Congenital disorders of glycosylation--a challenging group of IEMs.

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a rapidly growing group of inherited errors of metabolism (IEMs) due to an impairment of one or several glycosylation pathways. During recent years over 30 CDG subtypes have been identified at a molecular and biochemical level. The clinical manifestations in CDG are heterogeneous and may be highly variable within the same subtype and even among affected siblings....

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