Page last updated: 2024-08-17

folic acid and CBS Deficiency

folic acid has been researched along with CBS Deficiency in 130 studies

Research

Studies (130)

Timeframe	Studies, this research(%)	All Research%
pre-1990	36 (27.69)	18.7374
1990's	24 (18.46)	18.2507
2000's	32 (24.62)	29.6817
2010's	26 (20.00)	24.3611
2020's	12 (9.23)	2.80

Authors

Authors	Studies
Gambello, MJ; Gonzalez, A; Kožich, V; Li, H; Smith, GH; Sokolová, J	1
Bestwick, CS; Catala, GN; Duthie, SJ; Giovannelli, L; Lendoiro, E; Moyer, MP; Russell, WR; Tortora, K	1
Chen, F; Liu, F; Lv, Q; Wen, T	1
Fu, S; Jia, X; Li, Q; Saleem, K; Sun, W; Xu, L; Zaib, T	1
Florindo, C; Macário, MC; Tavares de Almeida, I; Vieira, D	1
Chaudhry, SH; Gaudet, LM; MacFarlane, AJ; Rennicks White, R; Rodger, M; Smith, GN; Taljaard, M; Walker, MC; Wen, SW	1
Correa, ARE; Gupta, N; Kabra, M; Kaur, R; Thakur, S	1
Bouvier, D; Brailova, M; Minet-Quinard, R; Regnier, A; Sapin, V; Szymanowski, M	1
Jiang, H; Maclean, KN; Mclagan, BM; Phinney, WN; Roede, JR; Stabler, SP	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
Bottiglieri, T; Caudill, MA; Cosín-Tomás, M; Leclerc, D; Luan, Y; Malysheva, OV; Rozen, R; Wasek, B	1
Baltz, JM; Chan, D; Janssen, S; Karahan, G; Lorincz, M; McClatchie, T; Shirane, K; Trasler, J	1
Ancer-Rodríguez, PR; Calvo-Anguiano, G; Calzada-Dávila, M; Campos-Acevedo, LD; González-Peña, SM; Guerrero-Orjuela, LS; Hernández-Almaguer, MD; Lugo-Trampe, JJ; Martínez-de-Villarreal, LE; Saldivar-Rodríguez, D	1
Liu, J; Liu, X; Meng, Q; Peng, Y; Xu, H; Zhao, S; Zhou, N	1
Cabrera, RM; Dong, Y; Finnell, RH; Lei, Y; Ren, A; Wang, L; Yang, N	1
Asif, N; Awan, A; Fatima, S; Hafeez, A; Ijaz, A; Sajid, A	1
Bahous, RH; Bedell, BJ; Caudill, MA; Cosín-Tomás, M; Deng, L; Ho, MK; Kaliman, P; Leclerc, D; Malysheva, O; Pallàs, M; Rozen, R	1
Baumgartner, MR; Huemer, M	1
Arbuckle, TE; MacFarlane, AJ; Page, R; Wong, A	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
Ghosh, PK; Kaur, L; Mukhopadhhyay, R; Puri, M; Sachdeva, MP; Saraswathy, KN; Trivedi, SS; Walia, GK	1
Gros, P; Meadows, DN; Pyzik, M; Rozen, R; Torre, S; Vidal, SM; Wu, Q	1
Kagawa, K; Nakatani, K; Osaka, H; Sasaki, R; Tamura, A; Tomimoto, H	1
Bearden, D; D'Aco, KE; Ficicioglu, C; Hyland, K; Rosenblatt, DS; Watkins, D	1
Dejgaard, K; Deng, L; Leclerc, D; Mazur, A; Nilsson, T; Rozen, R; Wu, Q	1
Cheng, LM; Hsu, TR; Huang, YH; Lin, HY; Lo, MY; Lu, YH; Niu, DM; Wu, TJ	1
Best, A; Caudill, MA; Christensen, KE; Deng, L; Greene, ND; Leung, KY; Lévesque, N; Malysheva, OV; Mikael, LG; Rozen, R; Wu, Q	1
Coitinho, AS; Donida, B; Hammerschimidt, TG; Kolling, J; Mescka, CP; Nogueira, C; Ribas, GS; Scherer, EB; Vanzin, CS; Vargas, CR; Vilarinho, L; Wajner, M; Wyse, AT	1
Baumgartner, MR; Burda, P; Chinnery, PF; Demirkol, M; Dionisi-Vici, C; Dobbelaere, D; Fowler, B; Froese, DS; Gökcay, G; Häberle, J; Huemer, M; Lossos, A; Mengel, E; Morris, AA; Mulder-Bleile, R; Niezen-Koning, KE; Parini, R; Plecko, B; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Suormala, T; Taddeucci, G; Trefz, F; Trejo-Gabriel-Galán, JM; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeev, BB; Zeman, J	1
Akiyama, M; Akiyama, T; Imai, K; Kanamaru, K; Kobayashi, K; Kobayashi, Y; Kuribayashi, M; Sakakibara, T; Shiokawa, T; Tada, H; Toda, S; Tohyama, J; Yoshinaga, H	1
Bahous, RH; Bedell, BJ; Caudill, MA; Cosín-Tomás, M; Deng, L; Greene, NDE; Ho, MK; Jadavji, NM; Kaliman, P; Leung, KY; Lu, J; Malysheva, O; Pallàs, M; Rozen, R	1
Azzabi, S; Barhoumi, A; Ben Hassine, L; Chaabouni, H; Chérif, E; Kaabachi, N; Khalfallah, N; Kooli, C; Mrad, R; Omar, S	1
Aguirre Errasti, C; Egurbide Arberas, MV; Martínez Berriotxoa, A	1
Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP	1
Angelillo-Scherrer, A; Bachmann, C; Ballhausen, D; Bonafé, L; Cairoli, A; Michel, P; Novy, J	1
Blumkin, E; Galron, D; Golan, HM; Levav-Rabkin, T	1
Brunel-Guitton, C; Costa, T; Lambert, M; Mitchell, GA	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
