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choroba z ukladania esterov cholesterolu

  1. Subject h.choroba z ukladania esterov cholesterolu
    Subject h.Cholesterol Ester Storage Disease
    Entry termschoroba z hromadenia esterov cholesterolu
    Scope note in EnglishAn autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
    See also reference (FX) in Slovak sterolesteráza
    See also reference (FX) in English Sterol Esterase
    Links (7) - ARTICLES
    (1) - MeSH descriptor
    (1) - CiBaMed
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