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Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV

12 Nov 2010

Abstract excerpt

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestation. The most severe fetal form...

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PMID: 21075835
DOI: 10.1093/hmg/ddq492

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