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
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Jafari Khamirani H et al.
Frontiers in Genetics, 2022
36276950 (PubMed )
Supplement: Table1.XLSX › Variant_annotation
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Methylene Tetrahydrofolate Reductase Deficiency.
Kaur R et al.
Indian Journal of Pediatrics, 2020
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
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Rommer PS et al.
Journal of the Neurological Sciences, 2017
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
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P et al.
Human Mutation, 2015
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