homocysteine has been researched along with CBS Deficiency in 343 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 67 (19.53) | 18.7374 |
| 1990's | 76 (22.16) | 18.2507 |
| 2000's | 98 (28.57) | 29.6817 |
| 2010's | 73 (21.28) | 24.3611 |
| 2020's | 29 (8.45) | 2.80 |
| Authors | Studies |
|---|---|
| Arion, A; Benoist, JF; Bueno, M; Chapman, KA; Chien, YH; Damaj, L; Gleich, F; Huemer, M; Imbard, A; Janssen, MCH; Ješina, P; Kölker, S; Kožich, V; Lavigne, C; Leroux, S; Lund, AM; Mochel, F; Moreau, C; Morris, A; Nassogne, MC; Pons, MR; Porras-Hurtado, GL; Schiff, M; Szymanowski, M; Tardieu, M; Touati, G; Yverneau, M | 1 |
| 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 |
| Cruciani-Guglielmacci, C; Daubigney, F; Denis, RG; Denom, J; Georgiadou, E; Janel, N; Kassis, N; Le Stunff, H; Magnan, C; Makaci, F; Meneyrol, K; Migrenne-Li, S; Paul, JL; Rachdi, L; Rodriguez Sanchez-Archidona, A; Rutter, GA; Thorens, B | 1 |
| Gambello, MJ; Gonzalez, A; Kožich, V; Li, H; Smith, GH; Sokolová, J | 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 |
| Courtney, E; Cuthbert, C; Isenberg, SL; Petritis, K; Pickens, CA | 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 |
| Averdunk, L; Distelmaier, F; Haack, TB; Klee, D; Thimm, E | 1 |
| Cui, J; Cui, X; Wang, L; Wang, Y; Zhang, H; Zheng, H | 1 |
| Ito, Y; Nishikubo, T; Nishimoto, E; Sakakibara, T | 1 |
| Hayashi, M; Inagaki, J; Inagaki, K; Okajima, T; Okawa, A; Tamura, T | 1 |
| Evans, KA; Glavin, F; Irwin, DE; Lapidus, D; Palmer, L; Sellos-Moura, M | 1 |
| Evans, K; Glavin, F; Irwin, DE; Lapidus, D; Lew, CR; Sellos-Moura, M | 1 |
| Chaudhry, SH; Gaudet, LM; MacFarlane, AJ; Rennicks White, R; Rodger, M; Smith, GN; Taljaard, M; Walker, MC; Wen, SW | 1 |
| Braconnier, A; Desmons, A; Garnotel, R; Gillery, P; Jaisson, S; Rieu, P; Wynckel, A | 1 |
| Abato, JE; Cron, GO; Jadavji, NM; Moftah, M; Smith, PD | 1 |
| Correa, ARE; Gupta, N; Kabra, M; Kaur, R; Thakur, S | 1 |
| Asamoah, A; De Biase, I; Gherasim, C; La'ulu, SL; Longo, N; Yuzyuk, T | 1 |
| Graban, A; Jakubowski, H; Kubalska, J; Perła-Kaján, J; Utyro, O | 1 |
| Castro-Martínez, F; Flores-Flores, M; Moreno-García, L; Nahmad, M | 1 |
| Bublil, EM; Glavin, F; Majtan, T; Park, I | 1 |
| Kožich, V; Stabler, S | 1 |
| Bing, Q; Chang, KJ; Guo, X; Hu, J; Li, N; Shen, HR; Zhao, Z | 1 |
| Huemer, M | 1 |
| Bouvier, D; Brailova, M; Minet-Quinard, R; Regnier, A; Sapin, V; Szymanowski, M | 1 |
| Berry, SA; Kerkvliet, SP; Rheault, MN | 1 |
| Jiang, H; Maclean, KN; Mclagan, BM; Phinney, WN; Roede, JR; Stabler, SP | 1 |
| Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H | 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 |
| Baumgartner, MR; Forny, M; Froese, DS; Grimm, C; Kiessling, E; Kožich, V; Krijt, J; Nötzli, S; Samardzija, M; Todorova, V | 1 |
| Bublil, EM; Carrillo, RS; Kraus, JP; Majtan, T; Park, I | 1 |
| Kruger, WD | 1 |
| Habib, A; Khan, MS; Yaqub, MA | 1 |
| Auff, E; Baumgartner, M; Födinger, M; Fowler, B; Konstantopoulou, V; Möslinger, D; Rommer, PS; Stögmann, E; Suess, E; Sunder-Plassmann, G; Zschocke, J | 1 |
| Camargo, EC; Huang, SY; Karaa, A; Rosenbaum, MW | 1 |
| Asif, N; Awan, A; Fatima, S; Hafeez, A; Ijaz, A; Sajid, A | 1 |
| Huse, K; Olecka, M; Platzer, M | 1 |
| Marumo, K; Saito, M | 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 |
| Aldamiz-Echevarria, L; Brunet, D; Cano, A; Cathebras, P; Couce, ML; Dalmau, J; Damaj, L; Dobbelaere, D; Eyer, D; García-Cazorla, A; Gay, C; Guffon, N; Hiéronimus, S; Levrat, V; Maillot, F; Martinez-Pardo Casanova, M; Nadjar, Y; Peña-Quintana, L; Rigalleau, V; Schiff, M; Touati, G; Valayannopoulos, V | 1 |
| Christians, U; Cowan, TM; Creadon-Swindell, G; Emmett, P; Ficicioglu, C; Freehauf, CL; Friederich, MW; Harrington, MJ; Henthorn, TK; Hite, M; Jiang, H; Kronquist, KE; MacLean, KN; Moreau, KL; Pena, LDM; Pyle, L; Spector, EB; Stabler, SP; Thomas, JA; Van Hove, JLK; Wempe, MF; Young, SP | 1 |
| Aloui, M; Baara, A; Ben Fradj, MK; Ben Halima, M; Ben Jemaa, N; Ben Wafi, S; Boulares, M; Feki, M; Gaigi, SS; Jemaa, R; Kallel, A; Lassoued, M; Mahjoubi, I; Marrakchi, R; Midani, F; Nasri, K; Omar, S; Soussi, M | 1 |
| Al-Dewik, N; Ben-Omran, T; Blom, HJ; Gallego-Villar, L; Gupta, S; Häberle, J; Kruger, WD; Lee, HO; Nasrallah, G; Thöny, B; Wang, L | 1 |
| Bertini, E; Boenzi, S; Di Giovamberardino, G; Dionisi-Vici, C; Martinelli, D; Pastore, A; Petrillo, S; Piemonte, F; Tozzi, G | 1 |
| Sridhar, J; Venincasa, VD | 1 |
| Ghosh, PK; Kaur, L; Mukhopadhhyay, R; Puri, M; Sachdeva, MP; Saraswathy, KN; Trivedi, SS; Walia, GK | 1 |
| De Geest, B; Gordts, SC; Jacobs, F; Muthuramu, I; Singh, N | 1 |
| Barski, R; Luvai, A; Narayanan, D; Sharma, R | 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 |
| Graban, A; Jakubowski, H; Kubalska, J; Marczak, Ł; Sikora, M | 1 |
| Cole, EF; Rahman, T | 1 |
| Ishii, I | 1 |
| Blom, HJ; Castro, R; Davids, M; Esse, R; Florindo, C; Gupta, S; Imbard, A; Kruger, WD; Quinlivan, EP; Tavares de Almeida, I; Teerlink, T | 1 |
| Biancini, GB; Deon, M; Manfredini, V; Marinho, AE; Ribas, GS; Vanzin, CS; Vargas, CR; Wajner, M; Wyse, AT | 1 |
| Darteyre, S; Fichtner, C; Gay, C; Ged, C; Saboul, C; Stephan, JL | 1 |
| Kagawa, K; Nakatani, K; Osaka, H; Sasaki, R; Tamura, A; Tomimoto, H | 1 |
| Bahous, RH; Bedell, BJ; Caudill, MA; Deng, L; Grand'maison, M; Jadavji, NM; Malysheva, O; Rozen, R | 1 |
| Bandeira, IC; Blom, HJ; Castro, K; D'Almeida, V; de Souza, CF; Imbard, A; Leistner-Segal, S; Nalin, T; Poloni, S; Schwartz, IV; Spritzer, PM; Tonon, T | 1 |
| Ikeda, R; Kawakami, S; Kuroda, N; Kuroki, M; Minami, Y; Nakashima, K; Sekitani, Y; Takamura, N; Wada, M | 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 |
| McCully, KS | 5 |
| 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 |
| Caudill, MA; Deng, L; Jadavji, NM; Malysheva, O; Rozen, R | 1 |
| Kong, X; Liu, N; Zhao, Z; Zong, Y | 1 |
| Benoist, JF; Blom, HJ; de Baulny, HO; de Vriese, AS; Esse, R; Gupta, S; Imbard, A; Kruger, W; Lebon, S; Schiff, M | 1 |
| Brodsky, JL; Coughlin, C; Ficicioglu, C; Freehauf, CL; Kaplan, P; Levine, MA; Lindstrom, K; Weber, DR | 1 |
| Allen, RH; Gaustadnes, M; Hvas, AM; Mudd, SH; Stabler, SP; Sørensen, JT | 1 |
| Harding, CO; Karr, DJ; Ku, CA; Ng, JK; Pennesi, ME; Reznick, L; Weleber, RG | 1 |
| Andrews, AJ; Gupta, S; Kruger, WD; Kuo, YM; Lee, HO; Li, YS; Slifker, MJ; Wang, L | 1 |
| Jakubowski, H; Malinowska, A; Perła-Kajan, J; Rusek, M; Sitkiewicz, E; Utyro, O | 1 |
| 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 |
| Chen, TC; Lin, AE; Sweetser, DA; Troulis, MJ; Westra, SJ | 1 |
| Kumar, M; Lominadze, D; Moshal, KS; Pushpakumar, SB; Sen, U; Tyagi, N; Tyagi, SC; Vacek, T | 1 |
| Berry, SA; Bishop, L; Charnas, L; Kanoff, R; Krenzel, C; Schimmenti, LA | 1 |
| Boers, GH; Jakubowski, H; Strauss, KA | 1 |
| Ito, T; Ohkubo, Y; Sugiyama, N; Sumi, S; Togari, H; Ueta, A; Yokoi, K | 1 |
| Aguirre Errasti, C; Egurbide Arberas, MV; Martínez Berriotxoa, A | 1 |
| Jakubowski, H; Perla-Kaján, J | 1 |
| Cirulis, JT; Hubmacher, D; Keeley, FW; Miao, M; Reinhardt, DP | 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 |
| Woodside, JV; Young, IS | 1 |
| Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ | 1 |
| Francis, JH; Rao, L; Rosen, RB | 1 |
| Blumkin, E; Galron, D; Golan, HM; Levav-Rabkin, T | 1 |
| Gao, X; Gu, X; Han, L; Qiu, W; Wang, F; Wang, Y; Yang, Y; Ye, J; Zhang, H; Zhang, Y | 1 |
| Antonakos, G; Armaganidis, A; Bagos, P; Dima, K; Dimopoulou, I; Kapsimali, V; Kopterides, P; Nikolopoulos, G; Travlou, A; Tsangaris, I; Tsantes, A; Vrioni, G | 1 |
| Beard, RS; Bearden, SE | 1 |
| Dietzen, DJ; Oladipo, O; Shinawi, M; Spreitsma, L | 1 |
| da Cunha, AA; Ferreira, AG; Machado, FR; Mussulini, BH; Tagliari, B; Wofchuk, S; Wyse, AT | 1 |
| Akahoshi, N; Hishiki, T; Ikeda, K; Ishii, I; Kubo, A; Matsuura, T; Miura, N; Nagahata, Y; Suematsu, M; Taguchi, R; Yamada, H | 1 |
