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xantomatóza cerebrotendinózna

  1. Record numberd019294
    Date06.06.2025
    TypeM - MESH
    Topical termxantomatóza cerebrotendinózna
    Other termEnglish (Pseudonym) Van Bogaert-Scherer-Epstein Disease
    Slovak (Pseudonym) van Bogaertov-Schererov-Epsteinov syndróm
    Slovak (Pseudonym) cholesterinosis cerebrotendinosa
    Slovak (Pseudonym) xanthomatosis normolipaemica
    Slovak (Pseudonym) CTX
    Slovak (Pseudonym) van Bogaertova-Schererova-Epsteinova choroba
    See also(Later heading) cholestántriol 26-monooxygenáza
    UDCC16.320.565.398.925C18.452.584.563.925C18.452.584.750.975C18.452.648.398.925
    NoteAn 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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Number of the records: 1  

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