methionine has been researched along with CBS Deficiency in 302 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 167 (55.30) | 18.7374 |
| 1990's | 31 (10.26) | 18.2507 |
| 2000's | 47 (15.56) | 29.6817 |
| 2010's | 41 (13.58) | 24.3611 |
| 2020's | 16 (5.30) | 2.80 |
| Authors | Studies |
|---|---|
| Chen, YX; Chen, ZH; Jin, Y; Li, DX; Li, MQ; Li, XY; Liu, YP; Lyu, GY; Song, JQ; Sun, LY; Yang, YL; Zhang, Y; Zhang, YN; Zhu, ZJ | 1 |
| Aggarwal, P; Jain, N; Rahman, M; Sharma, M; Singla, S | 1 |
| Alberti, C; Benoist, JF; de Baulny, HO; Feillet, F; Garcia-Segarra, N; Guilmin-Crépon, S; Haignere, J; Imbard, A; Kaguelidou, F; Kuster, A; Magréault, S; Perronneau, I; Schiff, M; Schlemmer, D; Toumazi, A | 1 |
| Batycka, M; Ehmke Vel Emczyńska-Seliga, E; Jaworski, M; Kobylińska, M; Lange, E; Lech, N; Lipiński, P; Perkowska, B; Pokora, P; Rokicki, D; Samborowska, E | 1 |
| Aijaz, H; Du, F; Franklin, KA; Galanie, S; Guan, S; Hang, J; Huisman, G; Huitt-Roehl, C; Ismaili, MHA; Kruger, WD; Kruse, N; Lee, HO; McCluskie, K; Mitchell, V; Rajkovic, G; Silverman, AP; Skvorak, K; Teadt, L; Zhang, N | 1 |
| Aghalarov, M; Aktuglu-Zeybek, C; Cansever, MS; Kıykım, E; Uygur, E; Zubarioglu, T | 1 |
| Branchford, BR; Bublil, EM; Cox, A; di Paola, J; Kraus, JP; Majtan, T; Park, I | 1 |
| Ito, Y; Nishikubo, T; Nishimoto, E; Sakakibara, T | 1 |
| Hayashi, M; Inagaki, J; Inagaki, K; Okajima, T; Okawa, A; Tamura, T | 1 |
| Asamoah, A; De Biase, I; Gherasim, C; La'ulu, SL; Longo, N; Yuzyuk, T | 1 |
| Bublil, EM; Glavin, F; Majtan, T; Park, I | 1 |
| Kožich, V; Stabler, S | 1 |
| Bouvier, D; Brailova, M; Minet-Quinard, R; Regnier, A; Sapin, V; Szymanowski, M | 1 |
| Baumgartner, MR; Blom, HJ; Dionisi-Vici, C; Gleich, F; Huemer, M; Kölker, S; Kožich, V; Krijt, J; Morris, AAM; Pavlíková, M; Sokolová, J | 1 |
| Berry, SA; Kerkvliet, SP; Rheault, MN | 1 |
| Jiang, H; Maclean, KN; Mclagan, BM; Phinney, WN; Roede, JR; Stabler, SP | 1 |
| Al Harbi, FJ; AlAnzi, T; AlFaifii, J; Mohamed, S | 1 |
| Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R | 1 |
| Kruger, WD | 1 |
| Huse, K; Olecka, M; Platzer, M | 1 |
| Al-Dewik, N; Ben-Omran, T; Blom, HJ; Giacomo, VD; Gupta, S; Häberle, J; Ismail, HM; Krishnamoorthy, N; Kruger, WD; Mohamed, NA; Nasrallah, GK; Thöny, B; Zayed, 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 |
| Barski, R; Luvai, A; Narayanan, D; Sharma, R | 1 |
| Cushnie, DW; Garner, JL; Hermo, L; McGraw, S; Nagano, MC; Niles, KM; Trasler, JM; Yeh, JR | 1 |
| Gupta, S; Kruger, WD; Melnyk, SB | 1 |
| Adam, S; Almeida, MF; Carbasius Weber, E; Champion, H; Chan, H; Daly, A; Dixon, M; Dokoupil, K; Egli, D; Evans, S; Eyskens, F; Faria, A; Ferguson, C; Hallam, P; Heddrich-Ellerbrok, M; Jacobs, J; Jankowski, C; Lachmann, R; Lilje, R; Link, R; Lowry, S; Luyten, K; MacDonald, A; Maritz, C; Martins, E; Meyer, U; Müller, E; Murphy, E; Robertson, LV; Rocha, JC; Saruggia, I; Schick, P; Stafford, J; Stoelen, L; Terry, A; Thom, R; van den Hurk, T; van Rijn, M; van Teefelen-Heithoff, A; Webster, D; White, FJ; Wildgoose, J; Zweers, H | 1 |
| Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H | 1 |
| Dayal, S; French, SW; Geng, Y; Halsted, CH; Hodzic, E; Kharbanda, KK; LaSalle, JM; Medici, V; Peerson, J; Schroeder, DI; Shibata, NM; Tillman, B; Tsukamoto, H; Woods, R | 1 |
| Akahoshi, N; Hishiki, T; Ishii, I; Ishizaki, Y; Kamata, S; Kasahara, T; Kubota, M; Matsuura, T; Nagahata, Y; Suematsu, M; Yamada, H; Yamazaki, C; Yoshida, Y | 1 |
| Bahous, RH; Bedell, BJ; Caudill, MA; Deng, L; Grand'maison, M; Jadavji, NM; Malysheva, O; Rozen, R | 1 |
| Ikeda, R; Kawakami, S; Kuroda, N; Kuroki, M; Minami, Y; Nakashima, K; Sekitani, Y; Takamura, N; Wada, M | 1 |
| Abman, SH; Allen, RH; Jiang, H; Maclean, KN; Stabler, SP | 1 |
| Bearden, D; D'Aco, KE; Ficicioglu, C; Hyland, K; Rosenblatt, DS; Watkins, D | 1 |
| Bártl, J; Chrastina, P; Hodík, J; Kožich, V; Krijt, J; Pešková, K | 1 |
| Cheng, LM; Hsu, TR; Huang, YH; Lin, HY; Lo, MY; Lu, YH; Niu, DM; Wu, TJ | 1 |
| Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P | 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 |
| Baumgartner, MR; Burda, P; Chinnery, PF; Demirkol, M; Dionisi-Vici, C; Dobbelaere, D; Fowler, B; Froese, DS; Gökcay, G; Häberle, J; Huemer, M; Lossos, A; Mengel, E; Morris, AA; Mulder-Bleile, R; Niezen-Koning, KE; Parini, R; Plecko, B; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Suormala, T; Taddeucci, G; Trefz, F; Trejo-Gabriel-Galán, JM; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeev, BB; Zeman, J | 1 |
| Gupta, S; Kruger, WD; Wang, L | 1 |
| Gupta, S; Kruger, WD | 1 |
| Asano, T; Fukao, T; Kawamoto, M; Kawamoto, N; Kimura, T; Matsui, E; Sasai, H; Shimozawa, N; Yamamoto, T | 1 |
| Brodsky, JL; Coughlin, C; Ficicioglu, C; Freehauf, CL; Kaplan, P; Levine, MA; Lindstrom, K; Weber, DR | 1 |
| Levy, HL | 2 |
| Borowczyk, K; Chwatko, G; Głowacki, R; Jakubowski, H; Kubalczyk, P; Kubalska, J | 1 |
| Andria, G; Ben-Omran, TI; Blom, HJ; Chakrapani, AB; Chapman, KA; Crushell, E; de Almeida, IT; Henderson, MJ; Hochuli, M; Huemer, M; Janssen, MC; Kožich, V; Maillot, F; Mayne, PD; McNulty, J; Morris, AA; Morrison, TM; O'Sullivan, S; Ogier, H; Pavlíková, M; Santra, S; Terry, A; Yap, S | 1 |
| Asayama, S; Iida, S; Kaneko, S; Kunieda, T; Kusaka, H; Nakamura, M; Osaka, H | 1 |
| Berry, SA; Bishop, L; Charnas, L; Kanoff, R; Krenzel, C; Schimmenti, LA | 1 |
| Ito, T; Ohkubo, Y; Sugiyama, N; Sumi, S; Togari, H; Ueta, A; Yokoi, K | 1 |
| Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C | 1 |
| Abdoh, G; Al Khal, AL; Al Rifai, H; Ben-Omran, T; Bener, A; Fang-Hoffmann, J; Gan-Schreier, H; Hoffmann, GF; Kebbewar, M; Lindner, M; Shahbek, N; Wilrich, J; Zschocke, J | 1 |
| Abu Aqel, YW; Al-Aswad, MR; Goda, SK; Mohamed, AS; Rashedy, FA | 1 |
| Dietzen, DJ; Oladipo, O; Shinawi, M; Spreitsma, L | 1 |
| Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP | 1 |
| Hong, SP; Kwon, HJ; Lee, JY; Lee, YM; Sim, HJ; Yoon, HR | 1 |
| Allen, RH; Greiner, LS; Jiang, H; Maclean, KN; Stabler, SP | 1 |
| Asano, Y; Tachibana, S; Yamasaki-Yashiki, S | 1 |
| Basili, S; Cerasa, L; Ciabattoni, G; Davì, G; Dragani, A; Falco, A; Lattanzio, S; Patrono, C; Rolandi, G; Santilli, F | 1 |
| D'Almeida, V; Poloni, S; Schwartz, IV; Schweigert Perry, ID | 1 |
| Blom, HJ; Janssen, MC; Kluijtmans, LA; Mendes, MI; Smith, DE; Smulders, YM | 1 |
| Bonham, JR; Lee, PJ; Lewis, MJ; McDowell, IF; Moat, SJ; Powers, HJ; Pullin, CH; Wilson, JF | 1 |
| Fowler, B; Kozich, V; Pristoupilová, K; Suormala, T; Zavad'áková, P; Zavadakova, P; Zeman, J | 1 |
| Mudd, SH; Stabler, SP | 1 |
| Favier, A; Galan, P; Guilland, JC; Hercberg, S; Potier de Courcy, G | 1 |
| Balcells, S; Baldellou, A; Campistol, J; Couce, ML; Grinberg, D; Muñoz, C; Pintó, X; Rodés, M; Urreizti, R; Vilarinho, L; Vilaseca, MA | 1 |
| Delwing, D; Matté, C; Streck, EL; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Sakamoto, A; Sakura, N | 1 |
| FINKELSTEIN, JD; IRREVERRE, F; LASTER, L; MUDD, SH | 2 |
| GERRITSEN, T; WAISMAN, HA | 2 |
| BRENTON, DP; CUSWORTH, DC; GAULL, GE | 2 |
| CARSON, NA; DENT, CE; FIELD, CM; GAULL, GE | 1 |
| Baumgartner, MR; Berghaüser, M; Burlina, A; Coelho, D; Fowler, B; Herwig, J; Koch, HG; Kozich, V; Sewell, A; Suormala, T; Wraith, JE; Zavadakova, P | 1 |
| Balcells, S; Cuartero, ML; Grinberg, D; Lambruschini, N; Martinez de Salinas, M; Pintó, X; Urreizti, R; Vilaseca, MA | 1 |
| Johnson, DA; Kirk, JM; Minns, RA; Sandercock, PA; Tallur, KK | 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 |
