Associated Papers
Shifting landscapes of human MTHFR missense-variant effects.
Weile J et al.
American Journal of Human Genetics, 2021
34214447 (PubMed )
Supplement: mmc4.xlsx › patients_from_literature
Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.
Chang KJ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Wong D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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