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hypobetalipoproteinémia s deficitom apolipoproteínu B, familiárna

  1. Subject h.hypobetalipoproteinémia s deficitom apolipoproteínu B, familiárna
    Subject h.Hypobetalipoproteinemia, Familial, Apolipoprotein B
    Entry termsdeficit apolipoproteínu B
    English X referencesApolipoprotein B Deficiency
    Scope note in EnglishAn autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
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    (1) - CiBaMed
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