| Asteggiano, CG; Balcells, S; Cozar, M; Dalmau, J; Dodelson de Kremer, R; García, AM; Grinberg, D; Grosso, C; Urreizti, R; Vilarinho, L; Vilaseca, MA | 1 |
| Carrillo-Carrasco, N; Venditti, CP | 1 |
| Stanger, O; Wonisch, W | 1 |
| Allen, RH; Greiner, LS; Jiang, H; Maclean, KN; Stabler, SP | 1 |
| Mikael, LG; Pancer, J; Rozen, R; Wu, Q | 1 |
| Hsia, CY; Lin, NC; Liu, CS; Loong, CC; Niu, DM; Tsai, HL; Tsou, MY; Yeh, YC | 1 |
| Blom, HJ; Castro, R; Jakobs, C; Janssen, MC; Kluijtmans, LA; Rivera, I; Rocha, MS; Smulders, Y; Tavares de Almeida, I; Teerlink, T | 1 |
| Bedell, BJ; Caudill, MA; Deng, L; Jadavji, NM; Leclerc, D; Malysheva, O; Rozen, R | 1 |
| Allen, RH; Jiang, H; Maclean, KN; Stabler, SP | 1 |
| Desviat, LR; Pérez, B; Richard, E; Ugarte, M | 1 |
| D'Almeida, V; Poloni, S; Schwartz, IV; Schweigert Perry, ID | 1 |
| Caudill, M; Jiang, X; Mikael, LG; Pancer, J; Rozen, R; Wu, Q | 1 |
| Ali, FM; Asghar, A | 1 |
| Burlina, AB; Burlina, AP; Edini, C | 1 |
| Bonham, JR; Chakrapani, A; Johnson, TN; Matthews, A; Moat, SJ; Rostami-Hodjegan, A; Tucker, GT; Wraith, JE | 1 |
| Briddon, A; Hargreaves, IP; Lee, PJ | 1 |
| Accinni, R; Bartesaghi, S; Campolo, J; Caruso, R; De Maria, R; Galluzzo, C; Maiorana, A; Melotti, D; Parodi, O; Parolini, M | 1 |
| Fowler, B; Kozich, V; Pristoupilová, K; Suormala, T; Zavad'áková, P; Zavadakova, P; Zeman, J | 1 |
| Bernardino, L; Brito, AP; Fonseca, N; Inês, L; Santos, J; Silvestre, I; Vidal, N | 1 |
| Favier, A; Galan, P; Guilland, JC; Hercberg, S; Potier de Courcy, G | 1 |
| Delwing, D; Matté, C; Streck, EL; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Sakamoto, A; Sakura, N | 1 |
| CARSON, NA; CUSWORTH, DC; DENT, CE; FIELD, CM; NEILL, DW; WESTALL, RG | 1 |
| BRAY, C; DAVIES, B; FIELD, C; LOVE, F; MCDONALD, L | 1 |
| BRENTON, DP; CUSWORTH, DC; GAULL, GE | 2 |
| WRIGHT, LD | 1 |
| De Santo, NG; Ingrosso, D; Perna, AF | 1 |
| Febriani, AD; Kubota, M; Ono, H; Sakamoto, A; Sakura, N; Ueda, K; Yanagawa, J; Yoshii, C | 1 |
| Chen, Z; Garrow, T; James, SJ; Laryea, MD; Melnyk, S; Pogribny, I; Rozen, R; Schwahn, BC | 1 |
| Bavaresco, CS; Calcagnotto, T; Matté, C; Monteiro, SC; Netto, CA; Wyse, AT | 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 |
| Bar-Or, D; Bar-Or, R; Craun, M; Curtis, CG; Kraus, JP; Maclean, KN; Rael, LT; Sullivan, A; Thomas, GW | 1 |
| Barton, A; Bowron, A; Scott, J; Stansbie, D | 1 |
| Aplin, RT; Boers, GH; Handford, PA; Hutchinson, S; Kettle, S; Timmermans, J; Webb, H | 1 |
| Fowler, B; Gutsche, S; Hennermann, JB; Horneff, G; Kozich, V; Mueller, P; Novotna, Z; Suormala, T; Vilarinho, L; Vilaseca, MA; Wilichowski, E; Zavadáková, P; Zeman, J | 1 |
| Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C | 1 |
| Bourdon, E; Delabar, JM; Delcayre, C; Friguet, B; Janel, N; Nehmé, J; Pivert, G; Robert, K | 1 |
| Misita, CP; Moll, S; Sturm, AC; Varga, EA | 1 |
| Franzon, R; Stefanello, FM; Tagliari, B; Wajner, M; Wannmacher, C; Wyse, AT | 1 |
| Chen, X; Hua, X; Klein-Szanto, A; Kruger, WD; Tang, B; Wang, L | 1 |
| Almeida, VD; da Rocha, JC; Galdieri, LC; Martins, AM; Micheletti, C; Pereira, VG; Perez, AB; Porto, MP; Vergani, N | 1 |
| McDowell, IF; Moat, SJ | 1 |
| Dauzat, M; Gris, JC; Quéré, I | 1 |
| Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK | 1 |
| Bartels, R; Bätge, B; Brinckmann, J; Hubmacher, D; Notbohm, H; Reinhardt, DP; Tiedemann, K; Vollbrandt, T | 1 |
| Enokido, Y; Iwasawa, K; Kimura, H; Namekata, K; Okazawa, H; Suzuki, E | 1 |
| Eskes, TK | 1 |
| Scott, PM | 1 |
| Herrmann, M; Herrmann, W; Widmann, T | 1 |
| Alscher, DM; Benzinger, P | 1 |
| Banerjee, R; Schellhorn, D; Sen, S; Yamanishi, M; Yu, J | 1 |
| Snyderman, SE | 1 |
| Lawson-Yuen, A; Levy, HL | 1 |
| Green, K; Sim, AS; Wang, J; Wilcken, B; Wilcken, DE | 1 |
| Chen, X; Fazlieva, R; Kruger, WD; Wang, L | 1 |
| Bakogiannis, C; Kalimeris, K; Schulpis, KH; Tsakiris, S; Tsakiris, T | 1 |
| Cattaneo, M | 2 |
| Delabar, JM; Demuth, K; Hamelet, J; Janel, N; Paul, JL | 1 |
| Guldener, CV; Stehouwer, CDA | 1 |
| Netto, CA; Salbego, CG; Tagliari, B; Wyse, AT; Zamin, LL | 1 |
| Law, M; Morris, JK; Wald, DS; Wald, NJ | 1 |
| Hasegawa, Y; Jiang, Y; Qin, J; Song, J; Sun, F; Wu, X; Yamaguchi, S; Yang, Y; Zhang, Y | 1 |
| Jung, SC; Kruger, WD; Lee, JS; Oh, HJ; Park, ES | 1 |
| Blom, HJ; Boers, GH; Heil, SG; Riksen, NP; Smulders, Y | 1 |
| Benevenga, NJ | 1 |
| Bendini, MG; Cozzari, L; De Cristofaro, R; Farina, SM; Giordano, A; Giordano, G; Lanza, GA; Leggio, M; Mazza, A; Menichini, G; Moriconi, E | 1 |
| Atanassova, PA | 1 |
| Alberto, JM; Blaise, S; Bronowicki, JP; Delabar, JM; Guéant, JL; Hamelet, J; Janel, N; Noll, C | 1 |
| Enokido, Y | 1 |
| Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ | 1 |
| Cohen Aubart, F; Papo, T; Sedel, F | 1 |
| Hansen, S; MacDougall, L; Perry, TL; Warrington, PD | 1 |
| Boers, GH; de Groot, PG; Gonsalves, MD; van Aken, WG; van Mourik, JA; Willems, C | 1 |
| Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ | 1 |
| Gupta, VJ; Reddy, SG; Wilcken, DE | 1 |
| Dudman, NP; Wilcken, DE | 1 |
| Dudman, NP; Tyrrell, PA; Wilcken, B; Wilcken, DE | 1 |
| Benevenga, NJ; Smolin, LA | 1 |
| Reddy, GS; Wilcken, DE | 1 |
| Curley, K; Kang, SS; Wong, PW | 1 |
| Fowler, B | 1 |
| Gaull, GE; Malloy, MH; Rassin, DK | 1 |
| Feinleib, M; Havlik, R; Levy, HL; McKusick, VA; Mudd, SH | 1 |
| Bedros, AA; Carmel, R; Goodman, SI; Mace, JW | 1 |
| Berry, SA; King, RA; Reish, O | 1 |
| Applegarth, DA; Seccombe, D; Vallance, HD | 1 |
| Berry, SA; King, RA; Reish, O; Townsend, D; Tsai, MY | 1 |
| Boers, GH; Janssen, MJ; Stehouwer, CD; van den Berg, M | 1 |
| Blundell, G; Rose, FA; Tudball, N | 1 |
| Curtis, CG; Elias, PR; Hann, AC; Rose, FA; Tudball, N | 1 |
| Andersson, A; Hultberg, B; Lindgren, A | 1 |
| Boers, GH | 2 |
| Christensen, B; Chu, RC; Rosenblatt, DS; Ueland, PM | 1 |
| Dudman, NP; Wang, J; Wilcken, DE | 1 |
| Aarsland, A; Mansoor, MA; Svardal, AM; Ueland, PM | 1 |
| Daly, L; Graham, IM; Robinson, K; Tan, KS | 1 |
| Cabello Tomás, ML; Dalmau Serra, J; García Gómez, AM; Montero Brens, C; Rodes Monegal, M; Vilaseca Busca, A | 1 |
| Kang, SS; Passen, EL; Ruggie, N; Sora, H; Wong, PW | 1 |
| Motulsky, AG | 1 |
| Kuritzky, L | 1 |
| Jacobsen, DW; Mayer, EL; Robinson, K | 1 |
| Arnadottir, M; Hultberg, B; Nilsson-Ehle, P; Thysell, H; Vladov, V | 1 |
| Blom, HJ; Boers, GH; Fang-Kircher, S; Lubec, B; Lubec, T | 1 |
| Dawson, PA; Dudman, NP; Gordon, RB; Guo, XW; Wilcken, DE | 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 |
| Brude, I; Christiansen, EN; Drevon, CA; Halvorsen, B; Nenseter, MS; Nysom, J; Ose, L | 1 |
| Boers, GH; van den Berg, M | 1 |
| Blom, HJ; Boers, GH; Franken, DG; Tangerman, A; Thomas, CM; Trijbels, FJ | 1 |
| Baumgartner, RN; Garry, PJ; Koehler, KM; Pareo-Tubbeh, SL; Romero, LJ | 1 |
| Futterman, LG; Lemberg, L | 1 |
| Ambrosi, P; Garçon, D; Rolland, P | 1 |
| Cole, DE; Evrovski, J; Miner, SE | 1 |
| Bellamy, MF; McDowell, IF | 1 |
| Bakker, RC; Brandjes, DP | 1 |
| Wautrecht, JC | 1 |
| Singh, H | 1 |
| Donner, MG; Richter, WO; Schwandt, P | 1 |
| Kagan, HM; Liu, G; Nellaiappan, K | 1 |
| Boddie, AM; Coates, RJ; Dembure, PP; Elsas, LJ; Pasquali, M; Steen, MT; Sullivan, KM | 1 |
| Blom, HJ; Boers, GH; Kluijtmans, LA; Novakova, IR; Trijbels, FJ; Verbruggen, B | 1 |
| Blanco Vaca, F; Córdoba Porras, A; González Sastre, F | 1 |
| Carreras, LO; Falcón, CR | 1 |
| Fiskerstrand, T; Guttormsen, AB; Refsum, H; Ueland, PM | 1 |
| Goulding, C; Matthews, RG; Sheppard, C | 1 |
| Bridge, C; Till, J; Walter, JH; White, FJ; Wraith, JE | 1 |
| Boers, G | 1 |
| Arn, PH; Driscoll, DJ; Rosenblatt, DS; Williams, CA; Zori, RT | 1 |
| Makris, M | 2 |
| Blom, HJ; Boers, GH; Fritzer-Szekeres, M; Lubec, B; Szekeres, T | 1 |
| Campeau, E; Gravel, RA; Hwang, HY; Leclerc, D; Phillips, JA; Rosenblatt, DS; Saberi, F; Shane, B; Wilson, A | 1 |
| Christensen, B; Rozen, R; Sibani, S; Tran, P; Weisberg, I | 1 |
