Abstract
Background and Aims : Homozygous familial hypercholesterolaemia (HoFH) is a rare, life-threatening genetic disorder characterized by extremely high low-density lipoprotein-cholesterol (LDL-C) levels and severe and accelerated atherosclerotic cardiovascular disease (ASCVD). We describe the clinical management and molecular characterization of a subject with severe hypercholesterolemia.
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