fridman, V; Gosseye, S; Hubert, AF; Lambert, Y; Lombet, J; Rigo, J; Sokal, E; Verloes, A | 1 |
| Fowler, B | 1 |
| Nagao, M; Oyanagi, K | 1 |
| Carreras, LO; Falcón, CR | 1 |
| Hase, Y | 1 |
| Nagao, M | 1 |
| Bamba, T; Ihara, T | 1 |
| Fukuyama, Y; Hirayama, H; Ishikawa, Y; Li Wei, K; Nozawa, T | 1 |
| Bottiglieri, T; Charles, HC; Gray, L; Hyland, K; Jaeken, J; Kahler, SG; Lazeyras, F; Van Hove, JL; Zeisel, SH | 1 |
| Barkaoui, E; Bernard, O; Debray, D; Habès, D; Ogier, H | 1 |
| Borrone, C; Caruso, U; Di Rocco, M; Fantasia, AR; Gibson, KM; Lamantea, E; Lupino, S; Moroni, I | 1 |
| Hughes, JV; Johnson, TC | 1 |
| Broquist, HP | 1 |
| Clayton, BE; Ersser, RS; Lilly, P; Seakins, JW; Whiteman, PD | 1 |
| Gutberlet, RL; Kim, CH; Meny, RG; Morris, C; Ozand, P | 1 |
| Zammarchi, E | 1 |
| Kitagawa, T | 1 |
| Matolon, R; Michals, K; Wong, PW | 1 |
| Cohen, BE; Crispin, M; Horwitz, A; Keren, G; Legum, C; Szeinberg, A | 1 |
| Abzug-Horowitz, S; Russell, A; Statter, M | 1 |
| de Cespedes, C; Estrada, Y; Loria, AR; Nyhan, WL; Sweetman, L | 1 |
| Gaull, GE | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M | 1 |
| Antener, I; Beaudoing, A; Bost, M; Dieterlen, M; Frappat, P; Gout, JP; Serre, JC | 1 |
| Caillat, D; Favier, A | 1 |
| Frimpter, GW | 2 |
| McCully, KS | 2 |
| Finkelstein, JD; Kyle, WE; Martin, JJ | 1 |
| Biggart, JD; Bittles, AH; Carson, NA; Donovan, D | 1 |
| Bakker, HD; van Sprang, FJ; Wadman, SK | 1 |
| Haraguchi, H | 1 |
| Klusácek, D; Pintera, J; Valík, D | 1 |
| Bernardini, I; Blom, HJ; Davidson, AJ; Finkelstein, JD; Goodman, SI; Luder, AS; Martin, JJ; Mudd, SH; Tangerman, A; Trijbels, JM | 1 |
| Arata, J; Danks, DM; Endo, F; Kitano, A; Lapière, CM; Matsuda, I; Sei, Y; Tanoue, A; Wadman, SK | 1 |
| Miller, JW; Selhub, J | 1 |
| da Silva, A; de Almeida, IT; de Sousa, JS; Duran, M; Leandro, PP; Silva, MF; Silveira, C | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Bain, MD; Bingham, P; Chalmers, RA; Jones, M; Purkiss, P; Stacey, TE | 1 |
| Brunet, C; Charpentier, C; Labrune, P; Lutun, H; Odievre, M; Perignon, JL; Rault, M; Saudubray, JM | 1 |
| Bartlett, K; Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Ameen, VZ; Powell, GK; Rassin, DK | 1 |
| Ikeda, Y; Tanaka, K | 1 |
| Backlund, P; Bernardini, I; Finkelstein, JD; Gahl, WA; Hoofnagle, JH; Ishak, KG; Martin, JJ; Mudd, SH; Mullen, KD | 1 |
| Ikeda, Y; Keese, SM; Tanaka, K | 1 |
| Furukawa, S; Ito, M; Kuroda, Y; Miyao, M; Naito, E; Takeda, E; Tomita, T; Toshima, K; Watanabe, T | 1 |
| Turner, B | 1 |
| Gaull, GE; Rassin, DK; Sturman, JA | 1 |
| Scriver, CR | 1 |
| Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B | 1 |
| Gjessing, LR; Halvorsen, S; Lindemann, R; Merton, B | 1 |
| Lutz, P | 1 |
| Donnell, GN; Koch, R; Lieberman, E; Shaw, KN | 1 |
| Royer, P | 1 |
| Bakker, HD; de Bree, PK; van Sprang, FJ; Wadman, SK | 1 |
| Gaull, GE; Harris, RC; Rassin, DK; Solomon, GE; Sturman, JA | 1 |
| Fekete, G | 1 |
| Century, B; Natelson, S; Vorkink, WP | 1 |
| Gaull, GE; Tallan, HH | 1 |
| Hammuri, M; Scheibenreiter, S | 1 |
| Perrone, L | 1 |
| Monnens, LA; Schretlen, ED; Sengers, RC; Trijbels, JM; van der Zee, SP; Vrenken, JA | 1 |
| Bremer, HJ; Przyrembel, H | 1 |
| Boisse, J; Moatti, N | 1 |
| Fleisher, LD; Gaull, GE | 1 |
| Bremer, HJ; Endres, W | 1 |
| Bickel, H; Lutz, P; Nützenadel, W | 1 |
| Hakami, N; Sagerson, RN; Scott, CR; Teng, CC | 1 |
| Bergner, H; Münchmeyer, R; Simon, O | 1 |
| Crawhall, JC; Purkiss, P; Stanbury, JB | 1 |
| Coignet, J; Laurent, B | 1 |
| Tomaszewski, L | 1 |
| Vanheule, R | 1 |
| de Groot, CJ; Grüttner, R; Koepp, P; Rybak, C | 1 |
| Gaull, G; Schaffner, F; Sturman, JA | 1 |
| Bremer, HJ; Heymer, D; Hilgarth, R; Krüger, C; Leupold, D; Peiffer, J; Przyrembel, H | 1 |
| Perry, TL | 1 |
| Ampola, MG; Efron, ML | 1 |
| Chatagner, F | 1 |
| Menne, F | 1 |
| Boisse, J | 1 |
| Habancová, M; Hunka, R; Mrskos, A; Pospísil, R; Srácková, D | 1 |
| Dickinson, JP; Drayer, NM | 1 |
| Brown, DA; Turner, B; Wilcken, B | 1 |
| Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN | 1 |
| Rey, J | 1 |
| Buffa, V; Guanti, G; Pierro, M; Tancredi, F | 1 |
| Barkin, E; Levy, HL | 1 |
| Griffiths, MI | 1 |
| Clayton, BE | 1 |
| Raine, DN | 1 |
| Schön, R; Thalhammer, O | 1 |
| Copeland, W; Kelly, S; Leikhim, E | 1 |
| Berger, R; Broyer, M | 1 |
| Chiang-Teng, C; Clark, SH; Dassell, SW; Scott, CR; Swedberg, KR | 1 |
| De Groot, CJ; Hommes, FA; Troelstra, JA | 1 |
| Carpenter, DG; Carter, CH | 1 |
| Tada, K; Takada, G | 1 |
| Gerald, PS; Kang, ES | 1 |
| Hsia, YE; Lilljeqvist, AC; Rosenberg, LE | 1 |
| Levy, H; Morrow, G; Mudd, SH | 1 |
