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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.

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An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. 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.


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This graph shows the total number of publications written about "Xanthomatosis, Cerebrotendinous" by people in this website by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publications.
Bar chart showing 2 publications over 1 distinct years, with a maximum of 2 publications in 2023
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