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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.

MeSH information
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.


publications
This graph shows the total number of publications written about "Glycogen Storage Disease Type IV" by people in the URMC Research Network by year, and whether "Glycogen Storage Disease Type IV" was a major or minor topic of these publication.
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