Characterization of the unique Chinese W483X mutation in the low-density lipoprotein–receptor gene in young patients with homozygous familial hypercholesterolemia

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Børge G. Nordestgaard, M. John Chapman, Steve E. Humphries et al. · European Heart Journal · 2013 · 2.7K citations · Full text

Medicine, Cardiology, Preventive Medicine +17

LDL-receptor-related proteins in Wnt signal transduction

Keiko Tamai, Mikhail A. Semenov, Yoichi Kato et al. · Nature · 2000 · 1.3K citations

Life Sciences, Biochemistry, Molecular Biology +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

Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy

Frederick J. Raal, Gillian J. Pilcher, Vanessa R. Panz et al. · Circulation · 2011 · 364 citations · Full text

Medicine, Cardiology, Genetics +17

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

S. E. A. Leigh, A. H. Foster, Roslyn A. Whittall et al. · Annals of Human Genetics · 2008 · 233 citations

Life Sciences, Genetics, Molecular Genetics +15