Article
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
European heart journal - 1 Mar 2015
Sjouke Barbara, Kusters D Meeike, Kindt Iris, Besseling Joost, Defesche Joep C, Sijbrands Eric J G, Roeters van Lennep Jeanine E, Stalenhoef Anton F H, Wiegman Albert, de Graaf Jacqueline, Fouchier Sigrid W, Kastelein John J P, Hovingh G Kees
Abstract excerpt
AIMS: Homozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9), is characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels and high risk for premature cardiovascular disease (CVD). The exact prevalence of molecularly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.