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
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.
Al-Tai MR et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
The Role of Folate Deficiency as a Potential Risk Factor for Nontraumatic Anterior Spinal Artery Syndrome in an Adolescent Girl.
Hu CC et al.
Brain Sciences, 2022
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Wiedemann A et al.
Journal of Human Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Computational analysis for the determination of deleterious nsSNPs in human MTHFR gene.
Desai M et al.
Computational Biology and Chemistry, 2018
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P et al.
Journal of Inherited Metabolic Disease, 2017
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
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.
Guenther BD et al.
Nature Structural Biology, 1999