| Chen, X; Hua, X; Klein-Szanto, A; Kruger, WD; Tang, B; Wang, L | 1 |
| Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK | 1 |
| Enokido, Y; Iwasawa, K; Kimura, H; Namekata, K; Okazawa, H; Suzuki, E | 1 |
| Eskes, TK | 1 |
| Hamada, H; Kawamoto, M; Mochizuki, S; Sutoh, M; Tsuji, M; Yamada, T; Yuge, O | 1 |
| Snyderman, SE | 1 |
| Lawson-Yuen, A; Levy, HL | 1 |
| Bakogiannis, C; Kalimeris, K; Schulpis, KH; Tsakiris, S; Tsakiris, T | 1 |
| Barling, L; Nightingale, S; Sinclair, AJ | 1 |
| Matté, C; Scherer, EB; Stefanello, FM; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Benevenga, NJ | 2 |
| Bendini, MG; Cozzari, L; De Cristofaro, R; Farina, SM; Giordano, A; Giordano, G; Lanza, GA; Leggio, M; Mazza, A; Menichini, G; Moriconi, E | 1 |
| Banerjee, R; Gherasim, C; Rosenblatt, DS | 1 |
| Boelen, A; Bosch, AM; Duran, M; Kemper-Proper, EA; Oey-Spauwen, MJ; ten Hoedt, AE; van Kempen, AA; Wijburg, FA | 1 |
| Anders, PW; Curtius, HC; Prader, A; Tancredi, F; Werder, EA | 1 |
| Waisman, HA | 1 |
| Carson, NA | 1 |
| Hansen, S; MacDougall, L; Perry, TL; Warrington, PD | 1 |
| Martenet, AC; Speiser, P; Witmer, R | 1 |
| Yoshida, T | 1 |
| Chase, HP; Goodman, SI; O'Brien, D | 1 |
| Finkelstein, JD; Mudd, SH | 1 |
| Tamimie, HS | 3 |
| Carton, D; Hooft, C | 1 |
| Arakawa, T; Hirono, H; Tada, K; Yoshida, T | 1 |
| Boers, GH; de Groot, PG; Gonsalves, MD; van Aken, WG; van Mourik, JA; Willems, C | 1 |
| Cooper, BA; Grauer, K; Lue-Shing, H; Matiaszuk, N; Pottier, A; Rosenblatt, DS | 1 |
| Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ | 1 |
| Gupta, VJ; Reddy, SG; Wilcken, DE | 1 |
| Bishop, AJ; Cooper, BA; Haworth, JC; Rosenblatt, DS; Schroeder, ML; Schuh, S; Seargeant, LE | 1 |
| Dowton, SB; Fulton, AB; Levy, HL; Robb, RM | 1 |
| Dudman, NP; Wilcken, DE | 1 |
| Dautzenberg, MD; Frézal, J; Girot, R; Manigne, P; Munnich, A; Ogier, H; Parvy, P; Saudubray, JM | 1 |
| Cooper, BA; Harpey, JP; Lafourcade, J; Le Moël, G; Rosenblatt, DS; Roy, C | 1 |
| Milner, RD; Wirdnam, PK | 1 |
| Przyrembel, H | 1 |
| Autret, E; Boulard, P; Leroy, J; Ramade, J; Rivron, J | 1 |
| Reddy, GS; Wilcken, DE | 1 |
| Jellum, E; Lie, SO; Marstein, S; Stokke, O | 1 |
| Fowler, B | 1 |
| Hladovec, J | 1 |
| Berio, A | 1 |
| Benevenga, NJ; Berlow, S; Smolin, LA | 1 |
| Gaull, GE; Malloy, MH; Rassin, DK | 1 |
| Perry, TL | 1 |
| Bedros, AA; Carmel, R; Goodman, SI; Mace, JW | 1 |
| Cleophas, AJ; Drayer, JI; Kloppenborg, PW; Smals, AG; Trijbels, JM | 1 |
| Applegarth, DA; Seccombe, D; Vallance, HD | 1 |
| Boers, GH; Janssen, MJ; Stehouwer, CD; van den Berg, M | 1 |
| Boers, GH | 2 |
| Christensen, B; Chu, RC; Rosenblatt, DS; Ueland, PM | 1 |
| Aarsland, A; Mansoor, MA; Svardal, AM; Ueland, PM | 1 |
| Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS | 1 |
| Banga, JD; de Groot, E; de Klerk, JB; de Valk, HW; Duran, M; Haas, FJ; Meuwissen, OJ; Poll-The, BT; Rolland, MO; Smeitink, JA; van der Griend, R; van Eeden, MK; Wittebol-Post, D | 1 |
| Garg, U; Hanson, NQ; Key, NS; Schwichtenberg, K; Suh, A; Tsai, MY | 1 |
| Andria, G; Candito, M; Dellamonica, P; Giudicelli, H; Rolland, MO; Sebastio, G; Sperandeo, MP; Turc-Carel, C | 1 |
| Cone, LA; Huard, GS; Williamson, AE | 1 |
| Sansaricq, C; Snyderman, SE | 1 |
| Arnold, G; Barness, LA; Harding, CO; Rosenblatt, DS; Wolff, JA | 1 |
| Braeuer, HC; Kohlschütter, A; Rosenblatt, DS; Scheying, H; Steen, C | 1 |
| Ito, M; Kuroda, Y; Matsuda, J; Naito, E; Watanabe, T; Yokota, I | 1 |
| Bass, HN; Cederbaum, SD; Chetty, M; Fuster, CD; LaGrave, D; Mardach, R | 1 |
| Blanco Vaca, F; Córdoba Porras, A; González Sastre, F | 1 |
| Carreras, LO; Falcón, CR | 1 |
| Mayne, PD; Naughten, ER; Yap, S | 1 |
| Fowler, B; Jakobs, C | 1 |
| Arn, PH; Driscoll, DJ; Rosenblatt, DS; Williams, CA; Zori, RT | 1 |
| Campeau, E; Gravel, RA; Hwang, HY; Leclerc, D; Phillips, JA; Rosenblatt, DS; Saberi, F; Shane, B; Wilson, A | 1 |
| Cattaneo, M | 1 |
| Abeling, NG; Bakker, HD; Blom, H; van Gennip, AH; van Tinteren, HL; Vreken, P; Wevers, RA | 1 |
| Levy, HL; Peterschmitt, MJ; Simmons, JR | 1 |
| Chen, S; Ito, M; Kuroda, Y; Naito, E; Saijo, T | 1 |
| Adachi, T; Duarte, N; Green, K; Hara, H; Wang, XL; Wilcken, B; Wilcken, DE | 1 |
| Finkelstein, JD | 2 |
| Boers, GH; Levy, HL; Mudd, SH; Tangerman, A; Wilcken, B | 1 |
| Candelli, M; Danese, S; Gasbarrini, A | 1 |
| Bassan, H; Fattal-Valevski, A; Gutman, A; Harel, S; Korman, SH; Lerman-Sagie, T | 1 |
| Refsum, H; Schneede, J; Ueland, PM | 1 |
| Stehouwer, CD; van Guldener, C | 1 |
| Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S | 1 |
| Amirthalakshmi, S; Ramakrishnan, S; Sulochana, KN; Tamilselvi, R; Vasanthi, SB | 1 |
| Barry-Kinsella, C; Naughten, ER; Yap, S | 1 |
| Følling, I; Guttormsen, AB; Kim, CE; Kruger, WD; Ose, L; Refsum, H; Ueland, PM | 1 |
| Charrow, J; Emerick, KM; Kovarik, P; Mack, CL | 1 |
| Howard, PM; Naughten, ER; Rushe, H; Yap, S | 1 |
| Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK | 1 |
| Howard, PM; Mulvihill, A; Naughten, ER; O'Keefe, M; Yap, S | 1 |
| Chassé, JF; Le Hello, C; Mégnien, JL; Parrot, F; Quéré, I; Ruivard, M; Saudubray, JM; Simorre, B; Touati, G; Zittoun, J | 1 |
| Allen, RH; Braverman, N; Geraghty, MT; Kashani, AH; Mudd, SH; Okoh, J; Pomper, M; Stabler, SP; Tangerman, A; Wagner, C; Yaghmai, R | 1 |
| al-Essa, MA; Ozand, PT; Rashed, MS | 1 |
| Streck, EL; Tagliari, B; Wajner, M; Wannmacher, C; Wyse, AT; Zugno, AI | 1 |
| Griffiths, R; Thomas, J; Tudball, N | 1 |
| Enzenauer, J; Matz, D; Menne, F | 1 |
| Mudd, SH | 1 |
| Clayton, BE; Ersser, RS; Lilly, P; Seakins, JW; Whiteman, PD | 1 |
| Butenandt, O | 1 |
| Ambani, LM; Maskati, BT; Mehta, BC; Patel, ZM; Rao, BS | 1 |
| Gaull, GE | 2 |
| Spaeth, GL | 1 |
| Cooper, BA | 1 |
| Caillat, D; Favier, A | 1 |
| Wilcken, B; Wilcken, DE | 1 |
| Frimpter, GW | 2 |
| McCully, KS | 2 |
| Finkelstein, JD; Freeman, JM; Mudd, SH | 1 |
| Baldessarini, RJ | 1 |
| Conerly, EB; Edwards, WA; Mudd, SH; Poole, JR | 1 |
| Davis, JW; Flournoy, LD; Phillips, PE | 1 |
| Haraguchi, H | 1 |
| Cochran, FB; Packman, S | 1 |
| Blom, HJ; Boers, GH; Gahl, WA; Tangerman, A; Trijbels, JM | 1 |
| Brattström, L; Hultberg, B; Israelsson, B; Lagerstedt, C; Tengborn, L | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Holme, E; Kjellman, B; Ronge, E | 1 |
| Rosenblatt, DS; Watkins, D | 2 |
| Blom, HJ; Boers, GH; Tangerman, A; Trijbels, JM; van Roessel, JJ | 1 |
| Dudman, NP; Wilcken, DE; Wiley, VC | 1 |
| Allard, D; Ceballos, I; Chadefaux, B; Jérôme, H | 1 |
| Bernardini, I; Chen, S; Gahl, WA; Horvath, K; Kurtz, D | 1 |
| Lyon, IC; Webster, DR | 1 |
| Furukawa, S; Ito, M; Kuroda, Y; Miyao, M; Naito, E; Takeda, E; Tomita, T; Toshima, K; Watanabe, T | 2 |
| Allegranza, F; Berio, A; Gamalero, PC | 1 |
| Cooper, BA; Erbe, RW; Rosenblatt, DS; Thomas, IT; Watkins, D | 1 |
| Andria, G; Boers, GH; Bromberg, IL; Cerone, R; Levy, HL; Mudd, SH; Pettigrew, KD; Pyeritz, RE; Skovby, F; Wilcken, B | 1 |
| Matalon, R; Michals, K; Murphy, JV; Thome, LM | 1 |
| Dudman, NP; Tyrrell, PA; Wilcken, DE | 1 |
| Bracken, P; Coll, P | 1 |
| Boers, GH; Fowler, B; Kleijer, WJ; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ | 1 |
| Bakkeren, JA; Boers, GH; Fowler, B; Kleijer, WJ; Kloppenborg, PW; Schoonderwaldt, HC; Smals, AG; Trijbels, FJ | 1 |
| Briggs, MH; Thomson, SB; Tucker, DJ | 1 |
| Turner, B | 1 |
| Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B | 1 |
| Roe, DA | 1 |
| Ikegami, T; Kodama, H; Oura, T; Yao, K | 1 |
| Royer, P | 1 |
| Cline, JW; Goyer, RA; Lipton, J; Mason, RG | 1 |
| Hambraeus, L; Holmgren, G; Lestrup, E; Tangen, O | 1 |
