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hyperlipoproteinémia typu III

  1. Subject h.hyperlipoproteinémia typu III
    Subject h.Hyperlipoproteinemia Type III
    Entry termshypercholesterolémia autozomálne recesívna
    hyperlipoproteinémia, typ III
    dysbetalipoproteinémia
    dysbetalipoproteinémia familiárna
    hypercholesterolémia s hyperlipémiou, familiárna
    choroba so širokou beta-frakciou
    choroba širokého beta pruhu
    choroba širokej beta frakcie
    hyperlipoproteinémia so širokým pásom beta
    hyperlipoproteinémia so širokým pruhom beta
    English X referencesAutosomal Recessive Hypercholesterolemia
    Broad Beta Disease
    Dysbetalipoproteinemia
    Dysbetalipoproteinemia, Familial
    Scope note in EnglishAn autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
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