Associated Papers
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2021
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
[Metachromatic leukdystrophy (Sulfatidosis) and mucopolysaccharidosis associated in the same patient].
Thieffry S et al.
Revue Neurologique, 1966
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