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deficit lecitín-cholesterol acyltransferázy
Subject h. deficit lecitín-cholesterol acyltransferázy Subject h. Lecithin Cholesterol Acyltransferase Deficiency Entry terms dystrofia rohovky dyslipoproteinemická
choroba rybieho oka
deficit LCAT
nedostatok LCATA
deficit alfa-lecitín:cholesterol acyltransferázy
Norumova chorobaScope note in English An 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. subject heading
Number of the records: 1