Abstract
Background and Aims : Mutations in the LCAT gene cause Familial LCAT Deficiency (FLD,OMIM#245900), a rare metabolic disorder characterized by severe HDL deficiency, hypertriglyceridemia, and an increased unesterified to total cholesterol ratio. Despite the complete lack of LCAT activity, FLD cases have circulating cholesteryl esters (CE), thus representing a tool to analyze the origin of VLDL cholesteryl esters.
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