Article
Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.
Annals of medicine - 1 Nov 2014
Sirtori Cesare R, Pavanello Chiara, Bertolini Stefano
Abstract excerpt
Homozygous familial hypercholesterolemia (HoFH) represents the most severe lipoprotein disorder, generally attributable to mutation(s) of the low-density lipoprotein receptor (LDL-R), i.e. autosomal dominant hypercholesterolemia type 1 (ADH1). Much lower percentages are due to alterations of apolipoprotein B (ADH2), or gain-of-function mutations of proprotein convertase subtilisin/kexin type 9 (PCSK9) (ADH3). In...
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