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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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| Udgivet i: | J Int Med Res |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
SAGE Publications
2020
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| Fag: | |
| Online adgang: | 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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