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Xanthomatosis, Cerebrotendinous

"Xanthomatosis, Cerebrotendinous" 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 lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

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