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glycogenosis type 1


Definition: glycogenosis due to glucose 6-phosphatase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure, particularly in liver and kidney.

Synonym(s): Gierke disease, glucose-6-phosphatase hepatorenal glycogenosis, von Gierke disease

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.