| Hinds, KR; Mudd, SH; Uhlendorf, BW | 1 |
| Helger, R; Kraffczyk, F; Lang, H | 1 |
| Lyon, IC; Procopis, PG; Turner, B | 1 |
| Lowman, JT; Ulstrom, RA; Walker, WA | 1 |
| Hansen, S; Hardwick, DF; Perry, TL; Pohlmann, L; Warrington, PD | 1 |
| Gusev, EI | 1 |
| Gjessing, LR | 1 |
| Hansen, S; Hardwick, DF; Israels, S; Love, DL; Perry, TL | 1 |
| Anders, PW; Curtius, HC; Martenet, AC | 1 |
| Crawhall, JC; Lietman, PS; Schneider, JA; Seegmiller, JE | 1 |
| Scriver, CR; Whelan, DT | 1 |
| Mudd, SH; Uhlendorf, BW | 1 |
| Carey, MC; Fennelly, JJ; FitzGerald, O | 1 |
| Antener, I; Carton, D; Hooft, C; Snoeck, J; Timmermans, J; van den Hende, C | 1 |
| Nakagawa, H; Sato, T; Tada, K; Yokoyama, Y; Yoshida, T | 1 |
| Ketting, D; Maas, JW; van Sprang, FJ; Wadman, SK | 1 |
| Adam, E; Dautrevaux, M; Farriaux, JP; Fontaine, G; Gosselin, B | 1 |
| Daniel, RG; Waisman, HA | 1 |
| Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH | 1 |
| Ersser, RS; Harries, JT; Lloyd, JK; Seakins, JW | 1 |
| Clow, C; Davies, E; Scriver, CR | 1 |
| Komrower, GM; Robins, AJ | 1 |
| Gershon, ES; Shader, RI | 1 |
| Carr, JR; Crawford, JD; Karolkewicz, V; Levy, HL; Lum, A; MacCready, RA; Madigan, PM; Richards, AA; Shih, VE | 1 |
| Araki, S; Cowen, D; Rowland, LP; Thompson, HL; White, HH | 2 |
| Schimke, RN; Spiro, HR; Welch, JP | 1 |
| Antener, I; Hooft, C; Oyaert, W; Snoeck, J; Timmermans, J; Van den Hende, C | 2 |
| Berlow, S | 1 |
| Dolman, CL; Dunn, HG; Perry, TL | 1 |
| Cusworth, DC; Komrower, GM; Lambert, AM; Westall, RG | 1 |
| Brenton, DP; Cusworth, DC | 1 |
| Gaitonde, MK; Gaull, G | 1 |
33 review(s) available for methionine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cystathionine beta-Synthase; Cysteine; Glycine N-Methyltransferase; Homocysteine; Humans; Hydrogen Sulfide; Liver; Methionine; S-Adenosylmethionine; Serine; Sulfides; Sulfur; Thiosulfates | 2020 |
Inherited disorders in the conversion of methionine to homocysteine.
Topics: Adenosylhomocysteinase; Amino Acid Metabolism, Inborn Errors; Glycine N-Methyltransferase; Health Planning Guidelines; Homocysteine; Humans; Methionine; Methionine Adenosyltransferase; Models, Biological | 2009 |
The logic of the hepatic methionine metabolic cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Glycine N-Methyltransferase; Humans; Liver; Metabolic Networks and Pathways; Methionine; Methionine Adenosyltransferase; Methylation; Methyltransferases; Models, Biological; S-Adenosylmethionine | 2010 |
Hypermethioninemias of genetic and non-genetic origin: A review.
Topics: Adenosylhomocysteinase; Amino Acid Metabolism, Inborn Errors; Calcium-Binding Proteins; cis-trans-Isomerases; Cystathionine beta-Synthase; Diagnosis, Differential; Female; Glycine N-Methyltransferase; Humans; Infant, Newborn; Liver Diseases; Methionine; Methionine Adenosyltransferase; Mitochondrial Diseases; Neonatal Screening; Organic Anion Transporters; Tyrosinemias | 2011 |
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Methylmalonic Acid; Models, Biological; Models, Genetic; Mutation; Neonatal Screening; Oxidoreductases; Pregnancy; Prenatal Diagnosis; Vitamin B 12; Vitamin B 12 Deficiency | 2012 |
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Brain; Demyelinating Diseases; Diet; Genetic Testing; Glycine N-Methyltransferase; Humans; Infant, Newborn; Isoenzymes; Methionine; Methionine Adenosyltransferase; Mutation; S-Adenosylmethionine; Severity of Illness Index | 2012 |
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cystinuria; Histidine; Homocysteine; Humans; Hydroxyproline; Kidney; Methionine; Proline; Renal Aminoacidurias | 1965 |
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Base Pairing; Brain Diseases, Metabolic, Inborn; Cysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Mutation; Sequence Deletion; Sulfite Oxidase | 2005 |
The use of betaine in the treatment of elevated homocysteine.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation | 2006 |
Inborn errors of sulfur-containing amino acid metabolism.
Topics: Adenosylhomocysteinase; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Betaine-Homocysteine S-Methyltransferase; Cystathionine gamma-Lyase; Glycine N-Methyltransferase; Humans; Kidney; Liver; Methionine; Methionine Adenosyltransferase; Sulfur | 2006 |
[Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Diagnosis, Differential; Folic Acid; Folic Acid Deficiency; Food, Fortified; Homocysteine; Humans; Infant; Infant, Newborn; Methionine; Methylmalonic Acid; Vitamin B 12 Deficiency | 2008 |
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 |
Biochemistry of sulfur-containing amino acids.