| Carson, NA; Hadden, DR; Nugent, A | 1 |
| Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J | 1 |
| Denarie, N; Gariepy, J; Levenson, J; Megnien, JL; Nuoffer, JM; Saudubray, JM; Simon, A | 1 |
| Wilcken, DE | 1 |
| Wilcken, B; Wilcken, DE | 2 |
| Bostom, AG; Selhub, J | 1 |
| Alpert, MA | 1 |
| Banerjee, R; Kabil, O | 1 |
| Doshi, SN; Goodfellow, J; Lewis, MJ; McDowell, IF | 1 |
| Mann, GV | 1 |
| Adachi, T; Duarte, N; Green, K; Hara, H; Wang, XL; Wilcken, B; Wilcken, DE | 1 |
| Berrettini, M; Burlina, A; Cella, G; Girolami, A; Motta, G; Sbarai, A; Strauss, W | 1 |
| Coppola, A; Di Minno, G; Mancini, FP; Margaglione, M | 1 |
| Brattström, L; Wilcken, DE | 1 |
| Beresford, SA; Refsum, H; Ueland, PM; Vollset, SE | 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 |
| Cerbone, AM; Coppola, A; Davi, G; De Stefano, V; Di Minno, G; Mancini, FP | 1 |
| Rozen, R | 1 |
| Refsum, H; Schneede, J; Ueland, PM | 1 |
| Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S | 1 |
| Cleophas, TJ; Hornstra, N; van der Meulen, J; van Hoogstraten, B | 1 |
| Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG | 1 |
| Bleich, S; Degner, D; Javaheripour, K; Kornhuber, J; Kurth, C | 1 |
| Hajjar, KA | 1 |
| Følling, I; Guttormsen, AB; Kim, CE; Kruger, WD; Ose, L; Refsum, H; Ueland, PM | 1 |
| Sansaricq, C; Snyderman, SE; Topaloglu, AK | 1 |
| Beevers, DG; Blann, AD; Edmunds, E; Jones, AF; Lip, GY; Martin, SC | 1 |
| Barbado Hernández, FJ; Gómez Cerezo, JF; Ríos Blanco, JJ; Suárez García, I; Vázquez Rodríguez, JJ | 1 |
| Andria, G; Cerbone, AM; Ciabattoni, G; Coppola, A; Davì, G; Di Minno, G; Falco, A; Madonna, P; Marchesani, P; Patrono, C; Tufano, A | 1 |
| Herrmann, W | 1 |
| Almeida, CM; Félix, EP; Ferraz, HB; Fukujima, MM; Gabbai, AA; Silva, GS | 1 |
| Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK | 1 |
| Ashfield-Watt, PA; Doshi, SN; McDowell, IF; Moat, SJ | 1 |
| Mizoguchi, N; Ono, H; Sakamoto, A; Sakura, N | 1 |
| Chassé, JF; Le Hello, C; Mégnien, JL; Parrot, F; Quéré, I; Ruivard, M; Saudubray, JM; Simorre, B; Touati, G; Zittoun, J | 1 |
| Duarte, NL; Wang, XL; Wilcken, DE | 1 |
| Christopher, SA; James, SJ; Kruger, WD; Melnyk, S | 1 |
| Biancheri, R; Caruso, U; Cerone, R; Minniti, G; Perrone, MV; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Veneselli, E | 1 |
| Streck, EL; Tagliari, B; Wajner, M; Wannmacher, C; Wyse, AT; Zugno, AI | 1 |
| Jacobsen, DW; Majors, AK; Pyeritz, RE; Sengupta, S | 1 |
| Mudd, SH | 1 |
| Borgheresi, S; Zammarchi, E | 1 |
| Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA | 1 |
| Finkelstein, JD; Freeman, JM; Mudd, SH | 1 |
| Davis, JW; Flournoy, LD; Phillips, PE | 1 |
| Kjellström, T; Nordström, M | 1 |
| Refsum, H; Ueland, PM; Ulvik, RJ | 1 |
| Akagi, H; Hamada, R; Kamitsuchibashi, H; Kitazono, M; Nakano, A; Osame, M; Yamamoto, K; Yoshida, Y | 1 |
| Clarke, R; Fitzgerald, D; Graham, I; O'Brien, C; O'Farrell, C; Parker, RA; Roche, G | 1 |
| Hennekens, CH; Malinow, MR; Newcomer, LM; Stampfer, MJ; Tishler, PV; Ullmann, D; Upson, B; Willett, WC | 1 |
| Burke, G; Drumm, J; Graham, I; Refsum, H; Robinson, K; Stuart, B | 1 |
| Brattström, L; Hultberg, B; Israelsson, B | 1 |
| Brattström, L; Hultberg, B; Israelsson, B; Lagerstedt, C; Tengborn, L | 1 |
| Chadefaux, B; Fressinaud, C; Haguenau, M; Le Coz, P; Marquet, J; Vallat, JM; Visy, J; Visy, JM; Woimant, F; Zittoun, J | 1 |
| Boers, GH; Eskes, TK; Steegers-Theunissen, RP; Trijbels, FJ | 1 |
| McGill, JJ; Mettler, G; Rosenblatt, DS; Scriver, CR | 1 |
| Malinow, MR | 1 |
| Genest, JJ; Malinow, MR; McNamara, JR; Salem, DN; Schaefer, EJ; Wilson, PW | 1 |
| Dudman, NP; Wilcken, DE; Wiley, VC | 2 |
| Rabenstein, DL; Yamashita, GT | 1 |
| Allard, D; Ceballos, I; Chadefaux, B; Jérôme, H | 1 |
| Brattström, L; Hultberg, B; Israelsson, B; Lindgärde, F | 1 |
| Davidson, WD; Kopple, JD; Laidlaw, SA; Smolin, LA | 1 |
| Kane, WH; Rodgers, GM | 1 |
| Furukawa, S; Ito, M; Kuroda, Y; Miyao, M; Naito, E; Takeda, E; Tomita, T; Toshima, K; Watanabe, T | 1 |
| Cooper, BA; Erbe, RW; Rosenblatt, DS; Thomas, IT; Watkins, D | 1 |
| Dudman, NP; Tyrrell, PA; Wilcken, DE | 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 |
| Ikegami, T; Kodama, H; Oura, T; Yao, K | 1 |
| Pestaña, A; Sandoval, IV; Sols, A | 1 |
| Sviatkina, OB; Vel'tishchev, IuE | 1 |
| Ikegami, T; Kodama, H; Mizuhara, S; Omori, S; Oura, T | 1 |
| Turner, B; Wilcken, B | 1 |
| Jackson, SH | 1 |
| Conerly, EB; Mudd, SH; Uhlendorf, BW | 1 |
| Kang, AH; Trelstad, RL | 1 |
| Gaull, G; Schaffner, F; Sturman, JA | 1 |
| Fowler, B; Komrower, GM; Robins, AJ; Sardharwalla, IB | 1 |
| Chatagner, F | 1 |
| Fowler, B; Sardharwalla, IB | 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 |
| Fowler, B; Robins, AJ; Sardharwalla, IB | 1 |
| Goodman, SI; Hammond, KB; Moe, PG; Mudd, SH; Uhlendorf, BW | 1 |
| Bradley, KH; Schneider, JA; Seegmiller, JE | 1 |
| Carson, NA | 1 |
| Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH | 1 |
| Gjessing, LR; Seip, M; Vellan, EJ | 1 |
| Araki, S; Cowen, D; Rowland, LP; Thompson, HL; White, HH | 1 |
| Brett, EM | 1 |
| Dolman, CL; Dunn, HG; Perry, TL | 1 |
| Gaitonde, MK; Gaull, G | 1 |
75 review(s) available for homocysteine and CBS Deficiency
| Article | Year |
|---|---|
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 |
When to measure plasma homocysteine and how to place it in context: The homocystinurias.
Topics: Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male | 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 |
The Effects of Homocysteine on the Skeleton.
Topics: Bone and Bones; Collagen; Folic Acid Deficiency; Glycation End Products, Advanced; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Osteoblasts; Osteoclasts; Osteoporosis; Polymorphism, Genetic; Psychotic Disorders; Vitamin B Deficiency | 2018 |
[Reconsideration of homocysteinemia].
Topics: Animals; Disease Models, Animal; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Sulfhydryl Compounds | 2013 |
Homocysteine and the pathogenesis of atherosclerosis.
Topics: Animals; Atherosclerosis; Homocysteine; Homocystinuria; Humans; Lipoproteins; Oxidative Stress; Plaque, Atherosclerotic | 2015 |
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Topics: Betaine; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine | 2017 |
[Present role of homocysteine in clinical medicine].
Topics: Adolescent; Adult; Cardiovascular Diseases; Child; Child, Preschool; Ectopia Lentis; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant; Infant, Newborn; Life Style; Male; Middle Aged; Myopia; Pregnancy; Randomized Controlled Trials as Topic; Risk Factors; Vitamin B 12; Vitamin B 12 Deficiency | 2009 |
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.
Topics: Animals; Disease Models, Animal; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Mice; Vascular Diseases | 2011 |
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Central Nervous System; Child; Child, Preschool; Eye Diseases; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Middle Aged; Oxidoreductases; Pregnancy; Vitamin B 12 Deficiency | 2012 |
Enzymatic and non-enzymatic antioxidative effects of folic acid and its reduced derivates.
Topics: Animals; Antioxidants; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Lipid Peroxidation; Nitric Oxide Synthase Type III; Oxidation-Reduction; Oxidative Stress | 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 |
Homocysteine and oxidative stress.
Topics: Animals; Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Lipoproteins, LDL; Models, Biological; Oxidative Stress; Risk Factors; Superoxide Dismutase | 2003 |
Homocysteine and endothelial function in human studies.
Topics: Blood Flow Velocity; Endothelium, Vascular; Folic Acid; Hematinics; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Vascular Diseases; Vasodilation | 2005 |
Homocysteine and venous thrombosis.
