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

Premature atherosclerosis is not systematic in phytosterolemic patients: Severe hypercholesterolemia as a confounding factor in five subjects

(2014) Boris Hansel et al.   ATHEROSCLEROSIS

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

Lipoprotein apheresis: State of the art and novelties

(2013) C. Stefanutti et al.   ATHEROSCLEROSIS SUPPLEMENTS

Effect of the Proprotein Convertase Subtilisin/Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia

(2013) Evan A. Stein et al.   CIRCULATION

Cerebrotendinous xanthomatosis

(2013) Ingemar Björkhem   CURRENT OPINION IN LIPIDOLOGY

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

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies

(2013) Esther M.M. Ooi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

(2013) Gerald F. Watts et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

(2013) Philippa J Talmud et al.   LANCET

Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia

(2013) Ravindran Rajendran et al.   European Heart Journal-Cardiovascular Imaging

Elevated PCSK9 Levels in Untreated Patients With Heterozygous or Homozygous Familial Hypercholesterolemia and the Response to High‐Dose Statin Therapy

(2013) Frederick Raal et al.   Journal of the American Heart Association

Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment

(2012) Frederick J. Raal et al.   ATHEROSCLEROSIS

Clinical pharmacological properties of mipomersen (Kynamro), a second generation antisense inhibitor of apolipoprotein B

(2012) Stanley T. Crooke et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Low-Density Lipoprotein Cholesterol–Lowering Effects of AMG 145, a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease in Patients With Heterozygous Familial Hypercholesterolemia

(2012) Frederick Raal et al.   CIRCULATION

Apolipoprotein B Synthesis Inhibition With Mipomersen in Heterozygous Familial Hypercholesterolemia

(2012) Evan A. Stein et al.   CIRCULATION

Adeno-Associated Virus Serotype 8 Gene Therapy Leads to Significant Lowering of Plasma Cholesterol Levels in Humanized Mouse Models of Homozygous and Heterozygous Familial Hypercholesterolemia

(2012) Sadik H. Kassim et al.   HUMAN GENE THERAPY

Guidelines for the Management of Familial Hypercholesterolemia

(2012) Mariko Harada-Shiba et al.   Journal of Atherosclerosis and Thrombosis

Homozygous familial hypercholesterolaemia

(2012) Marina Macchiaiolo et al.   LANCET

Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial

(2012) Evan A Stein et al.   LANCET

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

(2012) Marina Cuchel et al.   LANCET

Multiple functions of microsomal triglyceride transfer protein

(2012) M Mahmood Hussain et al.   Nutrition & Metabolism

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

(2011) Frederick J. Raal et al.   CIRCULATION

Lipid and low-density-lipoprotein apheresis. Effects on plasma inflammatory profile and on cytokine pattern in patients with severe dyslipidemia

(2011) Claudia Stefanutti et al.   CYTOKINE

Cardiac CT angiography in children with congenital heart disease

(2011) Suvipaporn Siripornpitak et al.   EUROPEAN JOURNAL OF RADIOLOGY

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

(2011) Anne C. Goldberg et al.   Journal of Clinical Lipidology

Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

(2011) Küçükkartallar Tevfik et al.   PEDIATRIC TRANSPLANTATION

Translational Lessons from a Case of Combined Heart and Liver Transplantation for Familial Hypercholesterolemia 20 Years Post-operatively

(2011) Michael Ibrahim et al.   Journal of Cardiovascular Translational Research

Sudden Death in a 4-Year-Old Boy: A Near-Complete Occlusion of the Coronary Artery Caused by an Aggressive Low-Density Lipoprotein Receptor Mutation (W556R) in Homozygous Familial Hypercholesterolemia

(2010) Kurt Widhalm et al.   JOURNAL OF PEDIATRICS

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

(2010) Frederick J Raal et al.   LANCET

Challenges in pediatric transplantation: The impact of chronic kidney disease and cardiovascular risk factors on long-term outcomes and recommended management strategies

(2010) Guido Filler   PEDIATRIC TRANSPLANTATION

Low Density Lipoprotein Apheresis in Pediatric Patients With Homozygous Familial Hypercholesterolemia

(2009) Mahmut Coker et al.   THERAPEUTIC APHERESIS AND DIALYSIS

Adults with Congenital Heart Disease: Psychological Needs and Treatment Preferences

(2009) Adrienne H. Kovacs et al.   Congenital Heart Disease

Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia

(2008) Daniel M. Kolansky et al.   AMERICAN JOURNAL OF CARDIOLOGY

Vascular Calcifications in Homozygote Familial Hypercholesterolemia

(2008) Z. Awan et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis

(2008) S Kidambi et al.   JOURNAL OF CLINICAL PATHOLOGY

A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia

(2007) A. David Marais et al.   ATHEROSCLEROSIS

Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography

(2007) Raul D. Santos et al.   ATHEROSCLEROSIS