| Brandt, NJ; Hilden, M | 1 |
| Sviatkina, OB; Vel'tishchev, IuE | 1 |
| Fleisher, LD; Gaull, GE | 1 |
| Dehnel, JM; Francis, MJ | 1 |
| Turner, B; Wilcken, B | 1 |
| Tomaszewski, L | 1 |
| Gröbe, H | 1 |
| Conerly, EB; Mudd, SH; Uhlendorf, BW | 1 |
| Carson, NA; Ritchie, JW | 1 |
| Kang, AH; Trelstad, RL | 1 |
| Machill, G | 1 |
| Falkmer, S; Hambraeus, L; Holmgren, G | 1 |
| Cohen, M; Feiler-Ofry, V; Gobel, V; Sachs, W | 1 |
| Gebala, A; Kozlowska, T | 1 |
| Gaull, G; Schaffner, F; Sturman, JA | 1 |
| Brandt, NJ; Hilden, M; Nilsson, IM; Schonheyder, F | 1 |
| Fowler, B; Komrower, GM; Robins, AJ; Sardharwalla, IB | 1 |
| Ampola, MG; Efron, ML | 1 |
| Chatagner, F | 1 |
| Menne, F | 1 |
| Brancato, R; Cotrozzi, G | 1 |
| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P | 1 |
| Charpentier, C; Leluc, R; Lemonnier, A | 1 |
| Brandt, NJ; Hilden, M; Quaade, F; Schonheyder, F | 1 |
| Dickinson, JP; Drayer, NM | 1 |
| Hagge, W | 1 |
| Brown, DA; Turner, B; Wilcken, B | 1 |
| Cernea, P; Zbranca, E | 1 |
| Durant, JL; Rosenberg, LE; Seashore, MR | 1 |
| Finkelstein, JD; Freeman, JM; Mudd, SH; Shih, VE; Uhlendorf, BW | 1 |
| Barness, LA; Morrow, G | 1 |
| Applegarth, DA; Auckland, NL; Bozoian, G; Hardwick, DF; Ingram, F | 1 |
| Barkin, E; Levy, HL | 1 |
| Fowler, B; Robins, AJ; Sardharwalla, IB | 1 |
| Clayton, BE | 1 |
| Benson, PF; Hamerton, JL; Young, V | 1 |
| Copeland, W; Kelly, S; Leikhim, E | 1 |
| Bombart, E; Caron-Poitreau, C; Foissac-Gegoux, MC; Gaudier, B; Nuyts, JP; Remy, J | 1 |
| Gaull, G | 1 |
| Garston, JB; Gordon, RR; Hart, CT; Pollitt, RJ | 1 |
| Fenichel, GM | 1 |
| Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH | 1 |
| Byers, RK; Gerald, PS; Kang, ES | 1 |
| Falk, W | 1 |
| Efron, ML; Shih, VE | 1 |
| Käser, H; Mönch, E; Stefan, H | 1 |
| Hagge, W; Irtel von Brenndorff, A | 1 |
| Goodman, SI; Hammond, KB; Moe, PG; Mudd, SH; Uhlendorf, BW | 1 |
| Shih, VE | 1 |
| Bensch, K; Hagberg, B; Hambraeus, L | 1 |
| Narayanan, HS; Rao, R; Reddy, GN; Sridhara, BS | 1 |
| Gjessing, LR | 1 |
| Bradley, KH; Schneider, JA; Seegmiller, JE | 1 |
| Anders, PW; Curtius, HC; Martenet, AC | 1 |
| Mudd, SH; Uhlendorf, BW | 1 |
| Carey, MC; Fennelly, JJ; FitzGerald, O | 1 |
| Hagberg, B; Hambraeus, L | 1 |
| Antener, I; Hooft, C | 1 |
| Schimke, RN | 1 |
| Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH | 1 |
| Ellis, BA; Kaeser, AC; Rodnight, R | 1 |
| Gjessing, LR; Seip, M; Vellan, EJ | 1 |
| Carré, IJ; Carson, NA | 1 |
| Gershon, ES; Shader, RI | 1 |
| Barber, GW; Spaeth, GL | 1 |
| Harper, JR; Parkinson, MS | 1 |
| Araki, S; Cowen, D; Rowland, LP; Thompson, HL; White, HH | 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 |
42 review(s) available for methionine and CBS Deficiency
| Article | Year |
|---|---|
Homocystinuria and ocular complications - A review.
Topics: Cystathionine beta-Synthase; Homocystinuria; Humans; Methionine | 2022 |
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds | 2020 |
Cystathionine β-synthase deficiency: Of mice and men.
Topics: Animals; Animals, Newborn; Cystathionine beta-Synthase; Disease Models, Animal; Genotype; Homocysteine; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Mice; Mutation; Phenotype; Pyridoxine | 2017 |
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Neonatal Screening; Practice Guidelines as Topic | 2015 |
The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.
Topics: Acetylcysteine; Amino Acids, Sulfur; Animals; Betaine; Cystathionine beta-Synthase; Diet; Dietary Supplements; Disease Models, Animal; Genotype; Homocystinuria; Humans; Metabolic Networks and Pathways; Methionine; Mice; Mice, Knockout; Mutation; Phenotype | 2016 |
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Topics: Betaine; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine | 2017 |
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 |
[Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data].
Topics: Animals; Arteriosclerosis; Biomarkers; Cystathionine beta-Synthase; Folic Acid Deficiency; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Models, Biological; Nitric Oxide; Oxidative Stress; Oxidoreductases Acting on CH-NH Group Donors; Rats; Risk Factors; S-Adenosylmethionine; Signal Transduction; Thrombophilia; Vascular Diseases; Vasodilation; Vitamin B 6 Deficiency | 2003 |
Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; DNA; Down Syndrome; Female; Ferredoxin-NADP Reductase; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mothers; Mutation | 2006 |
The use of betaine in the treatment of elevated homocysteine.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation | 2006 |
[Risk factors for cardiovascular diseases: what is the role for homocysteine?].
Topics: Cardiovascular Diseases; Folic Acid; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Prospective Studies; Randomized Controlled Trials as Topic; Retrospective Studies; Risk Factors; Vitamin B 12; Vitamin B 6 | 2007 |
Evidence for alternative pathways of methionine catabolism.
Topics: Animals; Betaine; Carbon Dioxide; Choline; Decarboxylation; Diet; Homocystinuria; Humans; Liver; Methionine; Models, Biological; Oxidation-Reduction; Propionates; S-Adenosylmethionine; Sarcosine; Transaminases | 1984 |
Homocystinuria.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Adolescent; Alcohol Oxidoreductases; Animals; Bone Diseases, Metabolic; Central Nervous System Diseases; Child; Child, Preschool; Cystathionine beta-Synthase; Diagnosis, Differential; Eye Manifestations; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Vascular Diseases | 1982 |
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure?
Topics: Adult; Age Factors; Arteriosclerosis; Cystathionine beta-Synthase; Cysteine; Female; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; Humans; Kidney Failure, Chronic; Male; Methionine; Methylation; Middle Aged; Renal Dialysis; Sex Factors | 1995 |
Hyperhomocysteinaemia: a newly recognized risk factor for vascular disease.
Topics: Arteriosclerosis; Betaine; Coronary Disease; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Methionine; Pyridoxine; Risk Factors; Vascular Diseases | 1994 |
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Macrocytic; Anemia, Megaloblastic; Anorexia; Child, Preschool; Developmental Disabilities; Female; Fibroblasts; Genetic Complementation Test; Homocystine; Homocystinuria; Humans; Male; Methionine; Skin; Vitamin B 12 | 1997 |
[Hyperhomocysteinemia: a new marker of vascular risk: affected vascular areas, its role in the pathogenesis of arteriosclerosis and thrombosis and treatment].
Topics: Adult; Coronary Artery Disease; Coronary Thrombosis; Female; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Peripheral Vascular Diseases; Pregnancy; Thrombophlebitis; Vitamins | 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 |
Hyperhomocysteinemia, atherosclerosis and thrombosis.
Topics: Adult; Aged; Animals; Arteriosclerosis; Avitaminosis; Case-Control Studies; Clinical Trials as Topic; Cohort Studies; Cross-Sectional Studies; Cystathionine beta-Synthase; Female; Folic Acid; Gene Frequency; Homocysteine; Homocystinuria; Hormone Replacement Therapy; Humans; Hyperhomocysteinemia; Male; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle, Smooth, Vascular; Oxidoreductases Acting on CH-NH Group Donors; Prevalence; Primates; Prospective Studies; Pyridoxine; Risk Factors; Smoking; Tamoxifen; Thrombophilia; Thrombosis; Vitamin B 12 | 1999 |
Homocysteine: a history in progress.
