Articles with "lipa gene" as a keyword



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LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

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Published in 2020 at "Atherosclerosis"

DOI: 10.1016/j.atherosclerosis.2020.01.026

Abstract: BACKGROUND AND AIMS Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of… read more here.

Keywords: cesd patients; lipa gene; gene mutations; composition ... See more keywords