Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients

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

A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity

Ilan Weisberg, Pamela V. Tran, Benedicte Christensen et al. · Molecular Genetics and Metabolism · 1998 · 1.3K citations

Biochemistry, Natural Sciences, Genetics +11

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 · 870 citations · Full text

Natural Sciences, Genetics, Molecular Biology +6

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.

Rowena G. Matthews, Martha Ludwig, Brian Guenther et al. · Nature Structural Biology · 1999 · 417 citations

Biosynthesis, Aldo-keto Reductase, Biochemistry +8

Mammalian methylenetetrahydrofolate reductase Partial purification, properties, and inhibition by S-adenosylmethionine

Carl Kutzbach, E. L. R. Stokstad · Biochimica et Biophysica Acta (BBA) - Enzymology · 1971 · 344 citations

Biosynthesis, Aldo-keto Reductase, Aldehyde Dehydrogenase +8