Topics: History, 19th Century; History, 20th Century; Homocysteine; Homocystinuria; Humans; Insulin; Methionine; Neural Tube Defects; North America; Research; S-Adenosylmethionine; Workforce | 2000 |
Biological and environmental determinants of plasma homocysteine.
Topics: Adult; Aged; Aging; Alcohol Drinking; Child; Cystathionine beta-Synthase; Diagnosis-Related Groups; Dietary Proteins; Endocrine System Diseases; Female; Folic Acid Antagonists; Folic Acid Deficiency; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Inflammation; Intestinal Diseases; Life Style; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Neoplasms; Niacin; Nitrous Oxide; Norway; Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Renal Insufficiency; Smoking; Vitamin B 12 Deficiency; Vitamin B 6 Deficiency | 2000 |
Hyperhomocysteinemia, vascular pathology, and endothelial dysfunction.
Topics: Adult; Animals; Arteriosclerosis; Biomarkers; Blood Vessels; Cardiovascular Diseases; Carotid Stenosis; Child; Comorbidity; Coronary Angiography; Endothelium, Vascular; Female; Genetic Predisposition to Disease; Genotype; Homocystinuria; Humans; Hyperhomocysteinemia; Hyperplasia; Hypertension; Kidney Failure, Chronic; Male; Methionine; Middle Aged; Muscle, Smooth, Vascular; Nitric Oxide; Oxidative Stress; Prevalence; Rabbits; Rats; Vasodilation | 2000 |
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Cohort Studies; Cystine; Drug Resistance; Female; Folic Acid; Follow-Up Studies; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant; Ireland; Male; Methionine; Middle Aged; Netherlands; Pyridoxine; Risk; Risk Factors; Thrombophilia; Vascular Diseases; Vitamin B 12 | 2000 |
[From gene to disease; from homocysteine to hyperhomocysteinemia].
Topics: Cystathionine beta-Synthase; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Hyperhomocysteinemia; Methionine; Mutation; Risk Factors; Vascular Diseases | 2001 |
[Homocystinuria in adulthood].
Topics: Adult; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine | 2001 |
Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness.
Topics: Adolescent; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Metabolism, Inborn Errors; Methionine; Methylation; Pyridoxine; Sulfur | 1979 |
The usefulness of pyridoxine in the treatment of homocystinuria: a review of postulated mechanisms of action and a new hypothesis.
Topics: Cystathionine beta-Synthase; Homeostasis; Homocystinuria; Humans; Methionine; Pyridoxine | 1976 |
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood.
Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Biological Transport; Bone Marrow; Bone Marrow Cells; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Orotic Acid; Phenylketonurias; Tetrahydrofolate Dehydrogenase; Transcobalamins; Vitamin B 12 | 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 |
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Anemia, Megaloblastic; Cells, Cultured; Female; Fibroblasts; Genetic Complementation Test; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Methyltransferases; Nervous System Diseases; Vitamin B 12 | 1989 |
Sulphur metabolism in relation to cutaneous disease.
Topics: Chondroitin; Dermatitis, Exfoliative; Glycosaminoglycans; Hair; Homocystinuria; Humans; Keratins; Methionine; Psoriasis; Skin Diseases; Sulfates; Sulfur | 1969 |
[Homocystinuria].
Topics: Child, Preschool; Homocystinuria; Humans; Infant; Methionine | 1972 |
[Hereditary anomalies of methionine metabolism in children].
Topics: Age Factors; Child; Flatfoot; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Kyphosis; Marfan Syndrome; Metabolism, Inborn Errors; Methionine; Scoliosis | 1972 |
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 |
Methionine metabolism in mammals: the biochemical basis for homocystinuria.
Topics: Alcohol Oxidoreductases; Cell-Free System; Cystathionine; Fibroblasts; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Liver; Methionine; Methylation; Methyltransferases; Protein Biosynthesis; Tetrahydrofolate Dehydrogenase; Tetrahydrofolates | 1974 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
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 |
Tissue-specific changes in levels of enzymes of methionine metabolism.
Topics: Age Factors; Amino Acids; Animals; Cystine; Dietary Proteins; Homocystinuria; Hormones; Humans; Hydro-Lyases; Methionine; Rats; Transferases | 1968 |
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 |
[Homocystinuria (collective review)].
Topics: Diagnosis, Differential; Diet Therapy; Ectropion; Eye Manifestations; Homocystinuria; Humans; Methionine | 1968 |
3 trial(s) available for methionine and CBS Deficiency
| Article | Year |
|---|---|
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Topics: Betaine; Child; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Prospective Studies; S-Adenosylmethionine; Vitamin B 12 Deficiency | 2022 |
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Cystathionine; Disease Management; Dried Blood Spot Testing; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Tandem Mass Spectrometry | 2014 |
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.
Topics: Adolescent; Adult; Amino Acids; Betaine; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Minerals; Pyridoxine; Spine; Tomography, X-Ray Computed | 1988 |
257 other study(ies) available for methionine and CBS Deficiency
| Article | Year |
|---|---|
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria].
Topics: Adolescent; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Pyridoxine; Retrospective Studies; Vitamins | 2022 |
Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study.
Topics: Amino Acids; Bone Density; Calcium; Calcium Phosphates; Child; Cholecalciferol; Homocystinuria; Humans; Methionine; Poland; Racemethionine | 2023 |
An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract.
Topics: Animals; Cystathionine beta-Synthase; Gastrointestinal Tract; Homocysteine; Homocystinuria; Humans; Methionine; Mice; Racemethionine | 2023 |
A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.
Topics: Cystathionine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Fruit; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine; Racemethionine; Vegetables | 2023 |
Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.
Topics: Animals; Behavior, Animal; Body Composition; Cystathionine beta-Synthase; Disease Models, Animal; Enzyme Replacement Therapy; Homocystinuria; Humans; Methionine; Mice; Mice, Transgenic | 2019 |
Early treatment using betaine and methionine for a neonate with MTHFR deficiency.
Topics: Betaine; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Japan; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Treatment Outcome | 2019 |
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 |
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Topics: Betaine; Cystathionine beta-Synthase; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Laboratories; Methionine; Methylation | 2020 |
Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
Topics: Animals; Betaine; Cystathionine beta-Synthase; Enzyme Therapy; Female; Homocysteine; Homocystinuria; Humans; Male; Methionine; Mice; Recombinant Proteins | 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 |
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Cystathionine beta-Synthase; Delayed Diagnosis; Europe; Female; Homocystinuria; Humans; Infant; Linear Models; Male; Methionine; Middle Aged; Phenotype; Pyridoxine; Registries; Severity of Illness Index; Young Adult | 2021 |
Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
Topics: Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Liver Transplantation; Male; Methionine; Neonatal Screening; Pediatrics | 2021 |
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Topics: Adenosylhomocysteinase; Animals; Betaine; Cystathionine beta-Synthase; Disease Models, Animal; Folic Acid; Gene Expression Regulation, Enzymologic; Glycine Hydroxymethyltransferase; Homocysteine; Homocystinuria; Humans; Liver; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Polyamines | 2021 |
The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
Topics: Homocystinuria; Humans; Infant; Infant, Newborn; Methionine; Neonatal Screening; Saudi Arabia | 2021 |
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Topics: Acetylgalactosamine; Adult; Arginine; Cystathionine beta-Synthase; Female; Folic Acid; Heme; Homeostasis; Homocysteine; Homocystinuria; Humans; Hydroxymethylbilane Synthase; Hyperhomocysteinemia; Male; Methionine; Middle Aged; Porphyria, Acute Intermittent; Pyridoxal Phosphate; Pyrrolidines; Young Adult | 2021 |
The high degree of cystathionine β-synthase (CBS) activation by S-adenosylmethionine (SAM) may explain naked mole-rat's distinct methionine metabolite profile compared to mouse.
Topics: Animals; Cystathionine; Cystathionine beta-Synthase; Enzyme Activation; Homocysteine; Homocystinuria; Methionine; Mice; Mole Rats; S-Adenosylhomocysteine; S-Adenosylmethionine | 2018 |
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Topics: Computer Simulation; Cystathionine beta-Synthase; Enzyme Stability; Gene Expression Regulation, Enzymologic; HEK293 Cells; Hep G2 Cells; Homocystinuria; Humans; Methionine; Molecular Chaperones; Mutant Proteins; Mutation, Missense; Protein Folding; Protein Structure, Tertiary; Qatar; Structure-Activity Relationship | 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 |
Stroke in a young man.
Topics: Adult; Betaine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Homocysteine; Homocystinuria; Humans; Lipotropic Agents; Male; Methionine; Platelet Aggregation Inhibitors; Pyridoxine; Stroke; Treatment Outcome; Vision Disorders; Vitamin B Complex | 2013 |
Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation.
Topics: Adult Stem Cells; Animals; Animals, Newborn; Cells, Cultured; Dietary Supplements; DNA Methylation; Female; Genomic Instability; Homocystinuria; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Transgenic; Muscle Spasticity; Psychotic Disorders; Spermatogonia | 2013 |
Cystathionine β-synthase-deficient mice thrive on a low-methionine diet.
Topics: Absorptiometry, Photon; Animals; Cystathionine beta-Synthase; Disease Models, Animal; Female; Homocystinuria; Male; Methionine; Mice; Mice, Knockout | 2014 |
Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Diet, Protein-Restricted; Europe; Female; Homocysteine; Homocystinuria; Humans; Infant; Male; Methionine; Pyridoxine; Surveys and Questionnaires; Treatment Outcome | 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 |
Methylation and gene expression responses to ethanol feeding and betaine supplementation in the cystathionine beta synthase-deficient mouse.
Topics: Animals; Betaine; Dietary Supplements; DNA (Cytosine-5-)-Methyltransferase 1; DNA (Cytosine-5-)-Methyltransferases; DNA Methylation; Ethanol; Fatty Liver, Alcoholic; Gene Expression Regulation; Homocystinuria; Liver; Methionine; Mice; Mice, Inbred C57BL; Nitric Oxide Synthase Type II; PPAR alpha; S-Adenosylhomocysteine; S-Adenosylmethionine | 2014 |
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.