Topics: Biomarkers; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Polymorphism, Genetic; Risk Factors; Venous Thrombosis | 2005 |
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 |
Homocysteine--a newly recognised risk factor for osteoporosis.
Topics: Animals; Bone and Bones; Bone Density; Homocysteine; Homocystinuria; Humans; Osteoporosis; Risk Factors | 2005 |
Homocysteine-lowering trials for prevention of cardiovascular events: a review of the design and power of the large randomized trials.
Topics: Cardiovascular Diseases; Folic Acid; Homocysteine; Homocystinuria; Humans; Kidney Diseases; Myocardial Infarction; Randomized Controlled Trials as Topic; Stroke; Vitamin B Complex | 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 |
Hyperhomocysteinemia and venous thromboembolism.
Topics: Case-Control Studies; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methylenetetrahydrofolate Reductase (NADPH2); Point Mutation; Prospective Studies; Recurrence; Risk Factors; Thromboembolism; Thrombophilia; Venous Thrombosis; Vitamins | 2006 |
Homocysteine and large arteries.
Topics: Arteries; Cardiovascular Diseases; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Vascular Resistance | 2007 |
Folic acid, homocysteine, and cardiovascular disease: judging causality in the face of inconclusive trial evidence.
Topics: Cardiovascular Diseases; Causality; Cohort Studies; Evidence-Based Medicine; Folic Acid; Homocysteine; Homocystinuria; Humans; Polymorphism, Genetic; Randomized Controlled Trials as Topic | 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 |
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria].
Topics: Animals; Astrocytes; Brain; Cell Communication; Cystathionine beta-Synthase; DNA Damage; Homocysteine; Homocystinuria; Humans; Mental Disorders; Mice; Nervous System Diseases; Neurons | 2007 |
[Cystathionine betasynthase and MTHFR deficiencies in adults].
Topics: Animals; Folic Acid; Homocysteine; Homocystinuria; Humans; Magnetic Resonance Imaging; Nervous System Diseases; Tetrahydrofolate Dehydrogenase | 2007 |
Betaine therapy for homocystinuria.
Topics: Adult; Betaine; Child, Preschool; Female; Homocysteine; Homocystinuria; Humans; Male | 1984 |
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 |
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.
Topics: Arteriosclerosis; Coronary Disease; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Neural Tube Defects; Nutritional Physiological Phenomena; Polymorphism, Genetic; Risk Factors; Sex Characteristics | 1996 |
Homocysteine as a risk factor for arteriosclerosis.
Topics: Arteriosclerosis; Homocysteine; Homocystinuria; Humans; Risk Factors | 1996 |
Homocysteine and coronary atherosclerosis.
Topics: Coronary Artery Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Pyridoxine; Risk Factors; Vitamin B 12 | 1996 |
Homocystinuria: what about mild hyperhomocysteinaemia?
Topics: Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Prevalence; Risk Factors | 1996 |
Folate nutrition and older adults: challenges and opportunities.
Topics: Aged; Aged, 80 and over; Aging; Female; Folic Acid; Food, Fortified; Homocysteine; Homocystinuria; Humans; Male; Nutritional Status; Risk Factors; Vascular Diseases; Vitamin B 12; Vitamin B 12 Deficiency | 1997 |
Clinical chemistry and molecular biology of homocysteine metabolism: an update.
Topics: Female; Genotype; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Models, Biological; Neural Tube Defects; Oxidoreductases Acting on CH-NH Group Donors; Practice Guidelines as Topic; Renal Insufficiency; Vascular Diseases; Vitamin B Deficiency | 1997 |
Putative mechanisms for vascular damage by homocysteine.
Topics: Homocysteine; Homocystinuria; Humans; Vascular Diseases | 1997 |
Hyperhomocysteinaemia and associated disease.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Arteriosclerosis; Female; Homocysteine; Homocystinuria; Homozygote; Humans; Lyases; Metabolism, Inborn Errors; Methylenetetrahydrofolate Reductase (NADPH2); Neural Tube Defects; Oxidoreductases; Pregnancy; Pregnancy Complications; Thrombophlebitis | 1997 |
[Hyperhomocysteinemia: risk factor for premature atheromatosis].
Topics: Age of Onset; Arteriosclerosis; Homocysteine; Homocystinuria; Humans; Risk; Risk Factors | 1997 |
Selections from current literature: homocysteine: a modifiable risk factor for cardiovascular disease.
Topics: Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Mass Screening; Research Design; Risk Factors | 1997 |
[Homocysteine and coronary heart disease. Is slight or moderate homocysteinemia related to increased risk of coronary heart disease?].
Topics: Adult; Child; Coronary Disease; Genetic Carrier Screening; Homocysteine; Homocystinuria; Humans; Risk Factors | 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 in terms of steady-state kinetics.
Topics: Cells, Cultured; Half-Life; Homocysteine; Homocystinuria; Humans; Kidney; Kinetics; Liver | 1998 |
Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Sequence; Animals; Enzyme Activation; Escherichia coli; Homocysteine; Homocystinuria; Homozygote; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Molecular Sequence Data; Mutation; Oxidoreductases Acting on CH-NH Group Donors; Polymorphism, Genetic; Vitamin B 12 | 1998 |
Moderate hyperhomocysteinaemia and vascular disease: evidence, relevance and the effect of treatment.
Topics: Arterial Occlusive Diseases; Arteriosclerosis; Homocysteine; Homocystinuria; Humans; Odds Ratio; Risk Factors; Smoking; Thrombosis; Vascular Diseases | 1998 |
Hyperhomocysteinemia is a risk factor for venous and arterial thrombosis.
Topics: Homocysteine; Homocystinuria; Humans; Thrombosis | 1998 |
Novel risk factors for vascular disease: the homocysteine hypothesis of cardiovascular disease.
Topics: Cardiovascular Diseases; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Risk Factors | 1998 |
B vitamins and homocysteine in cardiovascular disease and aging.
Topics: Aging; Cardiovascular Diseases; Diet; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Humans; Pyridoxine; Risk Factors; Vitamin B 12; Vitamin B Deficiency | 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 |
Homocyst(e)ine, atherosclerosis, and thrombosis.
Topics: Adult; Aged; Arteriosclerosis; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Middle Aged; Thrombosis | 1999 |
Homocysteine and endothelial function.
Topics: Aged; Cardiovascular Diseases; Endothelium, Vascular; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Middle Aged; Regional Blood Flow; Risk Factors; Vasodilation | 1999 |
Homocysteine, platelet function and thrombosis.
Topics: Arterial Occlusive Diseases; Blood Coagulation Factors; Blood Platelets; Comorbidity; Endothelium, Vascular; Fibrinolysis; Free Radicals; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Nitric Oxide; Oxidative Stress; Thrombin; Thrombomodulin; Thrombophilia; Thromboxane A2 | 1999 |
Homocysteine and cardiovascular disease: cause or effect?
Topics: Cardiovascular Diseases; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Kidney; Kidney Diseases | 2000 |
The controversy over homocysteine and cardiovascular risk.
Topics: Cardiovascular Diseases; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Kidney Diseases; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Prospective Studies; Risk Factors; Vitamin B Complex | 2000 |
Hyperhomocysteinemia and thrombosis.
Topics: Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Pregnancy; Risk Factors; Thrombosis | 2000 |
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 |
Homocysteine, coagulation, platelet function, and thrombosis.
Topics: Adolescent; Adult; Arteriosclerosis; Blood Coagulation; Cardiovascular Diseases; Cellular Senescence; Child; Endothelium, Vascular; Female; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Lipid Peroxidation; Lipoproteins, LDL; Male; Methyltransferases; Oxidation-Reduction; Platelet Activation; Reactive Oxygen Species; Renal Insufficiency; Risk Factors; S-Adenosylhomocysteine; Thrombophilia; Thromboxane B2; Vitamin K | 2000 |
Genetic modulation of homocysteinemia.
Topics: Amino Acid Substitution; Cardiovascular Diseases; Cystathionine beta-Synthase; Cysteine; Folic Acid; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Genotype; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methyltransferases; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Point Mutation; Polymorphism, Genetic; Sulfur; Tetrahydrofolates | 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 |
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 |
Homocysteine, a risk factor for coronary artery disease or not? A meta-analysis.
Topics: Biomarkers; Case-Control Studies; Comorbidity; Coronary Disease; Female; Homocysteine; Homocystinuria; Humans; Incidence; Male; Prognosis; Randomized Controlled Trials as Topic; Risk Assessment; Risk Factors; Sensitivity and Specificity | 2000 |
Homocysteine: a sulph'rous fire.
Topics: Animals; Arteriosclerosis; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Inflammation; Male; Vascular Diseases | 2001 |
[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 |
[Homocysteine. The cardiovascular risk factor of the next millennium?].
Topics: Animals; Arteriosclerosis; Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Risk Factors; Thromboembolism | 2001 |
Folate, homocysteine, endothelial function and cardiovascular disease. What is the link?
Topics: Cardiovascular Diseases; Clinical Trials as Topic; Endothelium, Vascular; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methylenetetrahydrofolate Reductase (NADPH2); Nitric Oxide; Oxidoreductases Acting on CH-NH Group Donors; Vitamins | 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 |
[Homocystinuria. Clinical review and report of a case].
Topics: Amino Acids, Sulfur; Bone Diseases; Cystathionine beta-Synthase; Eye Diseases; Homocysteine; Homocystine; Homocystinuria; Humans; Intestinal Absorption; Methyltransferases; Nervous System Diseases; Skin Diseases; Tetrahydrofolate Dehydrogenase; Thrombosis; 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 |
[Routine determination of homocysteine in plasma. A new and improved possibility for risk evaluation and diagnosis of common diseases].
Topics: Adult; Cardiovascular Diseases; Chromatography, High Pressure Liquid; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Middle Aged; Risk Factors; Vitamin B 12 Deficiency | 1992 |
[Hyperhomocysteinemia--a new risk factor for vascular diseases?].
Topics: Homocysteine; Homocystinuria; Humans; Risk Factors; Vascular Diseases | 1992 |
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.
Topics: Alleles; Cystathionine beta-Synthase; Female; Genes, Recessive; Genetic Carrier Screening; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Phenotype; Predictive Value of Tests | 1990 |
Hyperhomocyst(e)inemia. A common and easily reversible risk factor for occlusive atherosclerosis.
Topics: Arteriosclerosis; Homocysteine; Homocystine; Homocystinuria; Humans; Risk Factors | 1990 |
[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 |
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 |
[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 |
6 trial(s) available for homocysteine 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 |
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Topics: Adolescent; Adult; Biomarkers; Brachial Artery; Child; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Inflammation; Male; Oxidative Stress; Taurine; United States; Young Adult | 2019 |
Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.
Topics: Adiposity; Adolescent; Adult; Amino Acids; Bone Density; Cholesterol, HDL; Choline; Ethanolamine; Female; Homocysteine; Homocystinuria; Humans; Male | 2014 |
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 |
Thiamine (vitamin B1) supplementation does not reduce fasting blood homocysteine concentration in most homozygotes for homocystinuria.
Topics: Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Homozygote; Humans; Thiamine | 1996 |
Oxidative stress and platelet activation in homozygous homocystinuria.
