Number of the records: 1  

Wolmanova choroba

  1. Subject h.Wolmanova choroba
    Subject h.Wolman Disease
    Entry termsxantomatóza familiárna
    Wolmanova xantomatóza
    deficit kyslej cholesteryl ester hydrolázy, Wolmanov typ
    deficit kyslej cholesteryl ester hydrolázy, typ 2
    deficit cholesterol ester hydrolázy
    deficit kyslej lipázy
    ochorenie kyslej lipázy
    choroba kyslej lipázy
    LAL deficit
    LIPA deficit
    deficit lipozomálnej kyslej lipázy, Wolmanov typ
    deficit kyslej lipozómovej lipázy, Wolmanov typ
    Wolmanova choroba s hypolipoproteinémiou a akantocytózou
    deficit kyslej lyzozómovej lipázy
    English X referencesAcid Cholesteryl Ester Hydrolase Deficiency, Type 2
    Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
    Acid Lipase Disease
    LIPA Deficiency
    Lysosomal Acid Lipase Deficiency
    Xanthomatosis, Familial
    Xanthomatosis, Wolman's
    Scope note in EnglishThe severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
    Links (10) - ARTICLES
    (1) - CiBaMed
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all