glycogen storage disease

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glycogen storage disease

n.
Any of various genetic diseases caused by deficiency of one of the enzymes involved in breaking down or synthesizing glycogen, resulting in storage of abnormal amounts or types of glycogen and often affecting the liver, muscles, or both. Also called glycogenosis.
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The electrodiagnostic characteristics of Glycogen storage disease type III.
The mutations which occur in this gene have been associated with glycogen storage disease type III (GSD III, MIM#232400).
Glycogen storage disease type III diagnosis and management guidelines.

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