Topics: Adolescent; Adult; Cystathionine beta-Synthase; Dinoprost; F2-Isoprostanes; Female; Homocysteine; Homocystinuria; Homozygote; Humans; Male; Middle Aged; Mutation; Oxidative Stress; Platelet Activation; Thromboxane B2; Vitamin E | 2001 |
262 other study(ies) available for homocysteine and CBS Deficiency
| Article | Year |
|---|---|
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Topics: Cohort Studies; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Retrospective Studies | 2022 |
[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 |
Homocysteine Metabolism Pathway Is Involved in the Control of Glucose Homeostasis: A Cystathionine Beta Synthase Deficiency Study in Mouse.
Topics: Animals; Cystathionine beta-Synthase; Diabetes Mellitus, Type 2; Glucose; Homeostasis; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Mice | 2022 |
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Topics: Adult; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Metabolism, Inborn Errors; Retrospective Studies; Vitamin B 12 | 2023 |
Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization.
Topics: Flow Injection Analysis; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Neonatal Screening; Quality Control; Tandem Mass Spectrometry | 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 |
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Topics: Child; Cystathionine beta-Synthase; Dystonia; Dystonic Disorders; Homocysteine; Homocystinuria; Humans; Pyridoxine; Vitamin B 6 | 2023 |
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.
Topics: Adolescent; Ataxia; Brain; Carrier Proteins; Child; Female; Homocysteine; Homocystinuria; Humans; Injections, Intravenous; Late Onset Disorders; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Mutation; Oxidoreductases; Subacute Combined Degeneration; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex | 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 |
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Databases, Factual; Female; Homocysteine; Homocystinuria; Humans; Hypothyroidism; Infant; Infant, Newborn; Male; Middle Aged; Neonatal Screening; Prevalence; Renal Insufficiency; United States | 2020 |
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Health Care Costs; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Insurance Claim Review; Male; Middle Aged; Phenylketonurias; Prevalence; Retrospective Studies; United States; Young Adult | 2020 |
The determinants of maternal homocysteine in pregnancy: findings from the Ottawa and Kingston Birth Cohort.
Topics: Canada; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Pregnancy | 2020 |
An unusually high plasma concentration of homocysteine resulting from a combination of so-called "secondary" etiologies.
Topics: Aged; Betaine; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Leucovorin; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex | 2020 |
Methylenetetrahydrofolate reductase deficiency alters cellular response after ischemic stroke in male mice.
Topics: Animals; Homocysteine; Homocystinuria; Ischemic Stroke; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Muscle Spasticity; Psychotic Disorders | 2022 |
Methylene Tetrahydrofolate Reductase Deficiency.
Topics: Folic Acid; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders | 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 |
Telomere length and mtDNA copy number in human cystathionine β-synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; DNA Copy Number Variations; DNA, Mitochondrial; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant; Infant, Newborn; Male; Middle Aged; Telomere; Telomere Shortening; Young Adult | 2020 |
Cystathionine β-synthase Deficiency Impairs Vision in the Fruit Fly,
Topics: Animals; Blotting, Western; Cystathionine beta-Synthase; Disease Models, Animal; Drosophila melanogaster; Gene Expression Regulation, Enzymologic; Homocysteine; Homocystinuria; Phototaxis; Vision Disorders | 2021 |
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 |
Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.
Topics: Adolescent; Adult; Cognitive Dysfunction; Gait Disorders, Neurologic; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult | 2021 |
[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 |
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 |
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Homocysteine; Homocystinuria; Humans; Methylmalonic Acid; Oxidoreductases; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Retrospective Studies; Vitamin B 12 | 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 |
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Animals; Female; Homocysteine; Homocystinuria; Humans; Male; Methylmalonic Acid; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Transgenic; Middle Aged; Mutation; Oxidoreductases; Phenotype; Retina; Retinal Degeneration; Vitamin B 12; Young Adult | 2021 |
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria.
Topics: Amino Acid Sequence; Animals; Cross-Linking Reagents; Cystathionine beta-Synthase; Cysteine; Delayed-Action Preparations; Disease Models, Animal; Enzyme Replacement Therapy; Homocysteine; Homocystinuria; Humans; Maleimides; Mice; Polyethylene Glycols; Succinimides | 2017 |
Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child.
Topics: Child; Ectopia Lentis; Homocysteine; Homocystinuria; Humans; Neurofibromatosis 1; Treatment Outcome | 2016 |
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Topics: Adult; Brain; Family; Female; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle Spasticity; Mutation; Psychotic Disorders; Thromboembolism | 2017 |
Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.
Topics: Adult; Brain; Brain Edema; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Magnetic Resonance Imaging; Male; Marfan Syndrome; Seizures; Sinus Thrombosis, Intracranial; Tomography, X-Ray Computed | 2018 |
Classical Homocystinuria in a Juvenile Patient.
Topics: Child, Preschool; Chromatography, Ion Exchange; Cystathionine beta-Synthase; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine; Treatment Outcome; Vitamin B 12 | 2018 |
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 |
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 |
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Female; France; Homocysteine; Homocystinuria; Humans; Infant; Male; Registries; Retrospective Studies; Spain; Treatment Outcome; Young Adult | 2019 |
Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents.
Topics: Alleles; Fathers; Female; Ferredoxin-NADP Reductase; Folic Acid; Genetic Predisposition to Disease; Genotype; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mothers; Muscle Spasticity; Neural Tube Defects; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Pregnancy; Psychotic Disorders; Tunisia | 2019 |
Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Topics: Alleles; Animals; Bortezomib; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Homocysteine; Homocystinuria; Male; Mice; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Knockout; Mutation; Proteasome Inhibitors; Pyridoxine | 2019 |
Glutathione metabolism in cobalamin deficiency type C (cblC).
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Case-Control Studies; Child; Child, Preschool; Cysteine; Disease Progression; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Infant; Lymphocytes; Male; Oxidation-Reduction; Oxidative Stress; Oxidoreductases; Oxygen; Reactive Oxygen Species; Vitamin B 12; Vitamin B 12 Deficiency | 2014 |
Woman with sudden loss of vision: homocystinuria.
Topics: Adult; Blindness; Corneal Edema; Female; Homocysteine; Homocystinuria; Humans; Intraocular Pressure; Lens Subluxation; Pupil Disorders; Pyridoxal Phosphate; Visual Acuity; Vitrectomy | 2013 |
MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women.
Topics: Abortion, Habitual; Adolescent; Adult; Amino Acid Substitution; Case-Control Studies; Female; Folic Acid; Gene Frequency; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; India; Methylenetetrahydrofolate Reductase (NADPH2); Polymorphism, Single Nucleotide; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult | 2013 |
Selective homocysteine lowering gene transfer improves infarct healing, attenuates remodelling, and enhances diastolic function after myocardial infarction in mice.
Topics: Adenoviridae; Animals; Cystathionine beta-Synthase; Diastole; Diet, High-Fat; Female; Genetic Vectors; Heart; Heart Failure; Homocysteine; Homocystinuria; Hypercholesterolemia; Hyperhomocysteinemia; Mice; Mice, Inbred C57BL; Mice, Knockout; Myocardial Infarction; Receptors, LDL; Transgenes; Ventricular Remodeling | 2013 |
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 |
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 |
Identification of N-homocysteinylation sites in plasma proteins.
Topics: Blood Proteins; Homocysteine; Homocystinuria; Humans; Peptides; Protein Processing, Post-Translational | 2014 |
Capgras syndrome in homocystinuria.
Topics: Adult; Capgras Syndrome; Female; Homocysteine; Homocystinuria; Humans; Psychiatric Status Rating Scales | 2014 |
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.
Topics: Animals; Arginine; Brain; Cystathionine beta-Synthase; Disease Models, Animal; DNA Methylation; Histones; Homocysteine; Homocystinuria; Liver; Methylation; Mice; S-Adenosylhomocysteine | 2014 |
Homocysteine contribution to DNA damage in cystathionine β-synthase-deficient patients.
Topics: Adolescent; Adult; Case-Control Studies; Child; Comet Assay; Cystathionine beta-Synthase; DNA Damage; Female; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Male; Prognosis; Young Adult | 2014 |
Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.
Topics: Anticonvulsants; Brain; Cavernous Sinus Thrombosis; Child, Preschool; Electroencephalography; Epilepsy; Gadolinium; Homocysteine; Homocystinuria; Humans; Magnetic Resonance Angiography; Male; Psychomotor Disorders; Tomography Scanners, X-Ray Computed | 2015 |
[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].
Topics: Adult; Biomarkers; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation, Missense; Polymorphism, Single Nucleotide; Psychotic Disorders; Treatment Outcome; Vitamin B 12; Vitamin B 6 | 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 |
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 |
MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring.
Topics: Animals; Apoptosis; Body Weight; Choline Deficiency; Choline O-Acetyltransferase; Disease Models, Animal; Female; Folic Acid Deficiency; Hippocampus; Homocysteine; Homocystinuria; Male; Maternal Nutritional Physiological Phenomena; Maze Learning; Memory Disorders; Memory, Short-Term; Methylenetetrahydrofolate Reductase (NADPH2); Mice, Transgenic; Muscle Spasticity; Neurogenesis; Organ Size; Pregnancy; Pregnancy Complications; Psychotic Disorders; Recognition, Psychology | 2015 |
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carrier Proteins; China; Computational Biology; Female; Fluorescence Polarization Immunoassay; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Molecular Sequence Data; Mutation, Missense; Oxidoreductases; Pedigree; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Urinalysis; Vitamin B 12 Deficiency | 2015 |
High homocysteine induces betaine depletion.
Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Carrier Proteins; Disease Models, Animal; Female; GABA Plasma Membrane Transport Proteins; Homocysteine; Homocystinuria; Humans; Male; Mice; Mice, Transgenic; Rats; Rats, Wistar | 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 |
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Topics: Adult; Aged; Aged, 80 and over; Base Sequence; Bone Density; Cystathionine beta-Synthase; Denmark; Female; Follow-Up Studies; Genotype; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Hyperhomocysteinemia; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Mutation; Polymorphism, Genetic; Prevalence; Thromboembolism; Young Adult | 2016 |
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Electroretinography; Female; Follow-Up Studies; Fumarates; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Maleates; Optic Nerve Diseases; Optical Imaging; Retinal Degeneration; Tomography, Optical Coherence; Vision Disorders; Visual Acuity; Vitamin B 12 Deficiency | 2016 |
Lack of global epigenetic methylation defects in CBS deficient mice.
Topics: Animals; Cystathionine beta-Synthase; Disease Models, Animal; DNA; DNA Methylation; Epigenesis, Genetic; Epigenomics; Homocysteine; Homocystinuria; Kidney; Liver; Mice; S-Adenosylhomocysteine; S-Adenosylmethionine | 2017 |
N-Homocysteinylation impairs collagen cross-linking in cystathionine β-synthase-deficient mice: a novel mechanism of connective tissue abnormalities.
Topics: Animals; Collagen Type I; Collagen Type I, alpha 1 Chain; Connective Tissue; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Lysine; Mice, Knockout; Peptides | 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 |
Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.
Topics: Abnormalities, Multiple; Adolescent; Bone Density; Diagnosis, Differential; Funnel Chest; Heart Murmurs; Homocysteine; Homocystinuria; Humans; Jaw Abnormalities; Lumbar Vertebrae; Male; Myopia | 2016 |
GABAA receptor agonist mitigates homocysteine-induced cerebrovascular remodeling in knockout mice.