Topics: Amino Acids, Neutral; Animals; Comorbidity; Cystathionine; Cystathionine beta-Synthase; Cystathionine gamma-Lyase; Disease Models, Animal; Female; Homocystinuria; Hyperhomocysteinemia; Kidney Tubules, Proximal; Male; Methionine; Mice; Mice, Inbred C57BL; Mice, Knockout; Renal Aminoacidurias | 2014 |
Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
Topics: Acetylcholinesterase; Animals; Apoptosis; Betaine; Cerebellum; Choline; Choline O-Acetyltransferase; Disease Models, Animal; DNA Methylation; Ferredoxin-NADP Reductase; Gene Expression; Hippocampus; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Male; Memory, Short-Term; Methionine; Mice; Mice, Knockout; Synaptic Transmission | 2014 |
Quantitation of sulfur-containing amino acids, homocysteine, methionine and cysteine in dried blood spot from newborn baby by HPLC-fluorescence detection.
Topics: Chromatography, High Pressure Liquid; Cysteine; Dried Blood Spot Testing; Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Neonatal Screening | 2014 |
Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways.
Topics: Animals; Blotting, Western; Carboxy-Lyases; Cystathionine beta-Synthase; Cysteine; Cysteine Dioxygenase; Dietary Supplements; Female; Homocystinuria; Humans; Liver; Male; Methionine; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Oxidation-Reduction; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sulfur; Taurine | 2014 |
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
Topics: Adolescent; Betaine; Female; Folic Acid; Homocystinuria; Humans; Lipotropic Agents; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Myoclonic Epilepsies, Progressive; Psychotic Disorders; Vitamin B Complex | 2014 |
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Topics: Aged; Cardiovascular Diseases; Case-Control Studies; Cystathionine beta-Synthase; Dietary Supplements; Fasting; Female; Folic Acid; Folic Acid Deficiency; Genotyping Techniques; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Prevalence; Risk Factors; Taiwan; Vitamin B 12 | 2015 |
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 |
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Topics: Ataxia; Betaine; Child; Female; Folic Acid; Genetic Association Studies; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Phenotype; Psychotic Disorders; Retrospective Studies; Spinal Cord Diseases; Vitamin B 12 | 2016 |
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Topics: Animals; Betaine; Bone Density; Cystathionine beta-Synthase; Diet; Dietary Supplements; Disease Models, Animal; Female; Homocystinuria; Male; Methionine; Mice; Mice, Inbred C57BL; Osteoporosis; Phenotype; Weight Gain; Weight Loss | 2016 |
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
Topics: Betaine; Brain; Brain Edema; Cell Membrane; Diet, Protein-Restricted; Diffusion Magnetic Resonance Imaging; Homocystinuria; Humans; Lipotropic Agents; Male; Methionine; White Matter; Young Adult | 2015 |
Low bone mineral density is a common finding in patients with homocystinuria.
Topics: Absorptiometry, Photon; Adolescent; Adult; Bone Density; Child; Child, Preschool; Female; Homocysteine; Homocystinuria; Humans; Lumbar Vertebrae; Male; Methionine; Middle Aged; Osteoporosis; Retrospective Studies; Young Adult | 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 |
Simultaneous Determination of Methionine and Homocysteine by on-column derivatization with o-phtaldialdehyde.
Topics: Adult; Animals; Chromatography, High Pressure Liquid; Female; Homocysteine; Homocystinuria; Humans; Limit of Detection; Male; Methionine; Mice; Mice, Transgenic; o-Phthalaldehyde | 2016 |
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
Topics: Adolescent; Base Sequence; Homocystinuria; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Psychotic Disorders | 2017 |
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
Topics: Child; Developmental Disabilities; Female; Homocysteine; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Severity of Illness Index; Vitamin B 12 | 2008 |
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Topics: Adolescent; Betaine; Cystathionine beta-Synthase; Female; Gastrointestinal Agents; Homocysteine; Homocystinuria; Humans; Methionine; Siblings | 2008 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Association Studies; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid; Neonatal Screening; New York; Propionates; Referral and Consultation; Vitamin B 12 | 2010 |
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.
Topics: Chromatography, High Pressure Liquid; Cystathionine beta-Synthase; DNA Mutational Analysis; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Infant, Newborn; Methionine; Neonatal Screening; Qatar; Sensitivity and Specificity; Tandem Mass Spectrometry | 2010 |
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Caseins; Cloning, Molecular; Cystathionine beta-Synthase; Escherichia coli; Homocystinuria; Humans; Methionine; Protein Engineering; Recombinant Proteins | 2010 |
Increased homocysteine in a patient diagnosed with Marfan syndrome.
Topics: Cystathionine beta-Synthase; Diagnosis, Differential; Female; Homocysteine; Homocystinuria; Humans; Marfan Syndrome; Methionine; Middle Aged; Mutation | 2010 |
Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.
Topics: Anion Exchange Resins; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Electrochemistry; False Positive Reactions; Galactose; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Reproducibility of Results | 2012 |
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Blood Coagulation; Cystathionine beta-Synthase; Diet; Dietary Supplements; Disease Models, Animal; Homocysteine; Homocystinuria; Interleukin-1beta; Male; Methionine; Methylation; Mice; Mice, Inbred C57BL; Mice, Transgenic; Thrombosis; Tumor Necrosis Factor-alpha | 2012 |
Determination of L-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine β-synthase deficiency.
Topics: Amino Acid Oxidoreductases; Calibration; Chromatography, High Pressure Liquid; Cystathionine beta-Synthase; Dried Blood Spot Testing; Enzyme Assays; Fluorescence; Fluorometry; Homocystinuria; Humans; Methionine; Reproducibility of Results; Transaminases | 2012 |
Oxidative stress and platelet activation in subjects with moderate hyperhomocysteinaemia due to MTHFR 677 C→T polymorphism.
Topics: Biomarkers; Cardiovascular Diseases; Comorbidity; Cross-Sectional Studies; Diabetes Mellitus; Dinoprost; Dyslipidemias; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; Lipid Peroxidation; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Oxidative Stress; Platelet Activation; Polymorphism, Single Nucleotide; Psychotic Disorders; Smoking; Thromboxane B2 | 2012 |
Does phase angle correlate with hyperhomocysteinemia? A study of patients with classical homocystinuria.
Topics: Adolescent; Adult; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Life Expectancy; Male; Methionine; Prognosis; Young Adult | 2013 |
A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.
Topics: Animals; Cell Extracts; Cells, Cultured; Chromatography, Liquid; Cystathionine beta-Synthase; Female; Fibroblasts; Homocystinuria; Humans; Hydrogen-Ion Concentration; Linear Models; Liver; Methionine; Rats; Rats, Wistar; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry | 2012 |
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.
Topics: Adult; Ascorbic Acid; Blood Flow Velocity; Blood Pressure; Brachial Artery; Endothelium, Vascular; Female; Heart Rate; Homocystine; Homocystinuria; Humans; Male; Methionine; Nitric Oxide; Nitroglycerin; Tetrahydrofolates; Vasodilation | 2002 |
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
Topics: Adult; Anemia, Megaloblastic; Base Sequence; Cells, Cultured; Child; Chromatography, Ion Exchange; DNA; Female; Ferredoxin-NADP Reductase; Fibroblasts; Folic Acid; Homocysteine; Homocystinuria; Humans; Methionine; Molecular Sequence Data; Mutation; Prenatal Diagnosis; Reverse Transcriptase Polymerase Chain Reaction; Serine; Vitamin B 12 | 2002 |
Population screening.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Vitamin B 6 | 2003 |
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Animals; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Genotype; Glycine; Homocystinuria; Humans; Infant; Isoleucine; Male; Methionine; Middle Aged; Molecular Sequence Data; Phenotype; Portugal; Prevalence; Serine; Spain; Threonine | 2003 |
Brain energy metabolism is compromised by the metabolites accumulating in homocystinuria.
Topics: Animals; Brain; Carbon Dioxide; Disease Models, Animal; Electron Transport Complex IV; Energy Metabolism; Glucose; Hippocampus; Homocysteine; Homocystinuria; Methionine; Rats; Rats, Wistar | 2003 |
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
Topics: Betaine; Child, Preschool; Chromatography, High Pressure Liquid; Female; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Treatment Outcome | 2003 |
HOMOCYSTINURIA: AN ENZYMATIC DEFECT.
Topics: Amino Acids; Blood Protein Disorders; Carbon Isotopes; Child; Cystic Fibrosis; Cystinuria; Fatty Liver; Homocystinuria; Humans; Hypoproteinemia; Intellectual Disability; Ligases; Liver; Methionine; Pancreatic Neoplasms; Proteins; Psoriasis | 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 |
HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.
Topics: Amino Acids; Brain; Child; Chromatography; Cystathionine; Cystathionine beta-Synthase; Cystine; Homocystinuria; Humans; Hydro-Lyases; Kidney; Liver; Metabolic Diseases; Methionine; Nerve Tissue Proteins; Renal Aminoacidurias; Serine; Taurine; Transferases | 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 |
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 |
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Alkyl and Aryl Transferases; Child; Child, Preschool; Cobamides; DNA, Complementary; Fibroblasts; Genetic Complementation Test; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylmalonyl-CoA Mutase; Models, Biological; Mutation; Phenotype; Vitamin B 12; Vitamin B 12 Deficiency | 2004 |
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Topics: Abortion, Spontaneous; Adult; Anticoagulants; Betaine; Diet, Protein-Restricted; Female; Gastrointestinal Agents; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Polymorphism, Genetic; Pregnancy; Pregnancy Complications; Pyridoxine | 2004 |
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Topics: Activities of Daily Living; Adolescent; Adult; Betaine; Brain; Drug Therapy, Combination; Female; Folic Acid; Follow-Up Studies; Homocystinuria; Humans; Intelligence; Leukoencephalopathy, Progressive Multifocal; Long-Term Care; Magnetic Resonance Imaging; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Neurologic Examination; Treatment Outcome | 2005 |
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 |
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Topics: Animals; Cystathionine beta-Synthase; Genotype; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Methionine; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Mutagenesis, Site-Directed; Phenotype | 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 |
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Topics: Animals; Astrocytes; Brain; Bromodeoxyuridine; Cell Lineage; Central Nervous System; Cerebellum; Cerebral Cortex; Corpus Callosum; Cyclic AMP; Cystathionine beta-Synthase; Dexamethasone; Epidermal Growth Factor; Gene Expression Regulation, Developmental; Gene Expression Regulation, Enzymologic; Glucocorticoids; Heterozygote; Hippocampus; Homocysteine; Homocystinuria; Immunoblotting; Immunohistochemistry; In Situ Hybridization; Kainic Acid; Ligands; Methionine; Mice; Mice, Transgenic; Microscopy, Fluorescence; Models, Biological; Neuroglia; Olfactory Bulb; Oxidative Stress; Transforming Growth Factor alpha; Up-Regulation | 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 |
Liver failure and neurologic disease in a patient with homocystinuria.
