Article
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 May 1993
Hegele R A, Little J A, Vezina C, Maguire G F, Tu L, Wolever T S, Jenkins D J, Connelly P W
Abstract excerpt
Hepatic lipase (HL) is an important enzyme in the metabolism of triglyceride-rich lipoproteins and high density lipoproteins. The clinical syndrome of HL deficiency is rare and difficult to identify. We studied carriers of mutant HL to ascertain whether there are distinctive clinical and/or biochemical characteristics of the heterozygous state. In an Ontario kindred, compound heterozygosity for two HL mutations,...
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