Article
Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.
Atherosclerosis - 1 Jun 2012
Calabresi Laura, Simonelli Sara, Gomaraschi Monica, Franceschini Guido
Abstract excerpt
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced...
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