Stanger, O; Wonisch, W	1
Basili, S; Cerasa, L; Ciabattoni, G; Davì, G; Dragani, A; Falco, A; Lattanzio, S; Patrono, C; Rolandi, G; Santilli, F	1
Caudill, M; Jiang, X; Mikael, LG; Pancer, J; Rozen, R; Wu, Q	1
Fletcher, J; Gaustadnes, M; Kraus, JP; McGill, J; Oliveriusova, J; Wilcken, B; Wilcken, DE	1
Bailey, RL; Burton, KJ; Burton, MJ; Chuka-Okosa, CM	1
Bodamer, OA; Smith, DL	1
Fowler, B; Kozich, V; Pristoupilová, K; Suormala, T; Zavad'áková, P; Zavadakova, P; Zeman, J	1
Kagan-Ponomarev, MIa	1
Dewan, P; Dua, T; Gomber, S	1
Johnson, DA; Kirk, JM; Minns, RA; Sandercock, PA; Tallur, KK	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
McDowell, IF; Moat, SJ	1
Eskes, TK	1
Alscher, DM; Benzinger, P	1
Law, M; Morris, JK; Wald, DS; Wald, NJ	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
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
Komrower, GM	1
Finkelstein, JD; Mudd, SH	1
Cooper, BA; Harpey, JP; Lafourcade, J; Le Moël, G; Rosenblatt, DS; Roy, C	1
Benevenga, NJ; Berlow, S; Smolin, LA	1
Boers, GH; Janssen, MJ; Stehouwer, CD; van den Berg, M	1
Baumgartner, R; Egbring, R; Fowler, B; Krauss, G; Krumpholz, B; Lerch, L; Rohner, I; Schienle, HW; Seitz, R; Willenbockel, U	1
Boers, GH	2
Nakayasu, H; Shimomura, T; Takahashi, K; Takenaka, T; Urakami, K	1
Cabello Tomás, ML; Dalmau Serra, J; García Gómez, AM; Montero Brens, C; Rodes Monegal, M; Vilaseca Busca, A	1
Motulsky, AG	1
Jacobsen, DW; Mayer, EL; Robinson, K	1
Arnadottir, M; Hultberg, B; Nilsson-Ehle, P; Thysell, H; Vladov, V	1
Hamano, H; Nagayama, M; Nanba, A; Shinohara, Y; Takizawa, S	1
Baumgartner, RN; Garry, PJ; Koehler, KM; Pareo-Tubbeh, SL; Romero, LJ	1
Futterman, LG; Lemberg, L	1
Fowler, B; Lindemans, J; Rosenblatt, DS; Schutgens, RB; Smit, GP	1
Boddie, AM; Coates, RJ; Dembure, PP; Elsas, LJ; Pasquali, M; Steen, MT; Sullivan, KM	1
Bridge, C; Till, J; Walter, JH; White, FJ; Wraith, JE	1
Christensen, B; Rozen, R; Sibani, S; Tran, P; Weisberg, I	1
Wilcken, B; Wilcken, DE	1
Cattaneo, M	1
Bostom, AG; Selhub, J	1
Blom, HJ; Boers, GH; Cruysberg, JR; Kluijtmans, LA; Kraus, JP; Trijbels, FJ; van den Heuvel, LP	1
Chapelle, JP; Gielen, J; Lutteri, L	1
Alpert, MA	1
Brattström, L; Wilcken, DE	1
Beresford, SA; Refsum, H; Ueland, PM; Vollset, SE	1
Makris, M	1
Bassan, H; Fattal-Valevski, A; Gutman, A; Harel, S; Korman, SH; Lerman-Sagie, T	1
Rozen, R	1
Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S	1
Barry-Kinsella, C; Naughten, ER; Yap, S	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
Boers, GH; Brenton, DP; Howard, PM; Lee, PJ; Naughten, ER; Walter, JH; Wilcken, B; Wilcken, DE; Yap, S	1
Furukawa, K; Ishida, S; Isotani, H; Kuhara, T	1
al-Essa, MA; Ozand, PT; Rashed, MS	1
Turner, G; Wilcken, B	1
Woolf, LI	1
Cooper, BA	1
Diamond, E; Hruby, M; Justice, P; Weiss, EB; Wong, PW	1
Piccardo, MG; Vico, L	1
Finkelstein, JD; Freeman, JM; Mudd, SH	1
Baldessarini, RJ	1
Brattström, L; Hultberg, B; Israelsson, B; Lagerstedt, C; Tengborn, L	1
Besana, C; Capoferri, C	1
Coccheri, S; Palareti, G	1
Biasetti, S; Bonetti, G; Bracco, G; Ferraris, S; Ponzone, A	1
Abou-Saleh, MT; Coppen, A	1
Matalon, R; Michals, K; Murphy, JV; Thome, LM	1
Dudman, NP; Tyrrell, PA; Wilcken, DE	1
Baumgartner, ER; Kusano, G; Stokstad, EL; Watson, JE; Wick, SH	1
Sviatkina, OB; Vel'tishchev, IuE	1
Turner, B; Wilcken, B	1
Carson, NA; Ritchie, JW	1
Brandt, NJ; Hilden, M; Nilsson, IM; Schonheyder, F	1
Finkelstein, JD; Freeman, JM; Mudd, SH; Shih, VE; Uhlendorf, BW	1
Gaull, GE	1
Barness, LA; Morrow, G	1
Carson, NA	1
Fenichel, GM	1
Sinclair, S; Verma, IC	1
Goodman, SI; Hammond, KB; Moe, PG; Mudd, SH; Uhlendorf, BW	1
Bensch, K; Hagberg, B; Hambraeus, L	1
Arakawa, T; Higashi, O; Karita, M; Narisawa, K; Yoshida, T	1
Baugh, CM; Butterworth, CE; Krumdieck, CL	1
Carey, MC; Fennelly, JJ; FitzGerald, O	1
Coryell, ME; Findley, JK; Hall, WK; Hollowell, JG; Thevaos, TG	1
Carré, IJ; Carson, NA	1

Reviews

33 review(s) available for folic acid and CBS Deficiency

Article	Year
Folate, genomic stability and colon cancer: The use of single cell gel electrophoresis in assessing the impact of folate in vitro, in vivo and in human biomonitoring. Mutation research. Genetic toxicology and environmental mutagenesis, 2019, Volume: 843 Topics: Biological Monitoring; Cell Line; Colonic Neoplasms; Comet Assay; DNA Breaks; DNA Methylation; DNA Repair; DNA Replication; Folic Acid; Folic Acid Deficiency; Genomic Instability; Genotype; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Risk; Single-Cell Analysis; Uracil	2019
Associations between Folate Metabolism Enzyme Polymorphisms and Lung Cancer: A Meta-Analysis. Nutrition and cancer, 2020, Volume: 72, Issue:7 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Aged; Alleles; Asian People; Female; Ferredoxin-NADP Reductase; Folic Acid; Genetic Association Studies; Homocystinuria; Humans; Lung Neoplasms; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle Spasticity; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Psychotic Disorders; Risk Factors; Smoking	2020
SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis. Bioscience reports, 2020, 03-27, Volume: 40, Issue:3 Topics: Asian People; Brain; Case-Control Studies; China; Cleft Lip; Cleft Palate; Ferredoxin-NADP Reductase; Folic Acid; Gene Frequency; Genetic Predisposition to Disease; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Polymorphism, Single Nucleotide; Psychotic Disorders; Risk Factors	2020
The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4 Topics: Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant, Newborn; Metabolic Networks and Pathways; Methylenetetrahydrofolate Dehydrogenase (NADP); Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Vitamin B 12; Vitamin B 12 Deficiency	2019
[Present role of homocysteine in clinical medicine]. Medicina clinica, 2009, Oct-03, Volume: 133, Issue:12 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
Enzymatic and non-enzymatic antioxidative effects of folic acid and its reduced derivates. Sub-cellular biochemistry, 2012, Volume: 56 Topics: Animals; Antioxidants; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Lipid Peroxidation; Nitric Oxide Synthase Type III; Oxidation-Reduction; Oxidative Stress	2012
[Homocysteine: why is it harmful?]. Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery, 2004, Volume: 10, Issue:1 Topics: Adenosine; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; Vitamin B Complex	2004
Homocysteine and endothelial function in human studies. Seminars in vascular medicine, 2005, Volume: 5, Issue:2 Topics: Blood Flow Velocity; Endothelium, Vascular; Folic Acid; Hematinics; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Vascular Diseases; Vasodilation	2005
Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature. European journal of obstetrics, gynecology, and reproductive biology, 2006, Feb-01, Volume: 124, Issue:2 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-lowering trials for prevention of cardiovascular events: a review of the design and power of the large randomized trials. American heart journal, 2006, Volume: 151, Issue:2 Topics: Cardiovascular Diseases; Folic Acid; Homocysteine; Homocystinuria; Humans; Kidney Diseases; Myocardial Infarction; Randomized Controlled Trials as Topic; Stroke; Vitamin B Complex	2006
Folic acid, homocysteine, and cardiovascular disease: judging causality in the face of inconclusive trial evidence. BMJ (Clinical research ed.), 2006, Nov-25, Volume: 333, Issue:7578 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?]. Giornale italiano di cardiologia (2006), 2007, Volume: 8, Issue:3 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
[Cystathionine betasynthase and MTHFR deficiencies in adults]. Revue neurologique, 2007, Volume: 163, Issue:10 Topics: Animals; Folic Acid; Homocysteine; Homocystinuria; Humans; Magnetic Resonance Imaging; Nervous System Diseases; Tetrahydrofolate Dehydrogenase	2007
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure? The Netherlands journal of medicine, 1995, Volume: 46, Issue:5 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. The Netherlands journal of medicine, 1994, Volume: 45, Issue:1 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. American journal of human genetics, 1996, Volume: 58, Issue:1 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 and coronary atherosclerosis. Journal of the American College of Cardiology, 1996, Mar-01, Volume: 27, Issue:3 Topics: Coronary Artery Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Pyridoxine; Risk Factors; Vitamin B 12	1996
Folate nutrition and older adults: challenges and opportunities. Journal of the American Dietetic Association, 1997, Volume: 97, Issue:2 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
B vitamins and homocysteine in cardiovascular disease and aging. Annals of the New York Academy of Sciences, 1998, Nov-20, Volume: 854 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. Thrombosis and haemostasis, 1999, Volume: 81, Issue:2 Topics: Adult; Aged; Animals; Arteriosclerosis; Avitaminosis; Case-Control Studies; Clinical Trials as Topic; Cohort Studies; Cross-Sectional Studies; Cystathionine beta-Synthase; Female; Folic Acid; Gene Frequency; Homocysteine; Homocystinuria; Hormone Replacement Therapy; Humans; Hyperhomocysteinemia; Male; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle, Smooth, Vascular; Oxidoreductases Acting on CH-NH Group Donors; Prevalence; Primates; Prospective Studies; Pyridoxine; Risk Factors; Smoking; Tamoxifen; Thrombophilia; Thrombosis; Vitamin B 12	1999
[Homocysteine and cardiovascular risk]. Revue medicale de Liege, 1999, Volume: 54, Issue:6 Topics: Arteriosclerosis; Cardiovascular Diseases; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; Pyridoxine; Risk Factors; Vitamin B 12	1999
Homocyst(e)ine, atherosclerosis, and thrombosis. Southern medical journal, 1999, Volume: 92, Issue:9 Topics: Adult; Aged; Arteriosclerosis; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Middle Aged; Thrombosis	1999
Homocysteine and cardiovascular disease: cause or effect? The American journal of clinical nutrition, 2000, Volume: 72, Issue:2 Topics: Cardiovascular Diseases; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Kidney; Kidney Diseases	2000
The controversy over homocysteine and cardiovascular risk. The American journal of clinical nutrition, 2000, Volume: 72, Issue:2 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. Clinical and laboratory haematology, 2000, Volume: 22, Issue:3 Topics: Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Pregnancy; Risk Factors; Thrombosis	2000
Genetic modulation of homocysteinemia. Seminars in thrombosis and hemostasis, 2000, Volume: 26, Issue:3 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
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. Seminars in thrombosis and hemostasis, 2000, Volume: 26, Issue:3 Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Cohort Studies; Cystine; Drug Resistance; Female; Folic Acid; Follow-Up Studies; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant; Ireland; Male; Methionine; Middle Aged; Netherlands; Pyridoxine; Risk; Risk Factors; Thrombophilia; Vascular Diseases; Vitamin B 12	2000
[From gene to disease; from homocysteine to hyperhomocysteinemia]. Nederlands tijdschrift voor geneeskunde, 2001, May-19, Volume: 145, Issue:20 Topics: Cystathionine beta-Synthase; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Hyperhomocysteinemia; Methionine; Mutation; Risk Factors; Vascular Diseases	2001
Folate, homocysteine, endothelial function and cardiovascular disease. What is the link? Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2001, Volume: 55, Issue:8 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
The dietary treatment of inborn errors of metabolism. The Proceedings of the Nutrition Society, 1976, Volume: 35, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; Galactosemias; Glutamate Decarboxylase; Homocystinuria; Humans; Infant; Infant, Newborn; Lactose Intolerance; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Phenylketonurias; Pregnancy; Vitamin B 12	1976
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood. Clinics in haematology, 1976, Volume: 5, Issue:3 Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Biological Transport; Bone Marrow; Bone Marrow Cells; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Orotic Acid; Phenylketonurias; Tetrahydrofolate Dehydrogenase; Transcobalamins; Vitamin B 12	1976
The biology of folate in depression: implications for nutritional hypotheses of the psychoses. Journal of psychiatric research, 1986, Volume: 20, Issue:2 Topics: Anorexia Nervosa; Biogenic Amines; Brain; Depressive Disorder; Diet; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Models, Theoretical; Pellagra; Pterins; S-Adenosylmethionine; Schizophrenia; Tryptophan; Vitamin B 12 Deficiency	1986
[Hereditary anomalies of methionine metabolism in children]. Pediatriia, 1972, Volume: 51, Issue:4 Topics: Age Factors; Child; Flatfoot; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Kyphosis; Marfan Syndrome; Metabolism, Inborn Errors; Methionine; Scoliosis	1972

Trials

1 trial(s) available for folic acid and CBS Deficiency

Article	Year
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arteriosclerosis, thrombosis, and vascular biology, 2001, Volume: 21, Issue:12 Topics: Adolescent; Adult; Aged; Betaine; Cardiovascular Diseases; Child; Child, Preschool; Comorbidity; Drug Therapy, Combination; Folic Acid; Follow-Up Studies; Homocystinuria; Humans; Middle Aged; Pyridoxine; Risk Assessment	2001

Article

Year

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.

Arteriosclerosis, thrombosis, and vascular biology, 2001, Volume: 21, Issue:12

Topics: Adolescent; Adult; Aged; Betaine; Cardiovascular Diseases; Child; Child, Preschool; Comorbidity; Drug Therapy, Combination; Folic Acid; Follow-Up Studies; Homocystinuria; Humans; Middle Aged; Pyridoxine; Risk Assessment

2001

Other Studies

96 other study(ies) available for folic acid and CBS Deficiency

Article	Year
Elevated homocysteine levels: What inborn errors of metabolism might we be missing? American journal of medical genetics. Part A, 2023, Volume: 191, Issue:1 Topics: Adult; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Metabolism, Inborn Errors; Retrospective Studies; Vitamin B 12	2023
Adult-onset methylenetetrahydrofolate reductase deficiency. BMJ case reports, 2020, Mar-10, Volume: 13, Issue:3 Topics: Age of Onset; Betaine; Dysarthria; Folic Acid; Gait Ataxia; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Tremor; Vitamin B 12; Young Adult	2020
The determinants of maternal homocysteine in pregnancy: findings from the Ottawa and Kingston Birth Cohort. Public health nutrition, 2020, Volume: 23, Issue:17 Topics: Canada; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Pregnancy	2020
Methylene Tetrahydrofolate Reductase Deficiency. Indian journal of pediatrics, 2020, Volume: 87, Issue:11 Topics: Folic Acid; Homocysteine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders	2020
[Remethylation disorders: about two cases]. Annales de biologie clinique, 2020, Dec-01, Volume: 78, Issue:6 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
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. Molecular genetics and metabolism, 2021, Volume: 132, Issue:2 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
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4 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
Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes. Molecular nutrition & food research, 2021, Volume: 65, Issue:14 Topics: Animals; Dietary Supplements; DNA Methylation; Female; Folic Acid; Gene Expression; Homocystinuria; Liver; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred C57BL; Muscle Spasticity; Phthalic Acids; Placenta; Pregnancy; Psychotic Disorders; S-Adenosylmethionine; Sex Factors; Transcriptome	2021
Paternal MTHFR deficiency leads to hypomethylation of young retrotransposons and reproductive decline across two successive generations. Development (Cambridge, England), 2021, 07-01, Volume: 148, Issue:13 Topics: Animals; DNA Methylation; Epigenomics; Fathers; Female; Folic Acid; Germ Cells; Homocystinuria; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred C57BL; Muscle Spasticity; Psychotic Disorders; Reproduction; Retroelements; Spermatozoa	2021
Maternal Folic Acid Intake and Methylation Status of Genes Associated with Ventricular Septal Defects in Children: Case-Control Study. Nutrients, 2021, Jun-17, Volume: 13, Issue:6 Topics: Case-Control Studies; Child; Diet; Dietary Supplements; DNA Methylation; Epigenesis, Genetic; Female; Folic Acid; Genetic Association Studies; Genetic Predisposition to Disease; Heart Defects, Congenital; Heart Septal Defects, Ventricular; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Pregnancy; Prospective Studies; Psychotic Disorders	2021
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. Orphanet journal of rare diseases, 2017, 03-21, Volume: 12, Issue:1 Topics: Betaine; Child; Child, Preschool; Female; Folic Acid; Homocystinuria; Humans; Infant; Lung Diseases; Male; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B 6	2017
Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies. Birth defects research, 2018, 07-17, Volume: 110, Issue:12 Topics: Adult; Autoantibodies; Case-Control Studies; Female; Folate Receptors, GPI-Anchored; Folic Acid; Genetic Variation; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Neural Tube Defects; Polymorphism, Single Nucleotide; Pregnancy; Psychotic Disorders	2018
Classical Homocystinuria in a Juvenile Patient. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018, Volume: 28, Issue:6 Topics: Child, Preschool; Chromatography, Ion Exchange; Cystathionine beta-Synthase; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine; Treatment Outcome; Vitamin B 12	2018
Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency. Molecular neurobiology, 2019, Volume: 56, Issue:6 Topics: Aging; Amyloid beta-Peptides; Animals; Anxiety; Brain; Cell Survival; Cerebral Cortex; Choline; CpG Islands; Diet; DNA Methylation; Epigenesis, Genetic; Folic Acid; Glutamic Acid; Homocystinuria; Liver; Male; Memory Disorders; Memory, Short-Term; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice, Inbred BALB C; Muscle Spasticity; Nerve Growth Factors; Neurons; Phospholipids; Psychotic Disorders; RNA, Messenger; S-Adenosylmethionine; Synaptic Transmission	2019
The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women. The American journal of clinical nutrition, 2019, 08-01, Volume: 110, Issue:2 Topics: Adult; Canada; Cohort Studies; Female; Folic Acid; Gene Expression Regulation; Genotype; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Milk, Human; Muscle Spasticity; Polymorphism, Single Nucleotide; Pregnancy; Prospective Studies; Psychotic Disorders	2019
Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents. Pathobiology : journal of immunopathology, molecular and cellular biology, 2019, Volume: 86, Issue:4 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
MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women. Journal of perinatal medicine, 2013, Sep-01, Volume: 41, Issue:5 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
Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant. Human mutation, 2014, Volume: 35, Issue:5 Topics: Animals; Brain; Folic Acid; Homocystinuria; Humans; Interferon-gamma; Interleukin-10; Malaria, Cerebral; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Muscle Spasticity; Plasmodium; Polymorphism, Single Nucleotide; Psychotic Disorders; Selection, Genetic	2014
[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid]. Rinsho shinkeigaku = Clinical neurology, 2014, Volume: 54, Issue:3 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
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy. Pediatric neurology, 2014, Volume: 51, Issue:2 Topics: Adolescent; Betaine; Female; Folic Acid; Homocystinuria; Humans; Lipotropic Agents; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Myoclonic Epilepsies, Progressive; Psychotic Disorders; Vitamin B Complex	2014
Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency. Proteomics, 2014, Volume: 14, Issue:21-22 Topics: Animals; Carcinogenesis; Diet; Disease Models, Animal; Female; Folic Acid; Homocystinuria; Intestinal Mucosa; Intestinal Neoplasms; Intestines; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred BALB C; Muscle Spasticity; Proteome; Proteomics; Psychotic Disorders	2014
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. Clinical nutrition (Edinburgh, Scotland), 2015, Volume: 34, Issue:6 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
High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice. The American journal of clinical nutrition, 2015, Volume: 101, Issue:3 Topics: Animals; Dietary Supplements; Enzyme Inhibitors; Folic Acid; Gene Expression Regulation; Heterozygote; Homocystinuria; Lipid Metabolism; Lipogenesis; Liver; Male; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice, Inbred BALB C; Mice, Mutant Strains; Muscle Spasticity; Mutation; Non-alcoholic Fatty Liver Disease; Organ Size; Psychotic Disorders; Specific Pathogen-Free Organisms	2015
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance. Cellular and molecular neurobiology, 2015, Volume: 35, Issue:6 Topics: Adolescent; Adult; Aryldialkylphosphatase; Butyrylcholinesterase; Case-Control Studies; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Folic Acid; Homocystinuria; Humans; Lipids; Male; Oxidants; Oxidative Stress; Vitamin B 12; Young Adult	2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1 Topics: Ataxia; Betaine; Child; Female; Folic Acid; Genetic Association Studies; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Phenotype; Psychotic Disorders; Retrospective Studies; Spinal Cord Diseases; Vitamin B 12	2016
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism. Clinica chimica acta; international journal of clinical chemistry, 2016, Sep-01, Volume: 460 Topics: Child; Child, Preschool; Chromatography, High Pressure Liquid; Clinical Chemistry Tests; Dietary Supplements; Folate Receptor 1; Folic Acid; Homocystinuria; Humans; Infant; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Psychotic Disorders; Reference Values; Tetrahydrofolates	2016
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring. Human molecular genetics, 2017, 03-01, Volume: 26, Issue:5 Topics: Acetylcholine; Animals; Diet; DNA (Cytosine-5-)-Methyltransferases; DNA Methyltransferase 3A; Female; Folic Acid; Homocystinuria; Liver; Memory Disorders; Memory, Short-Term; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Muscle Spasticity; Pregnancy; Psychotic Disorders	2017
[Late revelation of homocysteinuria: clinical, biological and progressive aspects]. Pathologie-biologie, 2009, Volume: 57, Issue:5 Topics: Abnormalities, Multiple; Adult; Consanguinity; Cystathionine beta-Synthase; Epilepsies, Partial; Folic Acid; Frontal Lobe; Homocystinuria; Humans; Hyperhomocysteinemia; Lens Subluxation; Male; Thrombophlebitis; Vitamin B 6	2009
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Molecular genetics and metabolism, 2009, Volume: 98, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Demography; Diagnostic Imaging; Female; Folic Acid; Heart Diseases; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Prevalence; Ultrasonography; United States; Young Adult	2009
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency. Thrombosis and haemostasis, 2010, Volume: 103, Issue:4 Topics: Adult; Anticoagulants; Anticonvulsants; Epilepsy; Female; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; Magnetic Resonance Imaging; Postpartum Period; Pregnancy; Pregnancy Complications, Cardiovascular; Pyridoxine; Recurrence; Sinus Thrombosis, Intracranial; Thrombolytic Therapy; Treatment Outcome; Vitamin B Complex; Vitamin K	2010
Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. Behavioural brain research, 2011, Jan-20, Volume: 216, Issue:2 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
Treatment of cobalamin C (cblC) deficiency during pregnancy. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Amino Acid Metabolism, Inborn Errors; Aspirin; Carnitine; Carrier Proteins; Cells, Cultured; Combined Modality Therapy; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Folic Acid; Genetic Predisposition to Disease; Homocystinuria; Humans; Hydroxocobalamin; Live Birth; Male; Mutation; Oxidoreductases; Phenotype; Platelet Aggregation Inhibitors; Pregnancy; Pregnancy Complications; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex; Young Adult	2010
The effect of homocysteine on the clinical outcomes of ventilated patients with severe sepsis. Minerva anestesiologica, 2010, Volume: 76, Issue:10 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
Oxidative stress and platelet activation in subjects with moderate hyperhomocysteinaemia due to MTHFR 677 C→T polymorphism. Thrombosis and haemostasis, 2012, Volume: 108, Issue:3 Topics: Biomarkers; Cardiovascular Diseases; Comorbidity; Cross-Sectional Studies; Diabetes Mellitus; Dinoprost; Dyslipidemias; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; Lipid Peroxidation; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Oxidative Stress; Platelet Activation; Polymorphism, Single Nucleotide; Psychotic Disorders; Smoking; Thromboxane B2	2012
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. Molecular nutrition & food research, 2013, Volume: 57, Issue:4 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
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Human mutation, 2002, Volume: 20, Issue:2 Topics: Adolescent; Adult; Australia; Blotting, Western; Child; Child, Preschool; Cystathionine beta-Synthase; DNA Mutational Analysis; Drug Administration Schedule; Female; Folic Acid; Genetic Carrier Screening; Genotype; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Mutation, Missense; Phenotype; Pyridoxine	2002
Plummeting lenses in the TB clinic. Lancet (London, England), 2002, Jul-13, Volume: 360, Issue:9327 Topics: Antitubercular Agents; Child; Folic Acid; Homocystinuria; Humans; Isoniazid; Lens Subluxation; Male; Pyridoxine; Tuberculosis, Pulmonary	2002
Practical management of combined methylmalonicaciduria and homocystinuria. Journal of child neurology, 2002, Volume: 17, Issue:5 Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal Agents; Hematinics; Homocystinuria; Humans; Hydrocephalus; Hydroxocobalamin; Injections, Intramuscular; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Microcephaly; Seizures	2002
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:6 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
Homocystinuria: a rare cause of megaloblastic anemia. Indian pediatrics, 2004, Volume: 41, Issue:9 Topics: Anemia, Megaloblastic; Child; Drug Therapy, Combination; Folic Acid; Homocystinuria; Humans; Male; Pyridoxine	2004
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. Developmental medicine and child neurology, 2005, Volume: 47, Issue:1 Topics: Activities of Daily Living; Adolescent; Adult; Betaine; Brain; Drug Therapy, Combination; Female; Folic Acid; Follow-Up Studies; Homocystinuria; Humans; Intelligence; Leukoencephalopathy, Progressive Multifocal; Long-Term Care; Magnetic Resonance Imaging; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Neurologic Examination; Treatment Outcome	2005
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Human mutation, 2005, Volume: 25, Issue:3 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
[Untreated homocystinuria in adulthood]. Deutsche medizinische Wochenschrift (1946), 2005, Oct-28, Volume: 130, Issue:43 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
Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects. The American journal of clinical nutrition, 2007, Volume: 85, Issue:4 Topics: Betaine; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Methionine; Methylation; Neural Tube Defects; Nutritional Physiological Phenomena; S-Adenosylmethionine; Tetrahydrofolates; Vitamin B Complex	2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 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
Dietary treatment of homocystinuria. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Child, Preschool; Diet Therapy; Female; Folic Acid; Growth; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Quaternary Ammonium Compounds	1967
Trans-sulfuration in mammals. The methionine-sparing effect of cystine. The Journal of biological chemistry, 1967, Mar-10, Volume: 242, Issue:5 Topics: Cystine; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Methionine; Transferases	1967
Folate-responsive homocystinuria and "schizophrenia'. Nutrition reviews, 1982, Volume: 40, Issue:8 Topics: Adolescent; Female; Folic Acid; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Dehydrogenase (NADP); Models, Biological; Oxidoreductases; Schizophrenia	1982
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. The Journal of pediatrics, 1981, Volume: 98, Issue:2 Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Alcohol Oxidoreductases; Amino Acids; Drug Therapy, Combination; Female; Folic Acid; Homocystinuria; Humans; Infant; Leucovorin; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Pyridoxine; Skin; Tetrahydrofolates; Vitamin B 12	1981
The use of betaine for the treatment of homocystinuria. The Journal of pediatrics, 1981, Volume: 99, Issue:3 Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine	1981
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, 1994, Volume: 5, Issue:6 Topics: Adult; Antithrombin III Deficiency; Biomarkers; Blood Coagulation; Blood Coagulation Factors; Cystathionine beta-Synthase; Factor IX; Factor VII Deficiency; Factor X; Factor XI; Female; Folic Acid; Homocystinuria; Humans; Male; Pyridoxine; Thromboembolism	1994
[Effect of folic acid for treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency]. Rinsho shinkeigaku = Clinical neurology, 1993, Volume: 33, Issue:11 Topics: Adolescent; Electroencephalography; Evoked Potentials, Somatosensory; Folic Acid; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors	1993
[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine]. Anales espanoles de pediatria, 1993, Volume: 39, Issue:1 Topics: Betaine; Child; Child, Preschool; Drug Evaluation; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine	1993
Hyperhomocysteinemia in cyclosporine-treated renal transplant recipients. Transplantation, 1996, Feb-15, Volume: 61, Issue:3 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
[An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters]. Rinsho shinkeigaku = Clinical neurology, 1996, Volume: 36, Issue:2 Topics: Adult; Antithrombin III; Blood Coagulation; Fibrin Fibrinogen Degradation Products; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Paraplegia; Peptide Hydrolases	1996
Homocysteine and coronary artery disease. American journal of critical care : an official publication, American Association of Critical-Care Nurses, 1997, Volume: 6, Issue:1 Topics: Adult; Coronary Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Male; Risk Factors	1997
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Megaloblastic; Erythrocyte Indices; Female; Fibroblasts; Folic Acid; Homocystinuria; Humans; Infant; Vitamin B 12	1997
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate. Metabolism: clinical and experimental, 1998, Volume: 47, Issue:2 Topics: Adult; Aged; Cystathionine beta-Synthase; Cysteine; Female; Folic Acid; Genetic Carrier Screening; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Vitamin B 12	1998
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years. European journal of pediatrics, 1998, Volume: 157 Suppl 2 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
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Molecular genetics and metabolism, 1998, Volume: 64, Issue:3 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
Homocysteine and arteriosclerosis: subclinical and clinical disease associations. Circulation, 1999, May-11, Volume: 99, Issue:18 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
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. American journal of human genetics, 1999, Volume: 65, Issue:1 Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Fibroblasts; Folic Acid; Genotype; Homocystinuria; Humans; Male; Middle Aged; Mutation; Netherlands; Phenotype; Pyridoxine	1999
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis. Journal of child neurology, 2000, Volume: 15, Issue:8 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
Maternal pyridoxine non-responsive homocystinuria: the role of dietary treatment and anticoagulation. BJOG : an international journal of obstetrics and gynaecology, 2001, Volume: 108, Issue:4 Topics: Adult; Anticoagulants; Female; Fibrinogen; Folic Acid; Heparin; Homocystinuria; Humans; Methionine; Pregnancy; Pregnancy Complications; Vitamin B 12	2001
CblC/D defect combined with haemodynamically highly relevant VSD. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4 Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Lactic Acid; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid	2001
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia. Journal of internal medicine, 2001, Volume: 250, Issue:5 Topics: Adult; Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Male; Vitamin B 12; Vitamin B 12 Deficiency	2001
Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6 Topics: Betaine; Child; Child, Preschool; Combined Modality Therapy; Consanguinity; Drug Monitoring; Drug Therapy, Combination; Female; Folic Acid; Homocystinuria; Humans; Infant; Male; Methionine; Pedigree; Pyridoxine; Saudi Arabia; Treatment Outcome	1999
Homocystinuria in New South Wales. Archives of disease in childhood, 1978, Volume: 53, Issue:3 Topics: Adolescent; Adult; Australia; Bone and Bones; Child; Child, Preschool; Ectopia Lentis; Female; Folic Acid; Homocystinuria; Humans; Infant; Intellectual Disability; Male; Pyridoxine; Thrombosis	1978
Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency. Pediatrics, 1977, Volume: 59, Issue:5 Topics: Adolescent; Child; Deficiency Diseases; Diagnosis, Differential; Female; Folic Acid; Homocystinuria; Humans; Methylenetetrahydrofolate Dehydrogenase (NADP); Oxidoreductases	1977
[Various clinical and therapeutic aspects of homocystinuria]. La Clinica terapeutica, 1977, Aug-31, Volume: 82, Issue:4 Topics: Folic Acid; Homocystinuria; Humans; Pyridoxine; Vitamin B 12	1977
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. The New England journal of medicine, 1975, Mar-06, Volume: 292, Issue:10 Topics: Adolescent; Alcohol Oxidoreductases; Diagnosis, Differential; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Schizophrenia; Tetrahydrofolates; Vitamin B 12	1975
Editorial: Metabolic hypotheses in schizophrenia. The New England journal of medicine, 1975, Mar-06, Volume: 292, Issue:10 Topics: Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Psychotic Disorders; Schizophrenia	1975
Plasma homocysteine in venous thromboembolism. Haemostasis, 1991, Volume: 21, Issue:1 Topics: Adult; Creatinine; Cystathionine beta-Synthase; Fasting; Female; Folic Acid; Genetic Carrier Screening; Genotype; Homocysteine; Homocystinuria; Humans; Male; Methionine; Thromboembolism; Vitamin B 12	1991
Delayed diagnosis of homocystinuria in a myopic. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 1991, Volume: 229, Issue:1 Topics: Adult; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Myopia; Pyridoxine	1991
Lowered antithrombin III activity and other clotting changes in homocystinuria: effects of a pyridoxine-folate regimen. Haemostasis, 1989, Volume: 19 Suppl 1 Topics: Adolescent; Antithrombin III; Blood Coagulation Disorders; Child, Preschool; Female; Folic Acid; Homocystinuria; Humans; Male; Pyridoxine	1989
Folates and homocystinuria. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Cystathionine beta-Synthase; Folic Acid; Homocystinuria; Humans	1988
Folic acid responsive rages, seizures and homocystinuria. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2 Topics: Anger; Child Behavior Disorders; Female; Folic Acid; Homocystinuria; Humans; Male; Methionine; Rage; Seizures	1985
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. Metabolism: clinical and experimental, 1985, Volume: 34, Issue:12 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
Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies. Pediatric research, 1985, Volume: 19, Issue:12 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Coenzymes; Folic Acid; Homocystinuria; Humans; Infant; Kidney; Liver; Male; Methylenetetrahydrofolate Reductase (NADPH2); Methyltransferases; Oxidoreductases Acting on CH-NH Group Donors	1985
Folate deficiency in childhood. Lancet (London, England), 1973, Apr-14, Volume: 1, Issue:7807 Topics: Adult; Age Factors; Anemia, Hemolytic; Anemia, Macrocytic; Birth Weight; Celiac Disease; Child; Folic Acid; Folic Acid Deficiency; Heart Diseases; Homocystinuria; Humans; Infant, Newborn; Infant, Premature	1973
Homocystinuria. Reduced folate levels during pyridoxine treatment. Archives of disease in childhood, 1973, Volume: 48, Issue:1 Topics: Child; Child, Preschool; Cystine; Erythrocytes; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Male; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine	1973
Pregnancy and homocystinuria. The Journal of obstetrics and gynaecology of the British Commonwealth, 1973, Volume: 80, Issue:7 Topics: Adult; Amnion; Blood Coagulation Tests; Cell Line; Cystine; Female; Fibroblasts; Folic Acid; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Methionine; Pregnancy; Pregnancy Complications; Pyridoxine; Vitamin B 12	1973
Investigations of coagulation and fibrinolysis in homocystinuria. Acta medica Scandinavica, 1974, Volume: 195, Issue:6 Topics: Adult; Blood Coagulation; Cystine; Diet; Factor V; Female; Fibrinogen; Fibrinolysis; Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Platelet Adhesiveness; Pyridoxine	1974
Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochemical and biophysical research communications, 1972, Jan-31, Volume: 46, Issue:2 Topics: Adolescent; Carbon Isotopes; Coenzymes; Female; Fibroblasts; Folic Acid; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Methylation; Methyltransferases; Oxidoreductases; Vitamin B 12	1972
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance. The Journal of pediatrics, 1972, Volume: 81, Issue:5 Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine; Tetrahydrofolates; Transferases; Vitamin B 12	1972
Combined vitamin responsiveness in homocystinuria. The Journal of pediatrics, 1972, Volume: 81, Issue:5 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
Homocystinuria. Proceedings of the Royal Society of Medicine, 1970, Volume: 63, Issue:1 Topics: Cardiovascular Diseases; Child; Child, Preschool; Diet Therapy; Eye Diseases; Folic Acid; Homocystinuria; Humans; Infant; Liver Diseases; Muscular Diseases; Neurologic Manifestations; Pyridoxine; Thrombosis	1970
Recent clinical advances in the treatment of neurological diseases. Pediatric clinics of North America, 1970, Volume: 17, Issue:2 Topics: Brain Diseases; Child, Preschool; Chronic Disease; Cystine; Diet Therapy; Dopamine; Folic Acid; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Movement Disorders; Muscular Diseases; Pyridoxine; Serotonin	1970
Homocystinuria. Report of two cases in siblings. Indian journal of pediatrics, 1970, Volume: 37, Issue:269 Topics: Child; Cystine; Diet Therapy; Female; Folic Acid; Homocystinuria; Humans; Intellectual Disability; Lens, Crystalline; Male; Pedigree; Pyridoxine	1970
Homocystinuria with methylmalonic aciduria: two cases in a sibship. Biochemical medicine, 1970, Volume: 4, Issue:5 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
A case of homocystinuria with a dystonic neurological syndrome. Neuropadiatrie, 1970, Volume: 1, Issue:3 Topics: Adolescent; Cystine; Extrapyramidal Tracts; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Movement Disorders; Muscle Tonus; Muscular Diseases; Prognosis; Pyridoxine; Taurine	1970
Hypersegmentation of megakaryocytes in a folic acid deficient child. The Tohoku journal of experimental medicine, 1971, Volume: 104, Issue:2 Topics: Bone Marrow; Cell Nucleus; Child; Child, Preschool; DNA; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Iron; Male; Megakaryocytes; Thymidine; Tritium	1971
Studies on the absorption and metabolism of folic acid. II. Homocystinuria. The Alabama journal of medical sciences, 1971, Volume: 8, Issue:1 Topics: Adolescent; Adult; Child; Female; Folic Acid; Homocystinuria; Humans; Male	1971
Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy. The American journal of medicine, 1968, Volume: 45, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; FIGLU Test; Folic Acid; Homocystine; Homocystinuria; Humans; Intelligence; Male; Methionine; Nitrogen; Vitamin B 12	1968
Homocystinuria as affected by pyridoxine, folic acid, and vitamin B12. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1968, Volume: 129, Issue:2 Topics: Adolescent; Child; Diet; Female; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Methods; Pyridoxine; Sulfur; Vitamin B 12	1968
Treatment of homocystinuria with pyridoxine. A preliminary study. Archives of disease in childhood, 1969, Volume: 44, Issue:235 Topics: Adolescent; Adult; Aminobutyrates; Child; Child, Preschool; Cystine; Female; Folic Acid; Folic Acid Deficiency; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Infant; L-Serine Dehydratase; Male; Methionine; Pyridoxine	1969