Topics: Animals; Blood-Brain Barrier; Brain Edema; Cerebral Arteries; Cerebrovascular Circulation; Coloring Agents; Dementia, Vascular; Disease Models, Animal; Down-Regulation; Evans Blue; Extracellular Matrix Proteins; Female; GABA Agonists; GABA-A Receptor Agonists; Homocysteine; Homocystinuria; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscimol; Receptors, GABA-A; Up-Regulation | 2008 |
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 |
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Topics: Adolescent; Adult; Aged; Cystathionine beta-Synthase; Fibrinogen; Genes; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Mutation | 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 |
Paraoxonase 1 protects against protein N-homocysteinylation in humans.
Topics: Adolescent; Adult; Aged; Aryldialkylphosphatase; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Middle Aged; Young Adult | 2010 |
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
Topics: Cells, Cultured; Cystathionine beta-Synthase; Ectopia Lentis; Fibrillin-1; Fibrillins; Fibroblasts; Homocysteine; Homocystinuria; Humans; Marfan Syndrome; Microfilament Proteins; Mutation; Protein Multimerization; Protein Processing, Post-Translational; Protein Structure, Tertiary; Scoliosis; Tropoelastin | 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 |
Homocysteine--what does it mean and have we been led astray?
Topics: Biomarkers; Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Risk Factors | 2010 |
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
Topics: Administration, Oral; Animals; Apolipoprotein A-I; Beverages; Biomarkers; Blood Glucose; Cholesterol, HDL; Cysteine; Disease Models, Animal; Glycine; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Lipid Metabolism; Liver; Male; Mice; Mice, Knockout; RNA, Messenger; Spain; Triglycerides | 2010 |
Methylmalonic aciduria and homocystinuria-associated maculopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Homocysteine; Homocystinuria; Humans; Macula Lutea; Male; Methylmalonic Acid; Retinal Degeneration | 2010 |
Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice.
Topics: Analysis of Variance; Animals; Animals, Newborn; Avoidance Learning; Behavior, Animal; Exploratory Behavior; Female; Folic Acid; GABA Agents; Heterozygote; Homocysteine; Homocystinuria; Linear Models; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Muscle Spasticity; Phenotype; Psychotic Disorders; Receptors, GABA; Recognition, Psychology; Reflex; Sex Factors; Statistics, Nonparametric; Vigabatrin | 2011 |
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; China; Codon, Nonsense; DNA Mutational Analysis; Exons; Gas Chromatography-Mass Spectrometry; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Oxidoreductases; Phenotype; Vitamin B 12 Deficiency | 2010 |
The effect of homocysteine on the clinical outcomes of ventilated patients with severe sepsis.
Topics: Activated Protein C Resistance; Aged; Blood Coagulation Tests; Cohort Studies; Comorbidity; Factor V; Female; Folic Acid; Homocysteine; Homocystinuria; Hospital Mortality; Humans; Hyperhomocysteinemia; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle Spasticity; Point Mutation; Protein C; Psychotic Disorders; Respiration, Artificial; Sepsis; Shock, Septic; Thrombophilia; Vitamin B 12 | 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 |
Homocysteine alters glutamate uptake and Na+,K+-ATPase activity and oxidative status in rats hippocampus: protection by vitamin C.
Topics: Animals; Antioxidants; Ascorbic Acid; Catalase; Glutamic Acid; Hippocampus; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Oxidative Stress; Rats; Rats, Wistar; Reactive Oxygen Species; Sodium-Potassium-Exchanging ATPase; Superoxide Dismutase | 2011 |
Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria.
Topics: Animals; Blotting, Western; Case-Control Studies; Disease Models, Animal; Fatty Liver; Homocysteine; Homocystinuria; Liver Regeneration; Mice; Phospholipids; Spectrometry, Mass, Electrospray Ionization; Triglycerides | 2011 |
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Topics: Alleles; Argentina; Cystathionine beta-Synthase; Female; Frameshift Mutation; Gene Expression; Homocysteine; Homocystinuria; Humans; Introns; Male; Mutagenesis, Site-Directed; RNA Splice Sites; Sequence Deletion; Spain; Structure-Activity Relationship | 2011 |
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 |
Disturbed one-carbon metabolism causing adverse reproductive outcomes in mice is associated with altered expression of apolipoprotein AI and inflammatory mediators PPARα, interferon-γ, and interleukin-10.
Topics: Animals; Apolipoprotein A-I; Choline Deficiency; DNA Methylation; Female; Gene Expression; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Inflammation Mediators; Interferon-gamma; Interleukin-10; Liver; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred BALB C; Mice, Knockout; Muscle Spasticity; Placenta; PPAR alpha; Pregnancy; Pregnancy Complications; Promoter Regions, Genetic; Psychotic Disorders; RNA, Messenger | 2012 |
Liver transplantation for a patient with homocystinuria.
Topics: Adult; Homocysteine; Homocystinuria; Humans; Hypertension; Liver Failure; Liver Transplantation; Magnetic Resonance Imaging; Male; Quality of Life; Risk; Taiwan; Thromboembolism | 2012 |
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
Topics: Adult; Arginine; Biomarkers; Chromatography, High Pressure Liquid; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans | 2012 |
Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.
Topics: Animals; Apoptosis; Behavior, Animal; Brain; Cerebellum; Choline; Choline O-Acetyltransferase; DNA Methylation; Hippocampus; Homocysteine; Homocystinuria; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Knockout; Muscle Spasticity; Organ Size; Psychotic Disorders; Receptors, Glucocorticoid | 2012 |
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.
Topics: Adolescent; Adult; Animals; Apolipoprotein A-I; Apolipoproteins A; Aryldialkylphosphatase; Betaine; Brain; Carboxylic Ester Hydrolases; Child; Child, Preschool; Dietary Supplements; Disease Models, Animal; Homocysteine; Homocystinuria; Humans; Lipotropic Agents; Liver; Male; Mice; Mice, Knockout; Young Adult | 2012 |
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
Topics: Apoptosis; Child; Child, Preschool; Ferredoxin-NADP Reductase; Fibroblasts; Gene Expression Regulation; Genotype; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; MAP Kinase Kinase 4; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidative Stress; p38 Mitogen-Activated Protein Kinases; Phosphotransferases (Alcohol Group Acceptor); Reactive Oxygen Species; Signal Transduction; Superoxide Dismutase | 2013 |
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 |
Low dietary folate and methylenetetrahydrofolate reductase deficiency may lead to pregnancy complications through modulation of ApoAI and IFN-γ in spleen and placenta, and through reduction of methylation potential.
Topics: Animals; Apolipoprotein A-I; Betaine; Choline; Diet; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Interferon-gamma; Liver; Male; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred BALB C; Mice, Transgenic; Muscle Spasticity; Placenta; Pregnancy; Pregnancy Complications; Psychotic Disorders; S-Adenosylhomocysteine; S-Adenosylmethionine; Spleen | 2013 |
Anaesthetic management of a young patient with homocystinuria.
Topics: Anesthesia, General; Anesthesia, Intravenous; Anesthetics, Intravenous; Blood Glucose; Child; Ectopia Lentis; Homocysteine; Homocystinuria; Humans; Isotonic Solutions; Lens Implantation, Intraocular; Male; Perioperative Care; Propofol; Treatment Outcome | 2012 |
Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria.
Topics: Adult; Anticonvulsants; Clonazepam; Cystathionine beta-Synthase; Dystonia; Female; Homocysteine; Homocystinuria; Humans; Intellectual Disability | 2002 |
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.
Topics: Administration, Oral; Adolescent; Betaine; Child; Cystathionine beta-Synthase; Dose-Response Relationship, Drug; Female; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine; Treatment Failure | 2002 |
Homocysteine and cysteine - albumin binding in homocystinuria: assessment of cysteine status and implications for glutathione synthesis?
Topics: Adolescent; Adult; Albumins; Cystathionine beta-Synthase; Cysteine; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Protein Binding | 2002 |
Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatography with fluorimetric detection.
Topics: Amino Acids; Calibration; Chromatography, Liquid; Homocysteine; Homocystinuria; Humans; Indicators and Reagents; Infant, Newborn; Neonatal Screening; Plasma; Reproducibility of Results; Spectrometry, Fluorescence; Sulfhydryl Compounds | 2003 |
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 |
Hyperhomocysteinemia--case report.
Topics: Adult; Cerebrovascular Disorders; Exophthalmos; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Intellectual Disability | 2003 |
Betaine. Monograph.
Topics: Betaine; Cardiovascular Diseases; Fatty Liver; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Liver Diseases, Alcoholic; Obesity | 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: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Genetics, Medical; Homocysteine; Homocystinuria; Humans; Intellectual Disability; Kidney; Northern Ireland; Renal Aminoacidurias; Urologic Diseases | 1963 |
HOMOCYSTINURIA, THROMBOSIS, AND THE BLOOD-PLATELETS.
Topics: Blood Coagulation; Blood Coagulation Tests; Blood Platelets; Child; Homocysteine; Homocystinuria; Humans; Renal Aminoacidurias; Thrombophlebitis; Thrombosis | 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 |
AN INBORN ERROR OF METABOLISM ASSOCIATED WITH DEFICIENCY OF ENZYME CYSTATHIONINE SYNTHETASE LEADING TO HOMOCYSTINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Kidney; Metabolism, Inborn Errors; Renal Aminoacidurias | 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 |
Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.
Topics: Analysis of Variance; Chromatography, High Pressure Liquid; Fluorescence; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Linear Models; Neonatal Screening; Reproducibility of Results | 2004 |
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.
Topics: Animals; Animals, Suckling; Betaine; Body Weight; Brain; Disease Models, Animal; Female; Genotype; Homocysteine; Homocystinuria; Lactation; Liver; Male; Maternal-Fetal Exchange; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Knockout; Organ Size; Pregnancy | 2004 |
In vivo and in vitro effects of homocysteine on Na+, K+-ATPase activity in parietal, prefrontal and cingulate cortex of young rats.
Topics: Amidines; Analysis of Variance; Animals; Disease Models, Animal; Dose-Response Relationship, Drug; Drug Administration Schedule; Gyrus Cinguli; Homocysteine; Homocystinuria; In Vitro Techniques; Prefrontal Cortex; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Synaptic Membranes; Thiobarbituric Acid Reactive Substances; Time Factors | 2004 |
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 |
Plasma albumin cysteinylation is regulated by cystathionine beta-synthase.
Topics: Animals; Biomarkers; Cystathionine beta-Synthase; Cysteine; Homocysteine; Homocystinuria; Humans; Male; Mice; Rats; Rats, Sprague-Dawley; Reperfusion Injury; Serum Albumin | 2004 |
Blood spot homocysteine: a feasibility and stability study.
Topics: Adult; Blood Specimen Collection; Feasibility Studies; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Neonatal Screening; Paper; Time Factors | 2005 |
Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria.
Topics: Calcium; Cystathionine beta-Synthase; Epidermal Growth Factor; Fibrillin-1; Fibrillins; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Marfan Syndrome; Microfilament Proteins; Models, Molecular; Oxidation-Reduction; Peptide Fragments; Protein Folding; Protein Structure, Tertiary; Receptor, Notch1; Receptors, Cell Surface; Recombinant Proteins; Spectrometry, Mass, Electrospray Ionization; Transcription Factors; Trypsin | 2005 |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Substitution; Betaine; Brain; Cell Line, Transformed; Codon, Nonsense; DNA Mutational Analysis; Ferredoxin-NADP Reductase; Fibroblasts; Folic Acid; Genes, Synthetic; Genetic Complementation Test; Genetic Therapy; Haplotypes; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Mutation, Missense; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Recombinant Fusion Proteins; Sequence Deletion; Transfection; White People | 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 |
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Topics: Animals; Apoptosis; Collagen Type I; Cystathionine beta-Synthase; Disease Models, Animal; Fatty Liver; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Liver; Liver Cirrhosis; Mice; Mice, Mutant Strains; Oxidative Stress; RNA, Messenger; Tissue Inhibitor of Metalloproteinase-1; Transforming Growth Factor beta; Transforming Growth Factor beta1 | 2005 |
Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease.
