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Glycogen pathways in disease: new developments in a classical field of medical genetics

7 Nov 2014

Abstract excerpt

Glycogen is the storage form of glucose in animal cells. Its degradation can rapidly provide fuel for energy production (particularly important in muscle), or replenish blood glucose during fasting by the liver. Genetic defects of glycogen metabolism give rise to glycogen storage diseases (GSDs), manifesting histologically in abnormal quantity or quality of glycogen in the cells. GSDs can be caused by defects of...

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PMID: 25376534
DOI: 10.1007/s10545-014-9785-5

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