Topics: Adenosine; Amino Acid Metabolism, Inborn Errors; Animals; Cysteine; Deoxyadenosines; Homocysteine; Humans; Methionine; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; S-Adenosylmethionine; Structure-Activity Relationship; Sulfur; Sulfurtransferases; Thionucleosides; Thiosulfate Sulfurtransferase | 1983 |
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Blood Coagulation Factors; Blood Platelets; Child; Cystathionine beta-Synthase; Endothelium, Vascular; Fibrinolytic Agents; Folic Acid Deficiency; Homocysteine; Humans; Incidence; Male; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Penicillamine; Risk Factors; Thrombosis; Vascular Diseases; Vitamin B 12; Vitamin B 6 Deficiency; Vitamins | 1993 |
Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine beta-Synthase; Genetic Predisposition to Disease; Genotype; Homocysteine; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Phenotype; Prevalence; Risk Factors; Vascular Diseases | 1996 |
Disorders of homocysteine metabolism.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Amino Acid Metabolism, Inborn Errors; Animals; Cystathionine beta-Synthase; Disease Models, Animal; Homocysteine; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Neural Tube Defects; Oxidoreductases | 1997 |
[Moderate hyperhomocysteinemia: physiopathology of the endothelial lesion and its clinical implications].
Topics: Amino Acid Metabolism, Inborn Errors; Avitaminosis; Cardiovascular Diseases; Cerebrovascular Disorders; Endothelium, Vascular; Homocysteine; Homocystinuria; Homozygote; Humans; Methionine; Myocardial Ischemia; Peripheral Vascular Diseases; Risk Factors; Thrombophlebitis; Vitamins | 1998 |
[Disorders of transsulfuration; disorders of sulfur-aminoacids metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine beta-Synthase; Cystathionine gamma-Lyase; Diagnosis, Differential; Humans; Methionine; Methionine Adenosyltransferase; Mutation; Prognosis; Purines; Sulfurtransferases; Xanthine Dehydrogenase; Xanthine Oxidase | 1998 |
[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
Topics: Amino Acid Metabolism, Inborn Errors; DNA; Gene Expression Regulation, Enzymologic; Genetic Therapy; Humans; Infant, Newborn; Mass Screening; Methionine; Methionine Adenosyltransferase; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length | 1998 |
[Methionine malabsorption syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems; Animals; Biomarkers; Carrier Proteins; Diagnosis, Differential; Humans; Hydroxybutyrates; Malabsorption Syndromes; Methionine; Mutation; Prognosis | 1998 |
Amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; Corynebacterium; Glutamates; Humans; Keto Acids; Lysine; Methionine; Methylmalonic Acid; Neurospora crassa; Phenylketonurias; Plants; Protein Biosynthesis; Protein O-Methyltransferase; Taurine; Vitamin B Complex | 1976 |
Homocystine, atherosclerosis and thrombosis: implications for oral contraceptive users.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteriosclerosis; Child; Contraceptives, Oral; Contraceptives, Oral, Hormonal; Embolism; Female; Glucose; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Hyperlipidemias; Methionine; Thrombosis | 1975 |
The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Homocysteine; Humans; Methionine; Methylation; S-Adenosylmethionine | 1992 |
[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 |
[Amino acid transfer systems and their importance in pathology. II. Specific abnormalities in renal and intestinal amino acid transfer].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cystine; Female; Glycine; Hartnup Disease; Humans; Infant; Lysine; Malabsorption Syndromes; Male; Methionine; Renal Tubular Transport, Inborn Errors; Tryptophan | 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 |
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 |
Methionine metabolism in man: development and deficiencies.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Fetus; Heterozygote; Homocystinuria; Homozygote; Humans; Liver; Lyases; Male; Methionine; Methyltransferases; Microscopy, Electron; Mitochondria, Liver; Oxidoreductases; Phenotype; Pregnancy; Pyridoxine; Sulfites; Tetrahydrofolates | 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 |
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cysteine; Cystinuria; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Rats | 1967 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine | 1968 |
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 |
[New etiologic approach to periodic ketoacidosis in children].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Butyrates; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dehydration; Diabetic Ketoacidosis; Female; Glycogen Storage Disease; Hexoses; Humans; Hydrogen-Ion Concentration; Hypoglycemia; Infant; Infant, Newborn; Ketone Bodies; Lactation Disorders; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Methionine; Periodicity; Pregnancy; Propionates; Pyruvates; Vomiting | 1971 |
1 trial(s) available for methionine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arterial Occlusive Diseases; Biomarkers; Blood Pressure; Cholesterol; Endothelium, Vascular; Fasting; Female; Folic Acid; Follow-Up Studies; Homocysteine; Humans; Male; Methionine; Middle Aged; Pyridoxine; Smoking; Thrombomodulin; Time Factors; Tissue Plasminogen Activator; von Willebrand Factor | 1995 |
213 other study(ies) available for methionine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Amino Acid Metabolism, Inborn Errors; Early Diagnosis; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Vitamin B 12 | 2022 |
Amyloids Formed by Nonaromatic Amino Acid Methionine and Its Cross with Phenylalanine Significantly Affects Phospholipid Vesicle Membrane: An Insight into Hypermethioninemia Disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amyloid; Glycine N-Methyltransferase; Methionine; Phenylalanine; Phospholipids | 2022 |
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.
Topics: Amino Acid Metabolism, Inborn Errors; Exome Sequencing; Genomics; Glycine N-Methyltransferase; Humans; Infant; Infant, Newborn; Methionine; Mutation; Tandem Mass Spectrometry | 2022 |
Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine N-Methyltransferase; Humans; Infant, Newborn; Methionine; Methionine Adenosyltransferase; Neonatal Screening | 2022 |
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Gestational Age; Glycine N-Methyltransferase; Humans; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Mutation; Neonatal Screening; Retrospective Studies | 2020 |
Hypermethioninemia induces memory deficits and morphological changes in hippocampus of young rats: implications on pathogenesis.
Topics: Acetylcholinesterase; Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Cerebral Cortex; Female; Glutathione Peroxidase; Glycine N-Methyltransferase; Hippocampus; Male; Memory Disorders; Memory, Short-Term; Methionine; Rats; Rats, Wistar; Reactive Oxygen Species; Spatial Memory; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances | 2020 |
Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon-Sulfur Lyases; Carboxy-Lyases; Enzyme Assays; Escherichia coli; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Methionine; Plasmids; Pseudomonas putida; Spectrophotometry; Streptomyces | 2020 |
Characterization of macrophage phenotype, redox, and purinergic response upon chronic treatment with methionine and methionine sulfoxide in mice.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Cell Polarity; Glutathione Peroxidase; Glycine N-Methyltransferase; Macrophages; Male; Methionine; Mice; Oxidation-Reduction; Oxidative Stress; Phenotype; Superoxide Dismutase | 2020 |
[Remethylation disorders: about two cases].
