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Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type

26 Feb 2009

Abstract excerpt

OBJECTIVE: To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and homocystinuria, cblC type [cobalamin C (cblC) deficiency] (MIM 277400). METHOD: We describe a boy with cblC deficiency who presented prenatally with fetal ultrasound findings of dilated cardiomyopathy and growth restriction. RESULTS: Dilated cardiomyopathy and growth retardation were detected in the third...

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PMID: 19248038
DOI: 10.1002/pd.2218

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