Topics: Coronary Artery Disease; Diet Therapy; Female; Genetic Testing; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Pregnancy; Pregnancy Complications, Hematologic; Thrombosis | 2005 |
Reduction of butyrylcholinesterase activity in rat serum subjected to hyperhomocysteinemia.
Topics: Animals; Antioxidants; Arteriosclerosis; Ascorbic Acid; Butyrylcholinesterase; Disease Models, Animal; Down-Regulation; Enzyme Activation; Free Radicals; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Lipid Metabolism; Oxidative Stress; Rats; Rats, Wistar; Vitamin E | 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 |
Molecular analysis of homocystinuria in Brazilian patients.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Adult; Alleles; Brazil; Child; Child, Preschool; Cystathionine beta-Synthase; Exons; Female; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Polymorphism, Single-Stranded Conformational | 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 |
Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria.
Topics: Amino Acid Sequence; Calcium; Cells, Cultured; Chymotrypsin; Circular Dichroism; Dose-Response Relationship, Drug; Epidermal Growth Factor; Extracellular Matrix; Fibrillin-1; Fibrillins; Fibroblasts; Glycosylation; Homocysteine; Homocystinuria; Humans; Marfan Syndrome; Microfilament Proteins; Microscopy, Fluorescence; Molecular Sequence Data; Peptides; Protein Binding; Protein Conformation; Protein Structure, Secondary; Protein Structure, Tertiary; Recombinant Proteins; Sequence Homology, Amino Acid; Transfection; Trypsin | 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 |
Measuring the homocysteine level.
Topics: Cardiovascular Diseases; Clinical Trials as Topic; Hematologic Tests; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Risk Factors; Vitamin B Complex | 2005 |
From your physician assistant. Should I have a test for homocysteine?
Topics: Hematologic Tests; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Vitamin B Complex | 2005 |
[Untreated homocystinuria in adulthood].
Topics: Adult; Age Factors; Angina Pectoris; Betaine; Diagnosis, Differential; Drug Therapy, Combination; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intervertebral Disc Displacement; Lens Subluxation; Male; Marfan Syndrome; Myopia; Osteoporosis; Retinal Detachment; Vitamin B 12; Vitamin B 6; Vitamin B Complex | 2005 |
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.
Topics: Allosteric Regulation; Amino Acid Sequence; Cystathionine beta-Synthase; Enzyme Activation; Gene Expression Regulation, Enzymologic; Homocysteine; Homocystinuria; Humans; Kinetics; Mass Spectrometry; Models, Molecular; Molecular Sequence Data; Mutation; Peptide Mapping; Protein Structure, Tertiary | 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 |
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function.
Topics: Adult; Arginine; Creatinine; Cystathionine beta-Synthase; Cystatin C; Cystatins; Female; Homocysteine; Homocystinuria; Humans; Kidney; Male; Middle Aged; Nitrates; Nitrites; Pyridoxine; Renal Insufficiency | 2006 |
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Topics: Alleles; Animals; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Kinetics; Mice; Mice, Transgenic; Mutation; Pyridoxal Phosphate; Pyridoxine; Recombinant Fusion Proteins; Yeasts | 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 |
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Topics: Animals; Base Sequence; Cholesterol; Cystathionine beta-Synthase; Disease Models, Animal; DNA Primers; Endoplasmic Reticulum; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Lipid Metabolism; Liver; Male; Mice; Mice, Knockout; Receptors, Cytoplasmic and Nuclear; RNA, Messenger | 2007 |
Homocysteine increases neuronal damage in hippocampal slices receiving oxygen and glucose deprivation.
Topics: Animals; Brain Ischemia; Cell Death; Glucose; Hippocampus; Homocysteine; Homocystinuria; L-Lactate Dehydrogenase; Male; Nerve Degeneration; Organ Culture Techniques; Oxygen; Rats; Rats, Wistar; Reperfusion Injury | 2006 |
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; China; Chronic Disease; Comorbidity; Disease Progression; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Predictive Value of Tests; Prognosis; Survival Rate | 2006 |
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Topics: Animals; Cell Line; Cystathionine beta-Synthase; Dependovirus; Disease Models, Animal; DNA, Recombinant; Gene Transfer Techniques; Genetic Therapy; Homocysteine; Homocystinuria; Humans; Immunohistochemistry; Mice; Survival Rate | 2006 |
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Topics: Chromatography, Liquid; Cystathionine beta-Synthase; DNA; DNA Methylation; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; S-Adenosylhomocysteine; S-Adenosylmethionine; Sequence Analysis, DNA; Spectrometry, Mass, Electrospray Ionization | 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 |
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment.
Topics: Biomarkers; Cerebral Arteries; Cerebrovascular Disorders; Cognition Disorders; Homocysteine; Homocystinuria; Humans; Models, Neurological; Predictive Value of Tests; Regression Analysis; Risk Factors; Stroke | 2007 |
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Topics: Animals; Cystathionine beta-Synthase; Disease Models, Animal; Homocysteine; Homocystinuria; Methylation; Mice; MicroRNAs | 2007 |
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins | 2007 |
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 |
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 |
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 |
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 |
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Topics: Amino Acids; Amino Acids, Sulfur; Betaine; Cystathionine beta-Synthase; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine; Vitamin B 12 | 1983 |
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency.
Topics: Animals; Blood Proteins; Cystathionine beta-Synthase; Cysteine; Dietary Proteins; Disease Models, Animal; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Male; Protein Binding; Rats; Vitamin B 6 Deficiency | 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 |
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics.
Topics: Adolescent; Adult; Blood Proteins; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Penicillamine; Protein Binding; Pyridoxine | 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 |
Plasma cyst(e)ine in homocyst(e)inemia.
Topics: Blood Proteins; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Protein Binding | 1981 |
A study of cardiovascular risk in heterozygotes for homocystinuria.
Topics: Adult; Aged; Cerebrovascular Disorders; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Myocardial Infarction; Risk | 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 |
Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy--a clue for homocystinuria.
Topics: Adult; Cystathionine beta-Synthase; Cysteine; Female; Fibroblasts; Hair Color; Hair Diseases; Homocysteine; Homocystinuria; Humans; Hyperpigmentation; Pregnancy; Skin; Vitamins | 1995 |
Are patients with homocystinuria being missed?
Topics: Child; Chromatography, High Pressure Liquid; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxal Phosphate | 1995 |
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Copper; Cystathionine beta-Synthase; Drug Interactions; Female; Hair Color; Homocysteine; Homocystinuria; Humans; Hypopigmentation; Melanoma; Monophenol Monooxygenase; Tumor Cells, Cultured | 1995 |
Homocysteine induced endothelial cell toxicity and its protection.
Topics: Arteriosclerosis; Cells, Cultured; Endothelium, Vascular; Free Radical Scavengers; Homocysteine; Homocystinuria; Humans; Hydrogen Peroxide; Models, Biological | 1994 |
A rat vein perfusion model for studying homocysteine induced toxicity.
Topics: Animals; Arteriosclerosis; Ascorbic Acid; Disease Models, Animal; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans; Male; Microscopy, Electron, Scanning; Perfusion; Rats; Rats, Sprague-Dawley | 1994 |
Effect of thiol oxidation and thiol export from erythrocytes on determination of redox status of homocysteine and other thiols in plasma from healthy subjects and patients with cerebral infarction.
Topics: Aged; Cerebral Infarction; Cysteine; Erythrocytes; Female; Homocysteine; Homocystinuria; Humans; Kinetics; Lipid Peroxidation; Male; Middle Aged; Oxidation-Reduction; Reference Values; Sulfhydryl Compounds; Temperature | 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 |
Effects of homocysteine and related compounds on prostacyclin production by cultured human vascular endothelial cells.
Topics: 6-Ketoprostaglandin F1 alpha; Cells, Cultured; Endothelium, Vascular; Epoprostenol; Homocysteine; Homocystinuria; Humans; Radioimmunoassay | 1993 |
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 |
Hyperhomocysteinaemia: a metabolic risk factor for coronary heart disease determined by both genetic and environmental influences?
Topics: Adult; Coronary Disease; Female; Gene Frequency; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Prevalence | 1993 |
[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine].
Topics: Betaine; Child; Child, Preschool; Drug Evaluation; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine | 1993 |
Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease.
Topics: Coronary Angiography; Coronary Artery Disease; Discriminant Analysis; Female; Homocysteine; Homocystinuria; Hot Temperature; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Oxidoreductases Acting on CH-NH Group Donors; Prevalence; Risk Factors | 1993 |
Hyperhomocysteinemia in cyclosporine-treated renal transplant recipients.
Topics: Adult; Aged; Arteriosclerosis; Case-Control Studies; Cross-Sectional Studies; Cyclosporine; Erythrocytes; Female; Folic Acid; Glomerular Filtration Rate; Homocysteine; Homocystinuria; Humans; Kidney Transplantation; Male; Middle Aged; Risk Factors | 1996 |
Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.
Topics: Adult; Biomarkers; Child; Child, Preschool; Collagen; Collagen Type I; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Models, Biological; Osteoporosis; Oxidoreductases Acting on CH-NH Group Donors; Peptide Fragments; Peptides; Procollagen; Protein Processing, Post-Translational; Solubility | 1996 |
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Topics: Arterial Occlusive Diseases; Betaine; Homocysteine; Homocystinuria; Humans; Male; Serine | 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 |
Effect of homocysteine on copper ion-catalyzed, azo compound-initiated, and mononuclear cell-mediated oxidative modification of low density lipoprotein.
Topics: Adolescent; Adult; Amidines; Arteriosclerosis; Azo Compounds; Bepridil; Biphenyl Compounds; Child; Copper; Female; Free Radical Scavengers; Homocysteine; Homocystinuria; Humans; Leukocytes, Mononuclear; Lipid Peroxidation; Lipoproteins, LDL; Male; Middle Aged; Picrates | 1996 |
Betaine for homocystinuria.
Topics: Arteriosclerosis; Betaine; Diarrhea; Gastrointestinal Diseases; Homocysteine; Homocystinuria; Humans; Nausea; Risk Factors | 1997 |
Homocysteine and coronary artery disease.
Topics: Adult; Coronary Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Risk Factors | 1997 |
[Homocysteine, a risk factor of atherosclerosis].
Topics: Amino Acids; Animals; Arteriosclerosis; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans; Predictive Value of Tests; Rabbits; Research Design; Risk Factors; Thrombosis | 1996 |
Irreversible inhibition of lysyl oxidase by homocysteine thiolactone and its selenium and oxygen analogues. Implications for homocystinuria.
