Associated Papers
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM et al.
Journal of Inherited Metabolic Disease, 2023
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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