Topics: Adult; Homocysteine; Homocystinuria; Humans; Liver Failure; Liver Transplantation; Male; Methionine; Nervous System Diseases | 2006 |
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
Topics: Acetylcholinesterase; Amino Acids, Sulfur; Animals; Animals, Suckling; Electrophorus; Enzyme Activation; Hippocampus; Homocysteine; Homocystine; Homocystinuria; In Vitro Techniques; Methionine; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar | 2006 |
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
Topics: Adult; Brain; Dystonia; Folic Acid Deficiency; Homocystine; Homocystinuria; Humans; Male; Methionine; Recurrence; Torticollis | 2006 |
Chemically induced model of hypermethioninemia in rats.
Topics: Age Factors; Analysis of Variance; Animals; Animals, Newborn; Brain; Disease Models, Animal; Homocystinuria; Methionine; Rats; Rats, Wistar; Tissue Distribution | 2007 |
Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects.
Topics: Betaine; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Methionine; Methylation; Neural Tube Defects; Nutritional Physiological Phenomena; S-Adenosylmethionine; Tetrahydrofolates; Vitamin B Complex | 2007 |
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
Topics: Escherichia coli; Ferredoxin-NADP Reductase; Flavins; Homocystinuria; Humans; Kinetics; Leucine; Methionine; Models, Molecular; Mutation; Phenotype; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Serine; Valine | 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 |
[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 |
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 |
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 simple thin-layer-chromatographic method for detection of urinary homocystine.
Topics: Amino Acids; Chromatography, Thin Layer; Cystinuria; Homocystine; Homocystinuria; Humans; Methionine | 1967 |
Treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pedigree | 1967 |
Trans-sulfuration in mammals. The methionine-sparing effect of cystine.
Topics: Cystine; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Methionine; Transferases | 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 |
Influence of niacin and L-tryptophan on the growth depressive performance of chicks fed high levels of L-phenylalanine and L-methionine.
Topics: Animals; Body Weight; Diet; Growth; Homocystinuria; Humans; Methionine; Nicotinic Acids; Phenylalanine; Phenylketonurias; Poultry; Tryptophan | 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 |
Endothelial cell dysfunction in homocystinuria.
Topics: Cells, Cultured; Chromium Radioisotopes; Endothelium; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Platelet Aggregation; Umbilical Cord | 1983 |
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Macrocytic; Anemia, Megaloblastic; Cells, Cultured; Fibroblasts; Homocystinuria; Humans; Methionine; Nitrous Oxide; Vitamin B 12 | 1984 |
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
Topics: Adult; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Pyridoxine | 1983 |
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Topics: Adult; Amino Acids, Sulfur; Aminobutyrates; Coronary Disease; Diseases in Twins; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Myocardial Infarction; Pregnancy; Twins, Monozygotic | 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 |
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 |
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Age Factors; Amino Acids, Sulfur; Ceruloplasmin; Child; Child, Preschool; Copper; Cystathionine beta-Synthase; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Middle Aged; Oxidoreductases Acting on CH-NH Group Donors; Sex Factors; Superoxide Dismutase | 1983 |
Diet-responsive proconvertin (factor VII) deficiency in homocystinuria.
Topics: Child; Factor VII Deficiency; Female; Homocystinuria; Humans; Male; Methionine; Methylation | 1983 |
Folate-responsive homocystinuria and "schizophrenia'.
Topics: Adolescent; Female; Folic Acid; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Dehydrogenase (NADP); Models, Biological; Oxidoreductases; Schizophrenia | 1982 |
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Alcohol Oxidoreductases; Amino Acids; Drug Therapy, Combination; Female; Folic Acid; Homocystinuria; Humans; Infant; Leucovorin; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Pyridoxine; Skin; Tetrahydrofolates; Vitamin B 12 | 1981 |
The pancreatic beta cell fraction in children with errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1982 |
[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)].
Topics: Child; Chorea; Female; Homocystinuria; Humans; Methionine; Pyridoxine; Thrombosis | 1982 |
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients.
Topics: Adolescent; Adult; Amino Acids; Aminobutyrates; Animals; Child; Child, Preschool; Dipeptides; Disease Models, Animal; Homocysteine; Homocystine; Homocystinuria; Humans; Kinetics; Methionine; Middle Aged; Swine; Taurine | 1982 |
Accumulation of pyroglutamic acid (5-oxoproline) in homocystinuria.
Topics: Amino Acids; Animals; Child; Cystathionine beta-Synthase; Fibroblasts; Glutathione; Guinea Pigs; Homocystinuria; Humans; Male; Methionine; Pyroglutamate Hydrolase; Pyrrolidinones; Pyrrolidonecarboxylic Acid; Tissue Extracts | 1982 |
Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts.
Topics: Cell Line; Cells, Cultured; Cystathionine beta-Synthase; Cysteine; Fibroblasts; Homocysteine; Homocystinuria; Humans; Methionine; Methylation; Mutation; Skin; Sulfur Radioisotopes | 1982 |
Methionine, pyridoxine and endothelial lesion in rats.
Topics: Animals; Aspirin; Dose-Response Relationship, Drug; Drug Antagonism; Endothelium; Female; Homocystinuria; Humans; Hydroxyethylrutoside; Methionine; Pyridoxine; Rats | 1980 |
[Prolonged diet therapy in a case of homocystinuria].
Topics: Child, Preschool; Female; Homocystinuria; Humans; Methionine | 1980 |
The use of betaine for the treatment of homocystinuria.
Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine | 1981 |
Plasma cyst(e)ine in homocyst(e)inemia.
Topics: Blood Proteins; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Protein Binding | 1981 |
Mild elevations of plasma ornithine in homocystinuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Homocystinuria; Humans; Male; Methionine; Ornithine; Pyridoxine | 1981 |
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.
Topics: Anemia, Megaloblastic; Deoxyuridine; DNA; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Malonates; Methionine; Methylmalonic Acid; Myoclonus; Thymidine | 1980 |
Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients.
Topics: Adult; Cyanides; Cystine; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Pyridoxine | 1980 |
Are patients with homocystinuria being missed?
Topics: Child; Chromatography, High Pressure Liquid; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxal Phosphate | 1995 |
Effect of methionine and nitrous oxide on homocysteine export and remethylation in fibroblasts from cystathionine synthase-deficient, cb1G, and cb1E patients.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Biological Transport, Active; Cell Line; Culture Media; Cystathionine beta-Synthase; Fibroblasts; Homocysteine; Homocystinuria; Humans; Kinetics; Methionine; Methylation; Mutation; Nitrous Oxide | 1994 |
Redox status and protein binding of plasma homocysteine and other aminothiols in patients with homocystinuria.
Topics: Adolescent; Adult; Blood Proteins; Child, Preschool; Cysteine; Dipeptides; Female; Homocysteine; Homocystinuria; Humans; Male; Methionine; Oxidation-Reduction; Protein Binding; Regression Analysis | 1993 |
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.
Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Infant, Newborn; Isoleucine; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Paper; Sensitivity and Specificity | 1996 |
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
Topics: Adolescent; Adult; Arteriosclerosis; Blood Circulation; Carotid Stenosis; Cerebral Arterial Diseases; Coronary Artery Disease; Cystathionine beta-Synthase; Female; Femoral Artery; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Peripheral Vascular Diseases; Tunica Intima; Tunica Media | 1996 |
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Topics: Adolescent; Adult; Base Sequence; Biochemistry; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Genetic Carrier Screening; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Molecular Biology; Molecular Probes; Molecular Sequence Data; Pyridoxine | 1996 |
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
Topics: Adolescent; Adult; Cystathionine beta-Synthase; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Mutation | 1996 |
Spontaneous necrosis of the skin associated with cryofibrinogenemia, cryoglobulinemia, and homocystinuria.
Topics: Aged; Anabolic Agents; Anti-Bacterial Agents; Bacterial Infections; Cicatrix; Cryoglobulinemia; Cryoglobulins; Diagnosis, Differential; Diet; Female; Femoral Artery; Fibrinogen; Fibrinogens, Abnormal; Groin; Homocystinuria; Humans; Methionine; Necrosis; Skin Ulcer; Stanozolol | 1996 |
Newborn screening for homocystinuria.
Topics: Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Pyridoxine; Reference Values | 1997 |
Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Anemia, Megaloblastic; Brain Diseases; Homocystinuria; Humans; Male; Methionine; Vitamin B 12 | 1997 |
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Topics: Child; Cystathionine beta-Synthase; Drug Resistance; Female; Homocystinuria; Humans; Japan; Male; Methionine; Pyridoxine | 1997 |
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.
Topics: Adolescent; Homocystine; Homocystinuria; Humans; Male; Marfan Syndrome; Methionine; Pneumothorax; Pyridoxine | 1997 |
Newborn screening for homocystinuria: Irish and world experience.
Topics: Homocystinuria; Humans; Incidence; Infant, Newborn; Ireland; Methionine; Mutation; Neonatal Screening; Retrospective Studies | 1998 |
Post- and prenatal diagnostic methods for the homocystinurias.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amniotic Fluid; Chromatography; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Prenatal Diagnosis | 1998 |
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
Topics: Angelman Syndrome; Child; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Phenotype; Vitamin B 12 | 1998 |
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Cell Line; Child; Cloning, Molecular; Codon, Terminator; DNA, Complementary; Female; Fibroblasts; Frameshift Mutation; Genetic Complementation Test; Genetic Variation; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Introns; Male; Methionine; Nuclear Family; Polymorphism, Single-Stranded Conformational; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Skin; Transcription, Genetic; Vitamin B 12 | 1998 |
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
Topics: Female; Homocystinuria; Humans; Hyperhomocysteinemia; Infant, Newborn; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Time Factors; Treatment Outcome | 1999 |
Reduction of false negative results in screening of newborns for homocystinuria.
Topics: False Negative Reactions; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; New England; Reference Values; Sensitivity and Specificity | 1999 |
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Topics: Adolescent; Child; Cystathionine beta-Synthase; Escherichia coli; Female; Homocystinuria; Humans; Male; Methionine; Neonatal Screening; Nuclear Family; Pedigree; Point Mutation; Pyridoxine | 1999 |
Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk.
Topics: Adolescent; Adult; Cardiovascular Diseases; Child; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Oxidative Stress; Risk Factors; Superoxide Dismutase | 2000 |
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Aged; Amination; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Infant; Lipotropic Agents; Male; Methionine; Middle Aged; Transaminases | 2000 |
Elevated homocysteine levels in patients with Raynaud's syndrome.
