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choroba z ukladania esterov cholesterolu

  1. Record numberd015217
    Date06.06.2025
    TypeM
    Topical termchoroba z ukladania esterov cholesterolu
    Other termSlovak (Pseudonym) choroba z hromadenia esterov cholesterolu
    See also(Later heading) sterolesteráza
    (Skutočné meno) sterolesteráza
    UDCC16.320.565.398.641.201C16.320.565.595.201C18.452.584.563.641.201C18.452.648.398.641.201C18.452.648.595.201
    NoteAn 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.
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Number of the records: 1  

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