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

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 stor...

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Vydáno v:J Int Med Res
Hlavní autoři: Arko, Janez Jan, Debeljak, Marusa, Tansek, Mojca Zerjav, Battelino, Tadej, Groselj, Urh
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7425267/
https://ncbi.nlm.nih.gov/pubmed/32779500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060520936857
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