Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.

@article{Sjouke2015HomozygousAD,
  title={Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.},
  author={Barbara Sjouke and Doroth{\'e} M Kusters and Iris Kindt and Joost Besseling and Joep C. Defesche and Eric J G Sijbrands and Jeanine E. Roeters van Lennep and Anton F. H. Stalenhoef and Albert Wiegman and Jacqueline de Graaf and Sigrid W. Fouchier and John J. P. Kastelein and G. K. Hovingh},
  journal={European heart journal},
  year={2015},
  volume={36 9},
  pages={560-5}
}
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… CONTINUE READING