Molecular genetics of methylenetetrahydrofolate reductase deficiency

Journal of Inherited Metabolic Disease

Volumn 19, Issue 5, 1996, Pages 589-594

  Rozen, R ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE; METHIONINE;

ARTERIOSCLEROSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; METHYLATION; MOLECULAR GENETICS; NEURAL TUBE DEFECT; PHENOTYPE; REVIEW; RISK FACTOR; VASCULAR DISEASE;

EID: 0029816188     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799831     Document Type: Review

References (4)

1. Bostom AG, Shemin D, Lapane KL (1996) Folate status is the major determinant of fasting total plasma homocysteine levels in maintenance dialysis patients. Atherosclerosis 123: 193-202.
2. Boushey C, Beresford SAA, Omenn GS, Motulsky AG (1995) A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. J Am Med Assoc 274: 1049-1057.
3. Christensen B, Frosst P, Lussier-Cacan S, et al (in press) Correlation of a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine in patients with premature coronary artery disease. Arterioscler Thomb Vasc Biol.
4. Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels FJM, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56: 142-150.