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Article

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

The Journal of international medical research - 1 Aug 2020

Arko Janez Jan, Debeljak Marusa, Tansek Mojca Zerjav, Battelino Tadej, Groselj Urh

Abstract excerpt

Glycogen storage disease type 0 (GSD0) is an autosomal recessive disorder caused by a sequence variant in the GYS2 gene, leading to decreased or absent activity of hepatic glycogen synthase. With a frequency of less than 1 in 1,000,000 individuals, GSD0 represents only around 1% of all glycogen storage disease cases but it might be underrecognized. A 13-month-old girl of reportedly unrelated parents presented...

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Identifiers

PMID: 32779500
DOI: 10.1177/0300060520936857
PMCID: PMC7425267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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