Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

(2012) María Solanas-Barca et al.   ATHEROSCLEROSIS

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis

(2011) P. Sharma et al.   EUROPEAN JOURNAL OF HISTOCHEMISTRY

Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis

(2010) G. T. N. Besley et al.   CLINICAL GENETICS

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

(2010) A Cenarro et al.   CLINICAL GENETICS

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

(2010) Alice Marques-Pinheiro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

Effect of apolipoprotein E genotype on apolipoprotein B-100 metabolism in normolipidemic and hyperlipidemic subjects

(2010) Esther M. M. Ooi et al.   JOURNAL OF LIPID RESEARCH

Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation

(2009) Mojdeh Naghashpour et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

(2008) Fernando Civeira et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY