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27. Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians. Camacho Vanegas O; Giusti B; Restrepo Fernandez CM; Abbate R; Pepe G Thromb Haemost; 1998 Apr; 79(4):883-4. PubMed ID: 9569213 [No Abstract] [Full Text] [Related]
28. Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Wendel U; Bremer HJ Eur J Pediatr; 1984 Jun; 142(2):147-50. PubMed ID: 6381059 [TBL] [Abstract][Full Text] [Related]
29. A case of MTHFR deficiency characterized by adult-onset spastic paraplegia. Liu L; Sun Q; Yang G QJM; 2024 Mar; 117(3):223-225. PubMed ID: 37972026 [No Abstract] [Full Text] [Related]
30. Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency. Rosenblatt DS; Lue-Shing H; Matiaszuk N; Low-Nang L; Arzoumanian A; Cooper BA Adv Exp Med Biol; 1993; 338():703-6. PubMed ID: 8304210 [No Abstract] [Full Text] [Related]
31. Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Nishimura M; Yoshino K; Tomita Y; Takashima S; Tanaka J; Narisawa K; Kurobane I Pediatr Neurol; 1985; 1(6):375-8. PubMed ID: 2854737 [TBL] [Abstract][Full Text] [Related]
32. Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. Kluijtmans LA; Wendel U; Stevens EM; van den Heuvel LP; Trijbels FJ; Blom HJ Eur J Hum Genet; 1998; 6(3):257-65. PubMed ID: 9781030 [TBL] [Abstract][Full Text] [Related]
33. MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. Engelbrecht V; Rassek M; Huismann J; Wendel U AJNR Am J Neuroradiol; 1997 Mar; 18(3):536-9. PubMed ID: 9090418 [TBL] [Abstract][Full Text] [Related]
34. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase. Goyette P; Rozen R Hum Mutat; 2000; 16(2):132-8. PubMed ID: 10923034 [TBL] [Abstract][Full Text] [Related]
35. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Loewenstein A; Goldstein M; Winder A; Lazar M; Eldor A Ophthalmology; 1999 Sep; 106(9):1817-20. PubMed ID: 10485556 [TBL] [Abstract][Full Text] [Related]
36. Follow-up in a child with 5,10-methylenetetrahydrofolate reductase deficiency. Harpey JP; Le Moël G; Zittoun J J Pediatr; 1983 Dec; 103(6):1007. PubMed ID: 6358439 [No Abstract] [Full Text] [Related]
37. [Hyperhomocysteinemia and C677T mutation of methylenetetrahydrofolate reductase]. Grasa Ullrich JM; Torres Gómez M; Sánchez Marín B; Calvo Martín MT; García Erce JA; Giralt Raichs M An Med Interna; 2002 May; 19(5):269. PubMed ID: 12108010 [No Abstract] [Full Text] [Related]
38. Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation. Lin N; Jiang N; Dai Y; Gao J; Wang L Neurol Sci; 2016 Oct; 37(10):1735-7. PubMed ID: 27118298 [No Abstract] [Full Text] [Related]
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