Topics: Alcoholism; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Metabolic Networks and Pathways; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle Spasticity; Psychotic Disorders; Vitamin B 12 | 2020 |
Methionine Administration in Pregnant Rats Causes Memory Deficit in the Offspring and Alters Ultrastructure in Brain Tissue.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Exploratory Behavior; Female; Glycine N-Methyltransferase; Memory; Memory Disorders; Methionine; Neurons; Pregnancy; Prenatal Exposure Delayed Effects; Rats, Wistar | 2018 |
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Male; Methionine; Methylmalonic Acid; Propionates; Protein Serine-Threonine Kinases; Syndrome | 2018 |
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; Female; Glycine; Humans; Infant; Lactic Acid; Male; Methionine; Mitochondrial Diseases; Pakistan; Tertiary Care Centers; Urinalysis; Valerates; Vitamin B 12 Deficiency | 2018 |
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Demyelinating Diseases; Glycine N-Methyltransferase; Humans; Infant; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Neonatal Screening; Nervous System Diseases; Pontine Tegmentum; S-Adenosylmethionine | 2019 |
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders | 2019 |
Excessive Methionine Supplementation Exacerbates the Development of Abdominal Aortic Aneurysm in Rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Aorta, Abdominal; Aortic Aneurysm, Abdominal; Dilatation, Pathologic; Disease Models, Animal; Disease Progression; Glycine N-Methyltransferase; Interleukin-6; Male; Matrix Metalloproteinase 2; Methionine; Osteopontin; Pancreatic Elastase; Rats, Sprague-Dawley; Risk Factors; Time Factors | 2019 |
Methionine and methionine sulfoxide alter parameters of oxidative stress in the liver of young rats: in vitro and in vivo studies.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Fluoresceins; Glycine N-Methyltransferase; Liver; Male; Methionine; Oxidative Stress; Rats; Rats, Wistar; Reactive Oxygen Species; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances | 2013 |
Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Glycine N-Methyltransferase; Heterozygote; Homocysteine; Humans; Male; Methionine; Methionine Adenosyltransferase; Mutation; Nervous System Diseases | 2013 |
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Follow-Up Studies; Glycine N-Methyltransferase; Humans; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Mutation; Neonatal Screening | 2013 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Carrier Proteins; Diagnosis, Differential; Drug Resistance; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Hypertension, Malignant; Immunologic Factors; Kidney; Kidney Function Tests; Leucovorin; Lipotropic Agents; Male; Methionine; Methylmalonic Acid; Mutation; Oxidoreductases; Recurrence; Renal Dialysis; Treatment Outcome; Vitamin B 12 Deficiency; Vitamin B Complex | 2014 |
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Brain; Female; Glycine N-Methyltransferase; Humans; Infant, Newborn; Japan; Male; Methionine; Methionine Adenosyltransferase; Mutation; Neonatal Screening; Nervous System Diseases; Phenotype | 2013 |
Development of an animal model for gestational hypermethioninemia in rat and its effect on brain Na⁺,K⁺-ATPase/Mg²⁺-ATPase activity and oxidative status of the offspring.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Brain Chemistry; Ca(2+) Mg(2+)-ATPase; Catalase; Disease Models, Animal; Female; Glycine N-Methyltransferase; Homocysteine; Maternal-Fetal Exchange; Methionine; Nerve Tissue Proteins; Oxidation-Reduction; Oxidative Stress; Pregnancy; Pregnancy Complications; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Sulfhydryl Compounds; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances | 2014 |
Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performance.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cognition; Cyclin E; Fibroblast Growth Factor 2; Gene Expression Regulation; Glycine N-Methyltransferase; Hippocampus; MAP Kinase Signaling System; Maze Learning; Memory Disorders; Methionine; Methionine Adenosyltransferase; Methylation; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins; Neurogenesis; Neuronal Plasticity; Rotarod Performance Test; S-Adenosylmethionine | 2014 |
Methionine Exposure Alters Glutamate Uptake and Adenine Nucleotide Hydrolysis in the Zebrafish Brain.
Topics: Adenosine; Adenosine Triphosphatases; Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Glutamic Acid; Glycine N-Methyltransferase; Hydrolysis; Methionine; Zebrafish | 2016 |
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Neonatal Screening; Psychotic Disorders; Treatment Outcome | 2016 |
The remarkable S. Harvey Mudd - A reminiscence.
Topics: Amino Acid Metabolism, Inborn Errors; Biomedical Research; Glycine N-Methyltransferase; History, 20th Century; History, 21st Century; Homocystinuria; Humans; Male; Methionine; Vitamin B 12 Deficiency | 2016 |
Chronic administration of methionine and/or methionine sulfoxide alters oxidative stress parameters and ALA-D activity in liver and kidney of young rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Catalase; Cholesterol; Enzyme Activation; Female; Glucose; Glutathione Peroxidase; Glycine N-Methyltransferase; Injections, Subcutaneous; Kidney; Lipid Peroxidation; Liver; Male; Methionine; Oxidative Stress; Porphobilinogen Synthase; Rats; Rats, Wistar; Reactive Oxygen Species; Sulfhydryl Compounds; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Triglycerides; Urea | 2017 |
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 |
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 |
Acute and chronic hypermethioninemia alter Na+ K+-ATPase activity in rat hippocampus: prevention by antioxidants.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Ascorbic Acid; Chronic Disease; Hippocampus; Humans; Methionine; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Vitamin E | 2011 |
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Topics: Adenosine Kinase; Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Developmental Disabilities; Family Health; Female; Fibroblasts; Homocysteine; Humans; Liver Diseases; Male; Methionine; S-Adenosylhomocysteine; S-Adenosylmethionine | 2011 |
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Methionine; Methionine Adenosyltransferase; Mutation, Missense; S-Adenosylmethionine | 2012 |
Population screening.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Vitamin B 6 | 2003 |
[Mechanism of histamine resistance due to amino acid deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Histamine; Histamine Agents; Methionine; Tryptophan | 1954 |
Chemical pathology of acute amino acid deficiencies. I. Morphologic changes in immature rats fed threonine-, methionine-, or histidine-devoid diets.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Diet; Histidine; Methionine; Rats; Threonine | 1958 |
FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Blood; Child; Diet; Diet Therapy; Glycine; Humans; Infections; Isoleucine; Leucine; Leukocyte Count; Methionine; Renal Aminoacidurias; Threonine; Toxicology; Valine | 1964 |
HOMOCYSTINURIA, AN ERROR IN THE METABOLISM OF METHIONINE.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Biochemistry; Child; Homocystinuria; Humans; Infant; Intellectual Disability; Kidney; Metabolic Diseases; Methionine; Pathology; Proteins; Renal Aminoacidurias; Urologic Diseases | 1964 |
METHIONINE MALABSORPTION IN A MENTALLY DEFECTIVE CHILD.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Congenital Abnormalities; Diarrhea; Diarrhea, Infantile; Feces; Hair; Humans; Hydroxybutyrates; Intellectual Disability; Intestines; Methionine; Proteins; Respiration Disorders; Respiratory Tract Diseases; Seizures; Urine | 1964 |
HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine beta-Synthase; Deficiency Diseases; Genetics, Medical; Homocystinuria; Humans; Hydro-Lyases; Kidney; Liver; Liver Diseases; Methionine; Pathology; Renal Aminoacidurias; Transferases | 1964 |
MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY.
