Associated Papers
Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
Li YX et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.
Liu L et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Massadeh S et al.
Frontiers in Neurology, 2019
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Tsuji M et al.
Brain & Development, 2011
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
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