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xantomatóza cerebrotendinózna

  1. Subject h.xantomatóza cerebrotendinózna
    Subject h.Xanthomatosis, Cerebrotendinous
    Entry termsvan Bogaertov-Schererov-Epsteinov syndróm
    cholesterinosis cerebrotendinosa
    xanthomatosis normolipaemica
    CTX
    van Bogaertova-Schererova-Epsteinova choroba
    English X referencesVan Bogaert-Scherer-Epstein Disease
    Scope note in EnglishAn 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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    (1) - MeSH descriptor
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Number of the records: 1  

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