Glycogen Storage Disease Type IV

"Glycogen Storage Disease Type IV" 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 metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.


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