Topics: Cystatin C; Cystatins; False Negative Reactions; Fasting; Glomerular Filtration Rate; Homocysteine; Homocystinuria; Humans; Methionine; Raynaud Disease; Scleroderma, Systemic | 2000 |
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Topics: Betaine; Child, Preschool; Diagnosis, Differential; Fatal Outcome; Fibroblasts; Folic Acid; Hematinics; Homocysteine; Homocystinuria; Homozygote; Humans; Infant; Intellectual Disability; Lipotropic Agents; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Treatment Outcome | 2000 |
Homocystinuria with congenital/developmental cataract.
Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Methionine; Pyridoxine | 2000 |
Maternal pyridoxine non-responsive homocystinuria: the role of dietary treatment and anticoagulation.
Topics: Adult; Anticoagulants; Female; Fibrinogen; Folic Acid; Heparin; Homocystinuria; Humans; Methionine; Pregnancy; Pregnancy Complications; Vitamin B 12 | 2001 |
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Topics: Adolescent; Adult; Aged; Cystathionine; Cystathionine beta-Synthase; DNA; Female; Genotype; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Mutation; Phenotype; Reference Values | 2001 |
Early speech delay and hepatitis as presenting signs of homocystinuria.
Topics: Child, Preschool; Diagnosis, Differential; Hepatitis; Homocystinuria; Humans; Language Development Disorders; Liver; Male; Methionine; Microscopy, Electron | 2001 |
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; Cystine; Diet; Drug Resistance; Homocystine; Homocystinuria; Humans; Infant, Newborn; Intelligence; Intelligence Tests; Methionine; Neonatal Screening; Patient Compliance; Psychometrics; Pyridoxine | 2001 |
CblC/D defect combined with haemodynamically highly relevant VSD.
Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Lactic Acid; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid | 2001 |
Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population.
Topics: Adult; Aging; Astigmatism; Child; Child, Preschool; Cystine; Disease Progression; Female; Homocystine; Homocystinuria; Humans; Infant; Lens Subluxation; Male; Methionine; Myopia; Time Factors; Visual Acuity; Vitamin B 6 | 2001 |
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Topics: Betaine; Brain Edema; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Methionine; Treatment Refusal | 2002 |
Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients.
Topics: Betaine; Child; Child, Preschool; Combined Modality Therapy; Consanguinity; Drug Monitoring; Drug Therapy, Combination; Female; Folic Acid; Homocystinuria; Humans; Infant; Male; Methionine; Pedigree; Pyridoxine; Saudi Arabia; Treatment Outcome | 1999 |
Inhibition of Na+, K+-ATPase activity by the metabolites accumulating in homocystinuria.
Topics: Animals; Enzyme Inhibitors; Hippocampus; Homocysteine; Homocystinuria; Methionine; Neurons; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Subcellular Fractions; Synaptic Membranes | 2002 |
Effect of induced elevated plasma levels of homocystine and methionine in rats on collagen and elastin structures.
Topics: Animals; Collagen; Connective Tissue; Disease Models, Animal; Elastin; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Peptides; Rats; Solubility | 1976 |
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2].
Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases | 1976 |
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 |
[Growth disorders. Classification, diagnosis, therapy. 3. Excessive growth: constitutional tallness, endocrine tallness, chromosome abnormalities, tallness with unusual proportions, tallness in metabolic diseases].
Topics: Adult; Child; Chromosome Aberrations; Chromosome Disorders; Endocrine System Diseases; Growth Disorders; Homocystinuria; Humans; Marfan Syndrome; Methionine; Obesity; Puberty, Precocious | 1979 |
Homocystinuria--response to pyridoxine therapy.
Topics: Adolescent; Child; Ectopia Lentis; Female; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Pyridoxine | 1979 |
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 |
[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 |
The pathogenesis of coronary artery disease. A possible role for methionine metabolism.
Topics: Coronary Disease; Cystine; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged | 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 |
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
Topics: Adolescent; Alcohol Oxidoreductases; Diagnosis, Differential; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Schizophrenia; Tetrahydrofolates; Vitamin B 12 | 1975 |
Editorial: Metabolic hypotheses in schizophrenia.
Topics: Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Psychotic Disorders; Schizophrenia | 1975 |
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
Topics: Adolescent; Adult; Amino Acids; Child; Cystathionine; Cystine; Diet; Female; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Nitrogen; Pyridoxine; Sulfur | 1975 |
Amino acids and collagen-induced platelet aggregation. Lack of effect of three amino acids that are elevated in homocystinuria.
Topics: Collagen; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Aggregation; Thrombosis | 1975 |
[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 |
Homocystinuria presenting as sagittal sinus thrombosis.
Topics: Adolescent; Brain; Cystathionine beta-Synthase; Homocystine; Homocystinuria; Humans; Magnetic Resonance Imaging; Male; Methionine; Neurologic Examination; Sinus Thrombosis, Intracranial; Tomography, X-Ray Computed | 1992 |
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
Topics: Animals; Carbon-Oxygen Lyases; Homocystinuria; In Vitro Techniques; Liver; Lyases; Methionine; Rats | 1991 |
Plasma homocysteine in venous thromboembolism.
Topics: Adult; Creatinine; Cystathionine beta-Synthase; Fasting; Female; Folic Acid; Genetic Carrier Screening; Genotype; Homocysteine; Homocystinuria; Humans; Male; Methionine; Thromboembolism; Vitamin B 12 | 1991 |
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 |
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Betaine; Female; Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases | 1989 |
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Topics: Adolescent; Adult; Cystathionine beta-Synthase; Fasting; Female; Homocystinuria; Humans; Hydro-Lyases; Kinetics; Male; Methionine; Methionine Adenosyltransferase; Middle Aged; Pyridoxine | 1989 |
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Topics: Adult; Betaine; Blood Proteins; Cystathionine beta-Synthase; Cysteine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Kinetics; Male; Methionine; Protein Binding | 1989 |
[Effects of gene localization and its metabolic significance in trisomy 21].
Topics: Chromosome Mapping; Chromosomes, Human, 21-22 and Y; Cystathionine; Cystathionine beta-Synthase; Down Syndrome; Fibroblasts; Homocysteine; Homocystinuria; Humans; Methionine | 1985 |
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Macrocytic; Anemia, Megaloblastic; Cells, Cultured; Fibroblasts; Genetic Complementation Test; Homocystinuria; Humans; Methionine; Mutation; Vitamin B 12; Vitamin B 12 Deficiency | 1988 |
Newborn screening for homocystinuria.
Topics: Homocystinuria; Humans; Infant, Newborn; Mass Screening; Methionine; New Zealand | 1986 |
Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
Topics: Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Infant; Male; Methionine | 1987 |
[Results of diet treatment of a new case of homocystinuria diagnosed late].
Topics: Child, Preschool; Follow-Up Studies; Homocystinuria; Humans; Male; Methionine; Time Factors | 1986 |
Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Cells, Cultured; Fibroblasts; Homocysteine; Homocystinuria; Humans; Infant; Male; Methionine; Vitamin B 12; Vitamin B 12 Deficiency | 1987 |
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Clinical Enzyme Tests; Cystathionine beta-Synthase; Female; Fertility; Follow-Up Studies; Genetic Testing; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Lens Subluxation; Male; Methionine; Osteoporosis; Pregnancy; Pregnancy Complications; Pyridoxine; Seizures; Surveys and Questionnaires; Thromboembolism | 1985 |
Folic acid responsive rages, seizures and homocystinuria.
Topics: Anger; Child Behavior Disorders; Female; Folic Acid; Homocystinuria; Humans; Male; Methionine; Rage; Seizures | 1985 |
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Topics: Adolescent; Adult; Betaine; Child; Cystathionine beta-Synthase; Cysteine; Drug Therapy, Combination; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Middle Aged; Pyridoxine; Serine | 1985 |
Heterozygosity for homocystinuria in premature arterial disease.
Topics: Adult; Arterial Occlusive Diseases; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Menopause; Methionine; Middle Aged | 1986 |
Homocystinuria and schizophrenia. Literature review and case report.
Topics: Adult; Animals; Chronic Disease; Female; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Mice; Rats; Schizophrenia | 1985 |
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Topics: Adolescent; Adult; Cells, Cultured; Clinical Enzyme Tests; Cystathionine beta-Synthase; Fasting; Female; Fibroblasts; Genetic Carrier Screening; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Middle Aged | 1985 |
[A case of homocystinuria missed by the newborn screening].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnostic Errors; Homocystinuria; Humans; Infant; Male; Methionine | 1985 |
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Topics: Adult; Arterial Occlusive Diseases; Cerebrovascular Disorders; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Menopause; Methionine; Middle Aged; Risk; Sex Factors | 1985 |
Determination of homocysteine in urine.
Topics: Animals; Chromatography, High Pressure Liquid; Estradiol Congeners; Female; Homocystinuria; Humans; Methionine; Progesterone Congeners; Rats; Rats, Inbred Strains | 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 |
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 |
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids.
Topics: Alanine; Amino Acids, Sulfur; Cystinuria; Disulfides; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Pyridoxine | 1974 |
[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 |
Adult homocystinuria with ectopia lentis.
Topics: Adult; Aged; Amino Acids; Blood Platelets; Cell Aggregation; Chromatography, Ion Exchange; Eye Diseases; Female; Homocystine; Homocystinuria; Humans; Intelligence Tests; Lens, Crystalline; Male; Methionine; Middle Aged; MMPI; Pedigree; Visual Acuity | 1971 |
The effect of pyridoxine on platelet adhesiveness in homocystinuria.
Topics: Adolescent; Adult; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Adhesiveness; Pyridoxine | 1974 |
Somatomedin (sulphation factor)-like activity of homocystine.
Topics: Animals; Cartilage; Cystathionine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Male; Methionine; Rats; Ribs; Serum Albumin, Bovine; Somatomedins; Sulfatases; Sulfates; Sulfur Isotopes | 1972 |
Homocystinuria. Reduced folate levels during pyridoxine treatment.
Topics: Child; Child, Preschool; Cystine; Erythrocytes; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Male; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine | 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 |
[Homocystinuria: clinical picture, therapy and results in 8 patients].
Topics: Body Weight; Child; Child, Preschool; Cystine; Dietary Proteins; Female; Hair; Homocystine; Homocystinuria; Humans; Infant; Intellectual Disability; Methionine; Pyridoxine | 1973 |
Homocystinuria: studies in tissue culture.
Topics: Culture Techniques; Fibroblasts; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Methyltransferases; Oxidoreductases; Parents; Proteins; Pyridoxal Phosphate; Pyridoxine; Serine; Skin; Stimulation, Chemical; Tetrahydrofolates | 1973 |
Pregnancy and homocystinuria.