Topics: Amino Acid Metabolism, Inborn Errors; Anthropometry; Blood Proteins; Cerebrospinal Fluid Proteins; Diet; Diet Therapy; Erythrocytes; Exchange Transfusion, Whole Blood; Growth; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Valine | 1964 |
HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Chemistry Techniques, Analytical; Cystathionine gamma-Lyase; Geriatrics; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Hyperhomocysteinemia; Methionine; Oxidoreductases; Transferases; Urine | 1965 |
HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Bone Diseases; Brain; Brain Diseases; Cardiovascular Diseases; Cerebrospinal Fluid; Child; Chromatography; Congenital Abnormalities; Eye Diseases; Facial Expression; Fatty Liver; Foot Diseases; Genetics, Medical; Homocystinuria; Humans; Hydro-Lyases; Infant; Intellectual Disability; Lens, Crystalline; Liver; Metabolism; Methionine; Urine | 1965 |
HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Genetics, Medical; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Metabolism; Methionine; Neomycin; Urine | 1965 |
HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.
Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Diagnosis; Genetics, Medical; Glycine N-Methyltransferase; Humans; Hyperplasia; Infant; Infant, Newborn; Infant, Newborn, Diseases; Islets of Langerhans; Kidney Diseases; Kidney Tubules; Liver Cirrhosis; Methionine; Methionine Adenosyltransferase; Pancreas; Renal Insufficiency | 1965 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylmalonic Acid; Vitamin B 12 | 2005 |
Spectrum of hypermethioninemia in neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Homocystinuria; Humans; Infant, Newborn; Methionine; Methionine Adenosyltransferase; Neonatal Screening; Prevalence; Treatment Outcome | 2005 |
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Macula Lutea; Methionine; Methylmalonic Acid; Retina; Retinal Degeneration; Vision, Ocular; Visual Acuity; Vitamin B 12 Deficiency | 2005 |
General anesthesia for patient with type III homocystinuria (tetrahydrofolate reductase deficiency).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anesthesia, General; Female; Homocystinuria; Humans; Methionine; Perioperative Care; Preanesthetic Medication; Submandibular Gland Neoplasms; Tetrahydrofolate Dehydrogenase | 2005 |
Plasma amino acids and neopterin in healthy persons with Down's syndrome.
Topics: Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomarkers; Comorbidity; Dopamine; Down Syndrome; Female; Homocysteine; Homovanillic Acid; Humans; Immune System Diseases; Immunity, Cellular; Male; Methionine; Middle Aged; Neopterin; Taurine; Up-Regulation | 2007 |
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Birth Weight; Cohort Studies; Gestational Age; Homocystinuria; Humans; Incidence; Infant, Newborn; Intensive Care Units, Neonatal; Intensive Care, Neonatal; Methionine; Neonatal Screening; Netherlands | 2007 |
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Child Development; Child, Preschool; Early Diagnosis; Female; Genetic Predisposition to Disease; Homocysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Mutation; Neonatal Screening; Pedigree; Phenotype; Predictive Value of Tests; Prognosis; Spain; Tandem Mass Spectrometry; Up-Regulation | 2008 |
[Homocystinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Diet Therapy; Homocystine; Homocystinuria; Humans; Methionine | 1966 |
Some theoretical considerations in the treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Diet Therapy; Histidine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; L-Serine Dehydratase; Liver; Methionine; Rats | 1967 |
Cystathioninuria: management.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Child; Child, Preschool; Cystine; Female; Humans; In Vitro Techniques; Intellectual Disability; Liver; Male; Methionine; Middle Aged; Pregnancy; Pyridoxal Phosphate; Pyridoxine; Thrombocytopenia | 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 |
Homocystinuria. Trial treatment of a 5-year old severely retarded child with a natural diet low in methionine.
Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Cystine; Diet Therapy; Female; Growth; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Neurologic Manifestations | 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 |
Renal clearance of cystathionine in homozygous and heterozygous cystathioninuria, cystinuria, and the normal state.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Cystinuria; Glycine; Humans; Kidney; Lysine; Male; Methionine; Renal Tubular Transport, Inborn Errors | 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 |
Sulfur-containing amino acids in the plasma and urine of homocystinurics.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Iodoacetates; Methionine; Sulfoxides; Sulfur; Ultraviolet Rays | 1967 |
[Ocular changes in homocystinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diagnosis, Differential; Eye Manifestations; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Methionine | 1967 |
A patient with tyrosinemia and hypermethioninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Humans; Infant; Kidney; Liver; Male; Methionine; Pancreas; Tyrosine | 1967 |
Treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pedigree | 1967 |
Hypervalinemia. A defect in valine transamination.
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine | 1967 |
Feeding chicks high levels of L-phenylalanine and L-methionine supplemented diets in the study of experimental aspects of phenylketonuria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Diet; Growth; Homocystinuria; Humans; Methionine; Norepinephrine; Phenylalanine; Phenylketonurias; Poultry; Serotonin | 1967 |
[Homocystinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Heterozygote; Homocystinuria; Humans; Intellectual Disability; Male; Methionine | 1967 |
Homocystinuria: amino acid pattern of the liver.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Cystine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Male; Methionine | 1967 |
Latent cystathioninuria.
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Female; Humans; Intellectual Disability; Male; Methionine; Middle Aged; Pedigree | 1967 |
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 |
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Anemia, Megaloblastic; Cobamides; Fibroblasts; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Male; Methionine; Propionates; Tetrahydrofolates; Vitamin B 12 | 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 |
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth Disorders; Homocystinuria; Humans; Hydroxocobalamin; Male; Malonates; Methionine; Methylmalonic Acid; Retinal Degeneration; Vitamin B 12 | 1984 |
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Humans; Hydroxybutyrates; Infant; Isomerism; Lactates; Lactic Acid; Methionine; Thymine; Valine | 1981 |
A strategy for glycine encephalopathy therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Aminomethyltransferase; Animals; Brain Diseases, Metabolic; Carrier Proteins; Chemical Phenomena; Chemistry; Glycine; Glycine Dehydrogenase (Decarboxylating); Humans; Hydroxymethyl and Formyl Transferases; Infant; Infant, Newborn; Methionine; Mice; Serine; Tetrahydrofolates; Transferases | 1982 |
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 |
A new type of hypermethioninemia in neonates.
Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Female; Humans; Infant, Newborn; Liver; Male; Mass Screening; Methionine; Methionine Adenosyltransferase | 1982 |
Methioninemia and myopathy: a new disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diagnosis, Differential; Female; Humans; Intellectual Disability; Liver; Methionine; Methionine Adenosyltransferase; Microscopy, Electron; Muscles; Muscular Diseases; Syndrome | 1981 |
[Detections tests for newborn infants].
Topics: Amino Acid Metabolism, Inborn Errors; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Methionine; Phenylalanine | 1981 |
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Female; Humans; Methionine; Methionine Adenosyltransferase; Molecular Sequence Data; Mutation; Polymorphism, Single-Stranded Conformational; Transcription, Genetic | 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 |
Lipid peroxidation and susceptibility of low-density lipoprotein to in vitro oxidation in hyperhomocysteinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cholesterol; Cholesterol, LDL; Cohort Studies; Female; Homocysteine; Homozygote; Humans; Lipid Peroxidation; Lipoproteins, LDL; Male; Methionine; Oxidation-Reduction; Reference Values; Thiobarbituric Acid Reactive Substances; Vitamin E | 1995 |
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Glycine; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Male; Methionine; Molecular Epidemiology; Molecular Sequence Data; Nucleic Acid Conformation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tryptophan; X Chromosome | 1994 |
Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss.
Topics: Abortion, Habitual; Adult; Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Female; Homocysteine; Humans; Methionine; Middle Aged; Pregnancy; Pregnancy Trimester, First; Prevalence; Risk Factors | 1993 |
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Chromosomes, Human, Pair 10; Demyelinating Diseases; Female; Genes; Humans; Infant; Male; Methionine; Methionine Adenosyltransferase; Point Mutation; Polymorphism, Single-Stranded Conformational | 1996 |
Prevalence of familial mild hyperhomocysteinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cardiovascular Diseases; Fasting; Female; Homocysteine; Humans; Male; Methionine; Middle Aged; Pedigree | 1996 |
Variability of the methionine loading test: no effect of a low protein diet.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Homocysteine; Humans; Male; Methionine; Middle Aged | 1996 |
Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Glycine Hydroxymethyltransferase; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors; Proteins; Serine; Skin | 1997 |
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.
Topics: Amino Acid Metabolism, Inborn Errors; Diarrhea; Face; Female; Hair; Hemochromatosis; Humans; Infant; Infant, Newborn; Liver; Lung; Male; Methionine; Pregnancy; Syndrome | 1997 |
Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Female; Genes, Dominant; Humans; Infant; Male; Methionine; Methionine Adenosyltransferase; Mutation | 1997 |
A new method for evaluation and dietary therapy of congenital: deficiencies of amino acid metabolic enzymes. Linear system analysis and optimization of feedback inputs for the metabolic pathways of lysine, methionine and isoleucine.
Topics: Amino Acid Metabolism, Inborn Errors; Enzymes; Evaluation Studies as Topic; Feedback; Humans; Isoleucine; Lysine; Methionine; Methods; Models, Theoretical | 1998 |
One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Brain Diseases; Choline; Coma; Female; Glycine; Homocysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Methylation; Phosphatidylcholines; S-Adenosylmethionine; Seizures; Serine; Tetrahydrofolates | 1998 |
[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 |
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Glutarates; Humans; Leigh Disease; Male; Methionine; Skull; Tomography, X-Ray Computed | 1999 |
Abnormal amino acid metabolism and brain protein synthesis during neural development.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Humans; Leucine; Lipid Metabolism; Methionine; Myelin Sheath; Nerve Tissue Proteins; Nervous System; Neurotransmitter Agents; Phenethylamines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polyribosomes; Pyruvate Kinase; RNA, Transfer, Amino Acyl; Serotonin | 1978 |
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 |
Hypermethioninemia in an infant.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet; Dietary Proteins; Hepatitis; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Methionine | 1978 |
[Interference of DL-methionine, used as a supplement in some soya milks, in urinary screenings for aminoacidopathies].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Food, Fortified; Glycine max; Humans; Infant; Infant Food; Infant, Newborn; Methionine; Milk; Milk, Human; Urine | 1977 |
[Oast house syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Methionine; Phenylketonurias | 1977 |
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 |
Congenital tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Female; Humans; Infant; Kidney; Liver; Methionine; Pancreas; Tyrosine | 1978 |
Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Enzyme Induction; Formiminoglutamic Acid; Glutarates; Humans; Liver; Male; Methionine; Rats; Tetrahydrofolates; Transferases; Vitamin B 12 Deficiency | 1978 |
The diagnosis and management of propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Isoleucine; Male; Methionine; Propionates; Threonine; Valine | 1978 |
Inborn errors of amino acid metabolism and hereditary ataxia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Ataxia; Female; Fetus; Heterozygote; Homocystinuria; Homozygote; Humans; Liver; Maternal-Fetal Exchange; Methionine; Phenylketonurias; Pregnancy | 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 |
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Citrulline; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Lysine; Male; Methionine; Phenylalanine; Threonine; Tryptophan; Valine | 1977 |
[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Anorexia; Follow-Up Studies; Gastrointestinal Diseases; Growth Disorders; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Methionine; Methionine Adenosyltransferase; Odorants; Sweat; Transferases; Urine | 1977 |
[Determination of urinary alpha-keto-gamma-methylthiobutyric acid in hypermethionemia by use of gas chromatography and flame photometry (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Butyrates; Child; Chromatography, Gas; Homocystinuria; Humans; Methionine; Methods; Photometry | 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 |
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; Disulfides; Glycine; Hartnup Disease; Histidine; Histidine Ammonia-Lyase; Homocystinuria; Humans; Methionine; Proline; Sulfites | 1976 |
Abnormal methionine adenosyltransferase in hypermethioninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child, Preschool; Female; Humans; Kinetics; Liver; Methionine; Methionine Adenosyltransferase; Rats; Transferases | 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 |
[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 |
[Inherited metabolic disorders of the transsulfuration pathway].
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine beta-Synthase; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Vitamin B 12 | 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 |
Persistent hypermethioninaemia with dominant inheritance.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Isoenzymes; Liver; Male; Methionine; Methionine Adenosyltransferase; Mutation; Pedigree | 1992 |
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Blotting, Northern; Cells, Cultured; Child; Dipeptidases; Erythrocytes; Female; Fibroblasts; Humans; Kinetics; Lymphocytes; Macromolecular Substances; Male; Methionine; Phenotype; RNA; RNA, Messenger; Skin; Substrate Specificity; Transcription, Genetic | 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 |
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values | 1990 |
Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heme; Heptanoates; Heptanoic Acids; Humans; Infant; Methionine; Phenylalanine; Tyrosine | 1990 |
Familial hypermethioninemia partially responsive to dietary restriction.
