Thermolabile variant of 5, 10-methylenetetrahydrofolate reductaseassociated with low red-cell folates: implications for folate intake recommendations

Kang, 1991, Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease, Am J Hum Genet, 48, 536 Frosst, 1995, A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nat Genet, 10, 111, 10.1038/ng0595-111 de Franchis, 1995, Spina bifida, 677T°C mutation and role of folate, Lancet, 346, 1703, 10.1016/S0140-6736(95)92865-0 Kirke, 1996, Methylenetetrahydrofolate reductase mutation and neural tube defects, Lancet, 348, 1037, 10.1016/S0140-6736(05)64971-9 Kang, 1993, Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease, Circulation, 88, 1463, 10.1161/01.CIR.88.4.1463 Engbersen, 1995, Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia, Am J Hum Genet, 56, 142 Kluijtmans, 1996, Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease, Am J Hum Genet, 58, 35 Whitehead, 1995, A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects, Q J Med, 88, 763 van der Put, 1995, Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida, Lancet, 346, 1070, 10.1016/S0140-6736(95)91743-8 Kang, 1988, Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase, Am J Hum Genet, 43, 414 O'Broin, 1992, Microbiological assay on microtitre plates of folate in serum red cells, J Clin Pathol, 45, 344, 10.1136/jcp.45.4.344 Kirke, 1993, Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects, Q J Med, 86, 703 Smith, 1992, Dibrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease, Lancet, 339, 1375, 10.1016/0140-6736(92)91196-F Visy, 1991, Homocysteinuria due to 5,10 methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings, Neurology, 41, 1313, 10.1212/WNL.41.8.1313 Rosenblatt, 1979, Folate distribution in cultured cells: studies on 5,10-CH2-H4PteGlu reductase deficiency, J Clin Invest, 63, 1019, 10.1172/JCI109370 Baumgartner, 1985, Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies, Pediatr Res, 19, 1288, 10.1203/00006450-198512000-00017 Chanarin, 1990 Boushey, 1995, A quantitative assessment of plasma homocysteine as a risk factor for vascular disease, JAMA, 274, 1049, 10.1001/jama.1995.03530130055028 Jacques, 1996, Relation between folate status, a common mutation in methylenetetrahydrofolate reductase and plasma homocysteine concentrations, Circulation, 93, 7, 10.1161/01.CIR.93.1.7 Daly, 1995, Folate levels and neural tube defects: implications for prevention, JAMA, 274, 1698, 10.1001/jama.1995.03530210052030