Topics: Adult; Amnion; Blood Coagulation Tests; Cell Line; Cystine; Female; Fibroblasts; Folic Acid; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Methionine; Pregnancy; Pregnancy Complications; Pyridoxine; Vitamin B 12 | 1973 |
A collagen defect in homocystinuria.
Topics: Adult; Aldehydes; Amino Acids; Biopsy; Borohydrides; Child; Collagen; Dialysis; Histidine; Homocysteine; Homocystine; Homocystinuria; Humans; Hydrolysis; Hydroxylysine; Methionine; Microscopy, Electron; Norleucine; Skin; Sodium; Solubility; Temperature; Time Factors; Tritium | 1973 |
[Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].
Topics: Germany, East; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias | 1973 |
Plasma insulin content and glucose tolerance in homocystinuria.
Topics: Adolescent; Adult; Child; Chromatography, Ion Exchange; Female; Glucose Tolerance Test; Homocystinuria; Humans; Hyperinsulinism; Insulin; Male; Methionine; Radioimmunoassay | 1973 |
[Homocystinuria].
Topics: Consanguinity; Female; Glaucoma; Homocystinuria; Humans; Lens, Crystalline; Metabolism, Inborn Errors; Methionine | 1973 |
The role of homocystinuria in the etiopathogenesis of children's mental deficiency.
Topics: Adolescent; Age Factors; Amino Acids; Child, Preschool; False Positive Reactions; Homocystine; Homocystinuria; Humans; Intellectual Disability; Methionine; Methods; Vision Disorders | 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 |
Investigations of coagulation and fibrinolysis in homocystinuria.
Topics: Adult; Blood Coagulation; Cystine; Diet; Factor V; Female; Fibrinogen; Fibrinolysis; Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Platelet Adhesiveness; Pyridoxine | 1974 |
Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.
Topics: Amino Acids, Sulfur; Chromatography, Ion Exchange; Cysteine; Cystine; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Time Factors | 1974 |
[Mass screening of phenylketonuria. Report on a screening center (October 1967-December 1968)].
Topics: Adolescent; Adult; Amino Acids; Bacteriological Techniques; Child; Child, Preschool; Chromatography, Paper; Fluorometry; France; Homocystinuria; Humans; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Sampling Studies; Tyrosine | 1969 |
[Determination acid and a specific inhibitor].
Topics: Bacillus subtilis; Biological Assay; Culture Media; Homocystinuria; Humans; Methionine; Methionine Sulfoximine; Methods | 1970 |
[A case of homocystinuria].
Topics: Adult; Chromatography, Paper; Chromatography, Thin Layer; Female; Homocystine; Homocystinuria; Humans; 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 |
[Amino acid metabolism and mental retardation].
Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionine; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxine | 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 |
[Homocystinuria and Marfan's syndrome].
Topics: Adolescent; Adult; Cervical Vertebrae; Child; Female; Growth Disorders; Homocystinuria; Humans; Intellectual Disability; Lens, Crystalline; Male; Marfan Syndrome; Methionine; Osteoporosis; Pedigree; Spine | 1972 |
Studies of the mechanism of pyridoxine-responsive homocystinuria.
Topics: Adolescent; Cells, Cultured; Cystine; Cystinuria; Fibroblasts; Homocystine; Homocystinuria; Humans; In Vitro Techniques; L-Serine Dehydratase; Male; Methionine; Pyridoxine; Skin | 1972 |
Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.
Topics: Adolescent; Carbon Isotopes; Coenzymes; Female; Fibroblasts; Folic Acid; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Methylation; Methyltransferases; Oxidoreductases; Vitamin B 12 | 1972 |
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance.
Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine; Tetrahydrofolates; Transferases; Vitamin B 12 | 1972 |
Combined vitamin responsiveness in homocystinuria.
Topics: Adolescent; Adult; Amino Acids; Child; Drug Synergism; Female; Folic Acid; Folic Acid Deficiency; Glycine; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Metabolic Diseases; Methionine; Methylation; Pyridoxine; Vitamin B 12 | 1972 |
Excretion of S-adenosylmethionine and S-adenosylhomocysteine in homocystinuria.
Topics: Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Nucleosides | 1971 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 1971 |
The detection of heterozygotes for homocystinuria by oral loading with L-methionine.
Topics: Administration, Oral; Adult; Cysteine; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine | 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 |
Incorporation of methionine sulphur into cysteine in vitro by fibroblasts deficient in cystathionine synthetase.
Topics: Cysteine; Fibroblasts; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Lyases; Methionine | 1969 |
Aminoaciduria in a homocystinuric family.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Cystinuria; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Methionine; Sulfoxides | 1969 |
[Radiologic study of the osseous symptoms of homocystinuria. (6 cases)].
Topics: Adolescent; Bone and Bones; Bone Diseases; Child; Child, Preschool; Diet Therapy; Epiphyses; Female; Homocystinuria; Humans; Infant; Male; Methionine; Osteoporosis; Radiography; Scoliosis; Skull; Spine; Thrombosis | 1969 |
[Clinical and biochemical aspects of homocystinuria].
Topics: Age Factors; Amino Acids; Brain Chemistry; Child; Child, Preschool; Cystine; Diet Therapy; Female; Genes, Recessive; Homocystine; Homocystinuria; Humans; Male; Methionine; Thromboembolism | 1969 |
An unusual case of homocystinuria.
Topics: Child; Eye Manifestations; Homocystinuria; Humans; Joint Diseases; Knee Joint; Lens, Crystalline; Male; Methionine; Optic Atrophy; Pyridoxine | 1970 |
Recent clinical advances in the treatment of neurological diseases.
Topics: Brain Diseases; Child, Preschool; Chronic Disease; Cystine; Diet Therapy; Dopamine; Folic Acid; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Movement Disorders; Muscular Diseases; Pyridoxine; Serotonin | 1970 |
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Topics: Adult; Aldehydes; Autoanalysis; Carbon Isotopes; Chromatography; Cysteine; Diet; Diet Therapy; Enzyme Activation; Female; Fibroblasts; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Keto Acids; L-Serine Dehydratase; Liver; Male; Methionine; Pyridoxal Phosphate; Pyridoxine; Serine; Sulfates; Trypsin | 1970 |
Homocystinuria. Response to pyridoxine.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Ion Exchange; Electroencephalography; Female; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Psychological Tests; Pyridoxine | 1970 |
[Abortive form of homocystinuria].
Topics: Adolescent; Child, Preschool; Chromatography; Chromatography, Paper; Diagnosis, Differential; Eye Diseases; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Methionine; Myopia; Vitreous Body | 1970 |
Pyridoxine-unresponsive homocystinuria.
Topics: Adult; Autopsy; Carotid Arteries; Child; Child, Preschool; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Pedigree; Pyridoxine | 1970 |
[Pepper type neuroblastoma with homocystinuria. Diagnosis, biochemistry and therapy].
Topics: Amino Acids; Catecholamines; Child, Preschool; Cyclophosphamide; Dopamine; Homocystinuria; Humans; Liver Neoplasms; Male; Methionine; Neoplasm Metastasis; Neuroblastoma; Norepinephrine; Normetanephrine; Phenylacetates; Pyridoxine; Serine; Stereoisomerism; Vanilmandelic Acid; Vincristine | 1970 |
[Experiences with a new amino acid analyzer for a rapid analysis].
Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Homocystinuria with methylmalonic aciduria: two cases in a sibship.
Topics: Adolescent; Carbon Isotopes; Child, Preschool; Coenzyme A; Female; Fibroblasts; Folic Acid; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Isomerases; L-Serine Dehydratase; Male; Malonates; Methionine; Methyltransferases; Pedigree; Propionates; Skin; Vitamin B 12 | 1970 |
Feeding chicks high levels of L-methionine-supplemented diets in the study of the experimental aspects of homocystinuria.
Topics: Animals; Chickens; Cystine; Diet; Growth; Homocystinuria; Humans; Joints; Male; Methionine | 1970 |
Soybean milk.
Topics: Adult; Amino Acids; Animals; Arteriosclerosis; Child; Cooking; Cystinosis; Diet Therapy; Dietary Proteins; Glycine max; Homocystinuria; Humans; Methionine; Milk | 1970 |
A case of homocystinuria with a dystonic neurological syndrome.
Topics: Adolescent; Cystine; Extrapyramidal Tracts; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Movement Disorders; Muscle Tonus; Muscular Diseases; Prognosis; Pyridoxine; Taurine | 1970 |
Homocystinuria in three Indian children.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; Female; Homocystinuria; Humans; Intellectual Disability; Male; Methionine | 1971 |
[Defects in the metabolism of methionine: methioninemia, homocystinurie, homoserinuria and cystinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Cystinuria; Homocystinuria; Humans; Intellectual Disability; Methionine | 1967 |
Identification and measurement of cysteine-homocysteine mixed disulfide in plasma.
Topics: Amino Acids; Chromatography, Ion Exchange; Cysteine; Cystine; Cystinosis; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Sulfides | 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 |
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 |
Some aspects of the diagnosis and treatment of homocystinuria.
Topics: Child; Child, Preschool; Diet Therapy; Female; Homocystine; Homocystinuria; Humans; Male; Methionine | 1968 |
Methionine malabsorption syndrome.
Topics: Amino Acids; Diarrhea; Diet Therapy; Feces; Female; Homocystinuria; Humans; Hydroxybutyrates; Intellectual Disability; Malabsorption Syndromes; Male; Methionine; Pedigree; Seizures | 1968 |
Low methionine diet treatment of homocystinuria.
Topics: Diet Therapy; Homocystinuria; Humans; Methionine | 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 |
Psychiatric and biochemical aspects of a case of homocystinuria.
Topics: Adult; Cystine; Female; Homocystinuria; Humans; Male; Mental Disorders; Methionine; Middle Aged; Pedigree; Psychological Tests; Pyridoxine | 1969 |
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1969 |
Treatment of homocystinuria with pyridoxine. A preliminary study.
Topics: Adolescent; Adult; Aminobutyrates; Child; Child, Preschool; Cystine; Female; Folic Acid; Folic Acid Deficiency; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Infant; L-Serine Dehydratase; Male; Methionine; Pyridoxine | 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 |
The successful treatment of homocystinuria with pyridoxine.
Topics: Adolescent; Adult; Amino Acids; Blood Platelets; Child; Child, Preschool; Erythrocytes; Female; Hair; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine; Urine | 1969 |
Therapeutic problems of adolescent homocystinuria.
Topics: Child; Diet Therapy; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Thromboembolism | 1969 |
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 |
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 |
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 |