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Glycogen Storage Disease Type I

"Glycogen Storage Disease Type I" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.


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This graph shows the total number of publications written about "Glycogen Storage Disease Type I" by people in this website by year, and whether "Glycogen Storage Disease Type I" was a major or minor topic of these publications.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 1997 and 2019
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