E M Stevens

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

N.M.J. van der Put, F. Gabreëls, E M Stevens et al. · The American Journal of Human Genetics · 1998 · 1.6K citations · Full text

Developmental Biology, Second Common Mutation, Neural-tube Defects +12

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

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

A.M.T. Engbersen, D. G. Franken, G. H. J. Boers et al. · PubMed · 1995 · 424 citations

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Leo A. J. Kluijtmans, G. H. J. Boers, E M Stevens et al. · Journal of Clinical Investigation · 1996 · 98 citations · Full text

Molecular Pharmacology, Biosynthesis, Protein Expression +12

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

Leo A. J. Kluijtmans, Udo Wendel, E M Stevens et al. · European Journal of Human Genetics · 1998 · 54 citations · Full text

Somatic Variant, Mendelian Disorder, Biochemistry +11