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deficit lecitín-cholesterol acyltransferázy

  1. Subject h.deficit lecitín-cholesterol acyltransferázy
    Subject h.Lecithin Cholesterol Acyltransferase Deficiency
    Entry termsdystrofia rohovky dyslipoproteinemická
    choroba rybieho oka
    deficit LCAT
    nedostatok LCATA
    deficit alfa-lecitín:cholesterol acyltransferázy
    Norumova choroba
    Scope note in EnglishAn autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
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Number of the records: 1  

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