Title : Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

Pub. Date : 2016 Apr

PMID : 25978498






1 Functional Relationships(s)
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1 CONCLUSION: Treatment with hydroxocobalamin in combination with betaine appears to be useful for hematological improvement and prevention of brain disabilities in CblE-affected patients. Hydroxocobalamin 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Homo sapiens