Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

Éric Bruckert, Robert A. Hegele, Jan Albert Kuivenhoven et al. · European Heart Journal · 2014 · 1.1K citations · Full text

Medicine, Cardiology, Genetics +17

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

Marina Cuchel, Emma A. Meagher, Hendrik du Toit Theron et al. · The Lancet · 2012 · 740 citations · Full text

Life Sciences, Pharmacokinetics, Pharmacology +12

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Philippa J. Talmud, Sonia Shah, Ros Whittall et al. · The Lancet · 2013 · 581 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Barbara Sjouke, D. Meeike Kusters, Iris Kindt et al. · European Heart Journal · 2014 · 442 citations · Full text

Medicine, Endocrinology, Genetics +17