Genetic Predisposition to Hyperhomocysteinemia: Deficiency of Methylenetetrahydrofolate Reductase (MTHFR)

Relation Between Folate Status, a Common Mutation in Methylenetetrahydrofolate Reductase, and Plasma Homocysteine Concentrations

Paul F. Jacques, Andrew G. Bostom, Roger R. Williams et al. · Circulation · 1996 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

Nathalie M.J. van der Put, F. Trijbels, Lambertus P. van den Heuvel et al. · The Lancet · 1995 · 871 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Leo A. J. Kluijtmans, Lambertus P. van den Heuvel, G. H. J. Boers et al. · PubMed · 1996 · 660 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Homocysteine metabolism in pregnancies complicated by neural-tube defects

James L. Mills, Yeon‐Joo Lee, M.R. Conley et al. · The Lancet · 1995 · 646 citations

Medicine, Maternal Health, Obstetrics +11

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

Seok Seon Kang, Paul Wong, Armando Susmano et al. · PubMed · 1991 · 605 citations

Medicine, Cardiology, Genetics +16