Associated Papers
A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.
Liu L et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Rommer PS et al.
Journal of the Neurological Sciences, 2017
Metabolic abnormalities associated with homozygosity for the 677C>T mutation in the methylenetetrahydrofolate reductase gene.
Arai M
Rinsho Shinkeigaku = Clinical Neurology, 2016
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2016
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P et al.
Human Mutation, 2015
Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.
Arai M et al.
Epilepsia, 2011
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
Screening for new MTHFR polymorphisms and NTD risk.
O'Leary VB et al.
American Journal of Medical Genetics. Part A, 2005
Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity.
Yano H et al.
Neurogenetics, 2004
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