Title : Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Pub. Date : 2010 Dec

PMID : 20058079






1 Functional Relationships(s)
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1 Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues. Glycogen 1,4-alpha-glucan branching enzyme 1 Homo sapiens