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5,10-Methylenetetrahydrofolate reductase deficiency

Known as: 5' 10' Methylenetetrahydrofolate Reductase Deficiency, 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR), MTHFR 
A rare disorder associated with mental retardation, spasticity, and early death.
National Institutes of Health

Papers overview

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2015
2015
5,10‐Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited disorder of folate metabolism and causes… Expand
Highly Cited
2007
Highly Cited
2007
Over a four-year period, we collected clinical and biochemical data from five Amish children who were homozygous for missense… Expand
2004
2004
In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among… Expand
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2004
2004
Many authors have reported the effectiveness of betaine in the therapy of homocystinuria. However, the appropriate dose and… Expand
Highly Cited
2003
Highly Cited
2003
Nitrous oxide irreversibly oxidizes the cobalt atom of vitamin B12, inhibiting the cobalamin-dependent enzyme methionine synthase… Expand
2000
2000
Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the… Expand
Highly Cited
1991
Highly Cited
1991
Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate… Expand
Highly Cited
1988
Highly Cited
1988
We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10… Expand
1985
1985
An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had… Expand
1981
1981
1. Nyhan WL: Nonketotic hyperglycinemia, in Stanbury JB, Wyngaarden JB, and Fredrickson DS, editors: The metabolic basis of… Expand