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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.

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 Harvard Catalyst Profiles by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publication.
Bar chart showing 6 publications over 4 distinct years, with a maximum of 3 publications in 2018
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.