Condition: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY


rs1057519359 in MTHFR gene and HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID 25856670 2016 Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

PMID 26872964 2016 Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

PMID 15048559 2004 Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity.

PMID 20490923 2011 Isolated remethylation disorders: do our treatments benefit patients?

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 9781030 1998 Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

PMID 8940272 1996 Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

PMID 7726158 1995 Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

PMID 10679944 2000 Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

PMID 20236116 2010 Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

PMID 25736335 2015 Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

PMID 12673793 2003 Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

PMID 17409006 2007 Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

PMID 24797679 2014 Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

PMID 27743313 2017 Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

PMID 10551815 1999 Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.

PMID 24997712 2014 Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

PMID 26898294 2016 Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

PMID 22887477 2013 Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.