Topics: Animals; Cattle; Enzyme Inhibitors; Homocysteine; Homocystinuria; Isotope Labeling; Kinetics; Oxygen; Protein-Lysine 6-Oxidase; Selenium; Spectrum Analysis; Sulfhydryl Compounds; Sulfur Radioisotopes; Swine | 1997 |
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Topics: Adult; Aged; Cystathionine beta-Synthase; Cysteine; Female; Folic Acid; Genetic Carrier Screening; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Vitamin B 12 | 1998 |
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Topics: Adolescent; Adult; Child, Preschool; Cystathionine beta-Synthase; DNA Mutational Analysis; Factor V; Female; Homocysteine; Homocystinuria; Homozygote; Hot Temperature; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Oxidoreductases Acting on CH-NH Group Donors; Point Mutation; Protein Denaturation; Pulmonary Embolism; Risk Factors; Thrombophilia; Thrombophlebitis | 1998 |
Disorders of homocysteine metabolism: from rare genetic defects to common risk factors. Proceedings of an international symposium. Fulda, Germany, 20-22 November 1996.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Homocysteine; Homocystinuria; Humans | 1998 |
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Dose-Response Relationship, Drug; Female; Folic Acid; Gastrointestinal Agents; Genetic Testing; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Pregnancy; Pregnancy Complications; Pyridoxine; Treatment Failure; Treatment Outcome | 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 |
Growth promotion by homocysteine but not by homocysteic acid: a role for excessive growth in homocystinuria or proliferation in hyperhomocysteinemia?
Topics: Adolescent; Adult; Aged; CDC2 Protein Kinase; Cell Division; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinuria; Humans; Male; Middle Aged | 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 |
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.
Topics: Adult; Black People; Child; Female; Folic Acid; Gene Frequency; Genetic Variation; Homocysteine; Homocystinuria; Homozygote; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors; Polymorphism, Genetic; Protein Denaturation; Spinal Dysraphism | 1998 |
Long-term survival of homocystinuria: the first case.
Topics: Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Survivors; Time Factors | 1998 |
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chorionic Villi Sampling; Cobamides; Female; Gestational Age; Homocysteine; Homocystinuria; Humans; Male; Methylmalonic Acid; Pregnancy; Propionates; Tetrahydrofolates; Vitamin B 12 | 1998 |
Evidence of carotid artery wall hypertrophy in homozygous homocystinuria.
Topics: Adolescent; Adult; Carotid Arteries; Child; Child, Preschool; Female; Genetic Carrier Screening; Homocysteine; Homocystinuria; Homozygote; Humans; Hypertrophy; Male; Middle Aged; Ultrasonography | 1998 |
Homocysteine and arteriosclerosis: subclinical and clinical disease associations.
Topics: Adolescent; Adult; Animals; Arteriosclerosis; Child; Child, Preschool; Comorbidity; Folic Acid; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Middle Aged; Prevalence; Primates; Risk Factors; Swine; Swine, Miniature; Thrombophilia | 1999 |
Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
Topics: Catalytic Domain; Cystathionine beta-Synthase; Hemeproteins; Homocysteine; Homocystinuria; Humans; Models, Molecular; Protein Structure, Tertiary; Pyridoxal Phosphate; S-Adenosylmethionine; Sequence Deletion; Suppression, Genetic | 1999 |
The homocysteine question.
Topics: Coronary Disease; Cystine; Homocysteine; Homocystinuria; Humans | 2000 |
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 |
Tissue factor pathway inhibitor levels in patients with homocystinuria.
Topics: Adult; Betaine; Biomarkers; Cystathionine beta-Synthase; Endothelium; Factor VII; Female; Fibrinolytic Agents; Heparin; Homocysteine; Homocystinuria; Homozygote; Humans; Lipoproteins; Male; Protein C; Pyridoxine; Serine Proteinase Inhibitors; Thrombomodulin; Thromboplastin; Vascular Diseases; Vitamin B 12 | 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 |
Homocysteine & heart disease.
Topics: Cardiovascular Diseases; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Vitamin B Complex | 2000 |
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.
Topics: Electroencephalography; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid | 2000 |
Homocysteine and alcoholism.
Topics: Adult; Aged; Alcoholism; Animals; Brain; Ethanol; Excitatory Amino Acids; Female; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Neurons; Neurotoxins; Receptors, N-Methyl-D-Aspartate | 2000 |
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 |
Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency.
Topics: Adolescent; Body Height; Child; Female; Growth; Growth Substances; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Retrospective Studies | 2001 |
A pilot study of homocyst(e)ine levels in essential hypertension: relationship to von Willebrand factor, an index of endothelial damage.
Topics: Adult; Aged; Echocardiography, Doppler; Endothelium, Vascular; Female; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Hypertension; Hypertrophy, Left Ventricular; Male; Middle Aged; Pilot Projects; Prognosis; von Willebrand Factor | 2001 |
Historical aspects and perspectives in homocysteine research.
Topics: History, 20th Century; Homocysteine; Homocystinuria; Humans | 2001 |
[Cerebral venous thrombosis and homocystinuria: case report].
Topics: Adolescent; Cerebral Veins; Homocysteine; Homocystinuria; Humans; Intracranial Embolism and Thrombosis; Intracranial Thrombosis; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male | 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 |
Betaine and homocysteine concentrations in infant formulae and breast milk.
Topics: Animals; Betaine; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant Food; Milk; Milk, Human | 2001 |
Effects of anticoagulant and time of plasma separation on measurement of homocysteine.
Topics: Anticoagulants; Blood Specimen Collection; Cystathionine beta-Synthase; Drug Stability; False Negative Reactions; Fluorescence Polarization Immunoassay; Homocysteine; Homocystinuria; Humans; Plasma; Sodium Fluoride; Time Factors | 2002 |
S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase.
Topics: Chromatography, High Pressure Liquid; Culture Media; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; S-Adenosylhomocysteine; S-Adenosylmethionine; Yeasts | 2002 |
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
Topics: Age of Onset; Brain; Electroencephalography; Epilepsy; Female; Follow-Up Studies; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Sleep; Vitamin B 12; Vitamin B 12 Deficiency; Wakefulness | 2002 |
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 |
Upregulation of smooth muscle cell collagen production by homocysteine-insight into the pathogenesis of homocystinuria.
Topics: Animals; Arteriosclerosis; Catalase; Cell Division; Cells, Cultured; Collagen; Homocysteine; Homocystinuria; Hydrogen Peroxide; Muscle, Smooth, Vascular; Oxidation-Reduction; Rabbits; Reactive Oxygen Species; Up-Regulation | 2002 |
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Topics: Cystathionine beta-Synthase; Cysteine; Cystine; Cystinuria; Disulfides; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Male; Pyridoxine; Time Factors | 1977 |
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 |
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 |
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 |
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Topics: Adult; Aged; Aging; Arteriosclerosis; Cells, Cultured; Cystathionine beta-Synthase; Down Syndrome; Female; Fibroblasts; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Skin | 1992 |
Patients with homocystinuria: high metal concentrations in hair, blood and urine.
Topics: Adult; Animals; Brain; Cysteine; Female; Hair; Homocysteine; Homocystinuria; Humans; Male; Metals; Methylmercury Compounds; Rats; Rats, Wistar; Reference Values; Tissue Distribution | 1992 |
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Topics: Adult; Arteriosclerosis; Carotid Artery Diseases; Evaluation Studies as Topic; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Odds Ratio; Prevalence; Risk Factors; Ultrasonography | 1992 |
Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited.
Topics: Arteriosclerosis; Homocysteine; Homocystinuria; Humans; Infant; Male; Methylmalonic Acid; Methyltransferases | 1992 |
A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians.
Topics: Adult; Aged; Aged, 80 and over; Case-Control Studies; Coronary Disease; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Myocardial Infarction; Physicians; Prospective Studies; Regression Analysis; Risk Factors; United States | 1992 |
Intrauterine growth retardation, perinatal death, and maternal homocysteine levels.
Topics: Abortion, Spontaneous; Female; Fetal Growth Retardation; Homocysteine; Homocystinuria; Humans; Pregnancy; Pregnancy Complications | 1992 |
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 |
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Adult; Cerebrovascular Disorders; Female; Homocysteine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases; Tissue Distribution | 1991 |
Neural-tube defects and derangement of homocysteine metabolism.
Topics: Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Neural Tube Defects; Pregnancy | 1991 |
Plasma homocyst(e)ine levels in men with premature coronary artery disease.
Topics: Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Coronary Angiography; Coronary Disease; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Reference Values; Risk Factors | 1990 |
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 |
Determination of homocysteine, penicillamine, and their symmetrical and mixed disulfides by liquid chromatography with electrochemical detection.
Topics: Chromatography, High Pressure Liquid; Disulfides; Electrochemistry; Electrodes; Homocysteine; Homocystine; Homocystinuria; Humans; Oxidation-Reduction; Penicillamine | 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 |
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Cystathionine beta-Synthase; Heterozygote; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Vascular Diseases; Vitamin B 12; Vitamin B 12 Deficiency | 1988 |
Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria.
Topics: Blood Proteins; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Protein Binding | 1988 |
Sulfur amino acids in maintenance hemodialysis patients.
Topics: Adult; Amino Acids, Sulfur; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Renal Dialysis | 1987 |
Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator.
Topics: Animals; Cattle; Electrophoresis, Polyacrylamide Gel; Endothelial Growth Factors; Factor V; Factor X; Factor Xa; Growth Substances; Homocysteine; Homocystinuria; Humans; Molecular Weight; Prothrombin; Thrombosis; Umbilical Veins | 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 |
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 |
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 |
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 |
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 |
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 |
Inhibition by homocysteine of serine dehydratase and other pyridoxal 5'-phosphate enzymes of the rat through cofactor blockage.
Topics: Alanine Transaminase; Animals; Cysteine; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Liver; Male; Norepinephrine; Penicillamine; Pyridoxal Phosphate; Rats; Spectrophotometry; Stereoisomerism; Tyrosine Transaminase | 1971 |
Unusual sulfur-containing amino acids in the urine of homocystinuric patients: III. Homocysteic acid, homocysteine sulfinic acid, S-(carboxymethylthio) homocysteine, and S-(3-hydroxy-3-carboxy-n-propyl).
Topics: Amino Acids; Amino Acids, Sulfur; Homocysteine; Homocystinuria; Humans; Molecular Conformation; Spectrophotometry, Infrared; Sulfinic Acids | 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 reaction of homocysteine with aldehyde: an explanation of the collagen defects in homocystinuria.
Topics: Aldehydes; Collagen; Homocysteine; Homocystinuria; Humans; Protein Conformation | 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 |
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 |
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 |
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 |
Macromolecular basis for homocystein-induced changes in proteoglycan structure in growth and arteriosclerosis.
Topics: Arteriosclerosis; Cell Line; Cells, Cultured; Contact Inhibition; Cytoplasmic Granules; Growth Hormone; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Macromolecular Substances; Polysaccharides; Pyridoxine; Sulfates | 1972 |
Plasma levels of cystine in homocystinuria.
Topics: Adult; Child; Cysteine; Cystine; Homocysteine; Homocystinuria; Humans | 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 |
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 |
The detection of heterozygotes for homocystinuria by oral loading with L-methionine.
Topics: Administration, Oral; Adult; Cysteine; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine | 1971 |
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 |
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 |
Biochemical response to oral pyridoxine in homocystinuria.
Topics: Homocysteine; Homocystinuria; Humans; Pyridoxine | 1968 |
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 |
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 |
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 |
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 with epilepsy.
Topics: Child; Cystinuria; Electroencephalography; Epilepsy; Homocysteine; Homocystinuria; Humans; Male; Urine | 1966 |
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine | 1966 |
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 |