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Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.

Endocrinology and metabolism clinics of North America - 1 Dec 1999

Wolfsdorf J I, Holm I A, Weinstein D A

Abstract excerpt

The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradation of glycogen. In the past decade, considerable progress has been made in identifying the precise genetic abnormalities that cause the specific impairments of enzyme function. Likewise, improved understanding of the pathophysiologic derangements resulting from individual enzyme defects has led to...

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PMID: 10609121
DOI: 10.1016/s0889-8529(05)70103-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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