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Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

7 Sept 2009

Abstract excerpt

The congenital disorders of glycosylation (CDG) are a recently described group of inherited multisystem disorders characterized by defects predominantly of N- and O-glycosylation of proteins. Cardiomyopathy in CDG has previously been described in several subtypes; it is usually associated with high morbidity and mortality and the majority of cases present in the first 2 years of life. This is the first case with...

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PMID: 19757145
DOI: 10.1007/s10545-009-1262-1

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