Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference16 articles.
1. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification
2. Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: A case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy
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1. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes;European Journal of Human Genetics;2019-06-24
2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency;Journal of Inherited Metabolic Disease;2016-11-30
3. If not Angelman, what is it? a review of Angelman-like syndromes;American Journal of Medical Genetics Part A;2014-01-29
4. Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash;American Journal of Medical Genetics Part A;2012-07-27
5. Disorders of Cobalamin and Folate Transport and Metabolism;Inborn Metabolic Diseases;2012
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