title: Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia.
abstract: These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, "Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study" (Raal et al., 2016) [1].
authors.affiliation: Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Raal
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, Netherlands.
authors.forename: Barbara
authors.initials: B
authors.lastname: Sjouke
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1100 DD Amsterdam, Netherlands.
authors.forename: G Kees
authors.initials: GK
authors.lastname: Hovingh
authors.affiliation: Medical Affairs, Sanofi Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
authors.forename: Barton F
authors.initials: BF
authors.lastname: Isaac
keywords: Cholesterol; Homozygous familial hypercholesterolemia; Phenotype