Topics: Adenosylhomocysteinase; Amino Acid Metabolism, Inborn Errors; Failure to Thrive; Female; Humans; Hydrolases; Infant, Newborn; Intellectual Disability; Jaundice, Neonatal; Liver; Methionine | 1990 |
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia.
Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Humans; Isoleucine; Kinetics; Leucine; Malonates; Methionine; Methylmalonic Acid; Phenylalanine; Threonine; Time Factors; Valine | 1989 |
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 |
Mutant isovaleryl-CoA dehydrogenase in isovaleric acidemia cells: assay of activity and molecular characterization.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Female; Fibroblasts; Genetic Variation; Humans; Immunoglobulin G; Isovaleryl-CoA Dehydrogenase; Liver; Male; Methionine; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Radioisotope Dilution Technique; Reference Values; Skin; Sulfur Radioisotopes; Tritium | 1988 |
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Breath Tests; Humans; Liver; Male; Methionine; Methionine Adenosyltransferase; Transferases | 1987 |
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Genetic Carrier Screening; Genetic Variation; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Methionine; Molecular Weight; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Valerates | 1985 |
[A case of homocystinuria missed by the newborn screening].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnostic Errors; Homocystinuria; Humans; Infant; Male; Methionine | 1985 |
Pyridoxine treatment in homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine | 1967 |
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 |
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cystine; Diet Therapy; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pyridoxine; Thrombosis | 1968 |
Fructosaemia-"acute-tyrosinosis".
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Fructose; Humans; Infant; Male; Methionine; Tyrosine | 1969 |
[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 |
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 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis".
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Cystathionine; Dietary Carbohydrates; Female; Fructose-1,6-Diphosphatase Deficiency; Fructose-Bisphosphatase; Humans; Infant; Lactates; Methionine; Phenylalanine; Sucrose; Tyrosine | 1974 |
Biochemical observations on so-called hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy; Diet Therapy; Female; Hepatomegaly; Humans; Hydro-Lyases; Infant; Infant, Newborn; Liver; Male; Methionine; Mixed Function Oxygenases; Phenotype; Phenylalanine; Phosphates; Splenomegaly; Transferases; Tyrosine; Tyrosine Transaminase | 1970 |
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine | 1974 |
Thin-layer chromatographic screening of amino acids in plasma and urine of newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Blood Proteins; Chromatography, Thin Layer; Female; Glycine; Homocysteine; Humans; Indicators and Reagents; Infant, Newborn; Infant, Premature; Lysine; Methionine; Phenylalanine; Pregnancy; Proteinuria; Tyrosine; Ultrafiltration | 1974 |
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydro-Lyases; Infant, Newborn; Liver; Lyases; Mass Screening; Methionine; Methyltransferases; Mutation; Transferases | 1974 |
Loading tests in normal, heterozygos and homozygos individuals with histidine and methionine respectively. 107 tests (author's transl).
Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Heterozygote; Histidine; Homozygote; Humans; Hypoglycemia; Infant; Methionine; Methods; Time Factors | 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 |
A patient with nonketotic hyperglycinemia: biochemical findings and therapeutic approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Benzoates; Biopsy; Carbon Radioisotopes; Child, Preschool; Choline; Diet Therapy; Electroencephalography; Female; Folic Acid; Glycine; Humans; Infant; Infant, Newborn; Leucovorin; Liver; Methionine; Pyridoxine; Salicylates; Tetrahydrofolates | 1974 |
Primary cystathioninuria. Methionine load tests and response to pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Humans; Methionine; Pyridoxine | 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 |
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; DNA; Hematopoietic System; Homocysteine; Humans; Infant; Infant, Newborn; Isomerases; Leukocytes; Malonates; Methionine; Methyltransferases; Oxidation-Reduction; Propionates; Succinates; Vitamin B 12; Vitamin B 12 Deficiency | 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 |
Metabolism of sulfur-containing amino acids in a patient excreting -mercaptolactate-cysteine disulfide.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Cysteine; Cystine; Disulfides; Humans; Intellectual Disability; Lactates; Male; Methionine; Sulfur; Sulfur Isotopes; Taurine; Time Factors | 1973 |
[Cystathionuria and defective enzyme regulation].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Cystathionine; Cysteine; Electrophoresis, Paper; Female; Homocysteine; Homocystine; Homoserine; Humans; Hydro-Lyases; Hydrocortisone; Liver; Lyases; Methionine; Pyridoxine; Sulfur | 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 |
[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 |
Clinical finding and therapeutic problems in non-ketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Diet Therapy; Glycine; Humans; Hypotension; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Methionine; Seizures | 1973 |
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cystathionine; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Methionine; Mitochondria, Liver; Pyridoxine; Transferases; Transketolase | 1974 |
[Non-ketotic hyperglycinaemia. Clinical treatment, diet, and pathologico-anatomic changes (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Autopsy; Benzoates; Brain; Diet Therapy; Female; Glycine; Growth; Humans; Infant; Methionine | 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 |
Chemical pathology of amino acid diseases.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Homocystine; Humans; Hypoglycemia; Infant; Intellectual Disability; Leucine; Male; Maple Syrup Urine Disease; Methionine; Pyridoxine; Valine | 1968 |
[Methionine malabsorption].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Kidney Tubules; Male; Methionine | 1972 |
Transient neonatal hyperglycaemia, hyperlipidaemia, and hypermethioninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Blood Glucose; Glucose Tolerance Test; Glycosuria; Homocystinuria; Humans; Hyperglycemia; Hyperlipidemias; Infant; Infant, Newborn; Infant, Newborn, Diseases; Insulin; Insulin Secretion; Methionine | 1972 |
Detection of abnormal sulphur-containing amino acid excretion in a mass urine-screening programme.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Mass Screening; Methionine; Renal Aminoacidurias; Sulfur | 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 |
[Hereditary digestive enzyme defects].
