5,10-Methylenetetrahydrofolate reductase deficiency

5,10‐Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited disorder of folate metabolism and causes… Expand

Over a four-year period, we collected clinical and biochemical data from five Amish children who were homozygous for missense… Expand

In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among… Expand

Many authors have reported the effectiveness of betaine in the therapy of homocystinuria. However, the appropriate dose and… Expand

Nitrous oxide irreversibly oxidizes the cobalt atom of vitamin B12, inhibiting the cobalamin-dependent enzyme methionine synthase… Expand

Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the… Expand

Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate… Expand

We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10… Expand

An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had… Expand

1. Nyhan WL: Nonketotic hyperglycinemia, in Stanbury JB, Wyngaarden JB, and Fredrickson DS, editors: The metabolic basis of… Expand