Topics: Abetalipoproteinemia; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chylomicrons; Cystinuria; Female; Hartnup Disease; Humans; Hypercalcemia; Indican; Lipid Metabolism, Inborn Errors; Lipoproteins; Malabsorption Syndromes; Male; Methionine | 1972 |
[Case of trisomy of chromosome 18 associated with hypermethioninemia and biliary atresia].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bile Ducts; Chromosomes, Human, 16-18; Female; Humans; Infant, Newborn; Karyotyping; Liver; Methionine; Trisomy | 1972 |
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 |
Implications for clinical implementation of results of metabolic screening for amino acidopathies in the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Follow-Up Studies; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intellectual Disability; Mass Screening; Methionine; Proline | 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 |
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 |
[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 |
Aminoaciduria in a homocystinuric family.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Cystinuria; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Methionine; Sulfoxides | 1969 |
[Cystathioninuria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Chromosome Aberrations; Chromosome Disorders; Humans; Intellectual Disability; Methionine; Pyridoxine | 1969 |
Cystathioninemia: a benign genetic condition.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Butyrates; Child; Child, Preschool; Congenital Abnormalities; Cysteine; Female; Homozygote; Humans; Intellectual Disability; Keto Acids; Male; Methionine; Pyridoxine | 1970 |
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Culture Techniques; Diet Therapy; Female; Glycine; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Methionine; Serine | 1970 |
Inborn errors of metabolism associated with unusual odors.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Malabsorption Syndromes; Maple Syrup Urine Disease; Methionine; Odorants; Phenylalanine; Tryptophan; Valerates | 1970 |
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine | 1970 |
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 |
Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Coenzyme A; Diet Therapy; Dietary Proteins; Humans; Isoleucine; Ketones; Leucine; Leukocytes; Male; Malonates; Methionine; Nutritional Requirements; Propionates; Threonine; Valine; Vitamin B 12 | 1970 |
Deranged B 12 metabolism: effects on sulfur amino acid metabolism.
Topics: Adenosine Triphosphate; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Betaine; Brain Chemistry; Carbon Isotopes; Child, Preschool; Folic Acid; Homocysteine; Humans; Infant; Infant, Newborn; Isomerases; Kidney; Liver; Male; Malonates; Methionine; Methyltransferases; Transferases; Vitamin B 12 | 1970 |
Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Coenzyme A; Fibroblasts; Folic Acid; Glutamates; Homocysteine; Humans; Hydroxocobalamin; Isomerases; L-Serine Dehydratase; Male; Malonates; Methionine; Methyltransferases; Propionates; Skin; Vitamin B 12 | 1970 |
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 |
Cystathioninuria in a well baby population.
Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Chromatography, Thin Layer; Electrophoresis; Homocystine; Humans; Infant; Male; Methionine; Pyridoxine | 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 |
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 |
[Defects in the metabolism of methionine: methioninemia, homocystinurie, homoserinuria and cystinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Cystinuria; Homocystinuria; Humans; Intellectual Disability; Methionine | 1967 |
Cystathioninuria in two healthy siblings.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Female; Humans; Male; Methionine; Pyridoxine | 1968 |
[Determination of free amino acids in aqueous humor of homocystinuria patients and in control subjects].
Topics: Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aqueous Humor; Autoanalysis; Child; Homocystine; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Methionine; Middle Aged | 1968 |
Cystinosis. Plasma cystine and cysteine concentrations and the effect of D-penicillamine and dietary treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Cysteine; Cystine; Cystinosis; Cystinuria; Diet Therapy; Female; Humans; Infant; Male; Methionine; Nitrogen; Penicillamine; Pyruvates | 1968 |
Cystathioninuria and renal iminoglycinuria in a pedigree.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Counseling; Female; Glycine; Heterozygote; Humans; Hydroxyproline; Infant; Infant, Newborn; Jaundice; Jews; Male; Metabolic Clearance Rate; Methionine; Middle Aged; Pedigree; Phenotype; Proline; Pyridoxine; Renal Aminoacidurias; Tryptophan | 1968 |
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Culture Techniques; Fibroblasts; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Skin; Transferases | 1968 |
Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; FIGLU Test; Folic Acid; Homocystine; Homocystinuria; Humans; Intelligence; Male; Methionine; Nitrogen; Vitamin B 12 | 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 |
Further investigations in the methionine malabsorption syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Height; Body Weight; Child; Child, Preschool; Diarrhea; Feces; Female; Humans; Hydroxybutyrates; Intellectual Disability; Keto Acids; Malabsorption Syndromes; Methionine; Pedigree; Seizures | 1968 |
Hereditary tyrosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Consanguinity; Diet Therapy; Humans; Methionine; Phenylalanine; Phenylhydrazines; Pyruvate Oxidase; Tyrosine | 1968 |
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Preschool; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Cystine; Electroencephalography; Humans; Infant; Liver; Liver Function Tests; Male; Methionine; Pyridoxine; Riboflavin; Serine; Sulfates | 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 |
[Difficulties in interpreting a pathological aminoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver Diseases; Male; Methionine; Pancreatitis; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
The influence of excess methionine on the free amino acids of brain and liver of the weanling rat.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Diet; Injections; Liver; Methionine; Rats | 1969 |
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Brain; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Kidney; Liver; Male; Malonates; Metabolism, Inborn Errors; Methionine; Sulfides; Transferases; Vitamin B 12 | 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 |
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Arteries; Arteriosclerosis; Child; Diet; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Isomerases; Kidney; Ligases; Male; Malonates; Methionine; Vitamin B 12 | 1969 |
Screening for aminoacidurias in psychiatric inpatients.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Depression; Drug Synergism; Hartnup Disease; Homocystinuria; Hospitals, Psychiatric; Humans; Intellectual Disability; Mass Screening; Massachusetts; Mental Disorders; Methionine; Monoamine Oxidase Inhibitors; Neurotic Disorders; Personality Disorders; Phenylketonurias; Schizophrenia; Substance-Related Disorders; Tryptophan | 1969 |
Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets.
Topics: Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Blood Urea Nitrogen; Chromatography, Paper; Dietary Proteins; Humans; Infant; Infant, Newborn; Male; Mass Screening; Methionine; Spectrophotometry | 1969 |
Homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinuria; Homocysteine; Humans; Infant; Methionine | 1964 |
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Cysteine; Humans; Hydro-Lyases; Intellectual Disability; Liver; Methionine; Sulfates; Urine | 1965 |
Homocystinuria due to cystathionine synthase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Liver; Methionine | 1965 |
Schizophrenia in a patient with a defect in methionine metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Female; Homocysteine; Humans; Intellectual Disability; Methionine; Schizophrenia | 1965 |
Homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Child, Preschool; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Intracranial Embolism and Thrombosis; Lens, Crystalline; Male; Methionine; Seizures | 1965 |
Methionine malabsorption syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Diarrhea; Diet Therapy; Electroencephalography; Female; Humans; Infant; Intellectual Disability; Methionine; Seizures; Urine | 1965 |
[Methionine malabsorption].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Methionine | 1966 |
Studies in cystathioninemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystinuria; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Methionine; Pyridoxine | 1966 |
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine | 1966 |
Dietary treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Cystine; Diet Therapy; Female; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Methionine | 1966 |
Homocystinuria: metabolism of [35S]methionine.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cystine; Female; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Sulfonic Acids; Sulfur Isotopes | 1966 |
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Cystine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Lens, Crystalline; Male; Methionine; Middle Aged; Sulfur Isotopes | 1966 |