Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement.

[1]  R. Hegele,et al.  Conservative management in hypertriglyceridemia‐associated pancreatitis , 2019, Journal of internal medicine.

[2]  J. Witztum,et al.  N-acetyl galactosamine-conjugated antisense drug to APOC3 mRNA, triglycerides and atherogenic lipoprotein levels , 2019, European heart journal.

[3]  R. Hegele,et al.  Progress in finding pathogenic DNA copy number variations in dyslipidemia , 2019, Current opinion in lipidology.

[4]  R. Hegele,et al.  Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia. , 2019, Atherosclerosis.

[5]  E. Levy,et al.  Chylomicron retention disease: genetics, biochemistry, and clinical spectrum , 2019, Current opinion in lipidology.

[6]  R. Gibbs,et al.  A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers , 2019, Cell.

[7]  R. Hegele,et al.  Lipid-Lowering Agents. , 2019, Circulation research.

[8]  A. Marais.  Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease. , 2019, Pathology.

[9]  E. Manzato,et al.  Lipoprotein-X fifty years after its original discovery. , 2019, Nutrition, metabolism, and cardiovascular diseases : NMCD.

[10]  R. Hegele,et al.  Severe hypertriglyceridemia is primarily polygenic. , 2019, Journal of clinical lipidology.

[11]  S. Martin,et al.  The spectrum of type III hyperlipoproteinemia. , 2018, Journal of clinical lipidology.

[12]  R. Hegele,et al.  Genetic and secondary causes of severe HDL deficiency and cardiovascular disease1 , 2018, Journal of Lipid Research.

[13]  Marina T. DiStefano,et al.  ClinVar database of global familial hypercholesterolemia‐associated DNA variants , 2018, Human mutation.

[14]  S. Yamashita,et al.  Accelerated Atherogenicity in Tangier Disease , 2018, Journal of atherosclerosis and thrombosis.

[15]  G. Franceschini,et al.  Complete and Partial Lecithin: Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis , 2018, Circulation.

[16]  R. Hegele,et al.  The complex molecular genetics of familial hypercholesterolaemia , 2018, Nature Reviews Cardiology.

[17]  F. Kronenberg,et al.  Quantifying Atherogenic Lipoproteins: Current and Future Challenges in the Era of Personalized Medicine and Very Low Concentrations of LDL Cholesterol. A Consensus Statement from EAS and EFLM. , 2018, Clinical chemistry.

[18]  U. Julius.  Current Role of Lipoprotein Apheresis in the Treatment of High-Risk Patients , 2018, Journal of cardiovascular development and disease.

[19]  B. Nordestgaard,et al.  U-shaped relationship of HDL and risk of infectious disease: two prospective population-based cohort studies , 2018, European heart journal.

[20]  R. Hegele,et al.  Polygenic influences on dyslipidemias , 2018, Current opinion in lipidology.

[21]  D. Rader,et al.  Trials and Tribulations of CETP Inhibitors. , 2018, Circulation research.

[22]  M. Abe,et al.  A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation. , 2017, Journal of clinical lipidology.

[23]  D. Gaudet,et al.  Clinical and biochemical features of different molecular etiologies of familial chylomicronemia. , 2017, Journal of clinical lipidology.

[24]  John F. Robinson,et al.  Polygenic determinants in extremes of high-density lipoprotein cholesterol[S] , 2017, Journal of Lipid Research.

[25]  D. Noto,et al.  Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. , 2017, Journal of clinical lipidology.

[26]  C. Zeng,et al.  Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature , 2017, Medicine.

[27]  B. Nordestgaard,et al.  Extreme high high-density lipoprotein cholesterol is paradoxically associated with high mortality in men and women: two prospective cohort studies , 2017, European heart journal.

[28]  A. Jadhav,et al.  Lecithin:Cholesterol Acyltransferase Activation by Sulfhydryl-Reactive Small Molecules: Role of Cysteine-31 , 2017, The Journal of Pharmacology and Experimental Therapeutics.

[29]  D. Gaudet,et al.  ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia. , 2017, The New England journal of medicine.

[30]  D. Gaudet,et al.  Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia. , 2017, Circulation.

[31]  R. Hegele,et al.  Genetics of Triglycerides and the Risk of Atherosclerosis , 2017, Current Atherosclerosis Reports.

[32]  R. Hegele,et al.  Complexity of mechanisms among human proprotein convertase subtilisin–kexin type 9 variants , 2017, Current opinion in lipidology.

[33]  G. Watts,et al.  Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. , 2017, The lancet. Diabetes & endocrinology.

[34]  A. von Eckardstein,et al.  HDL cholesterol: reappraisal of its clinical relevance , 2017, Clinical Research in Cardiology.

[35]  R. Hegele,et al.  Clinical utility gene card for: Sitosterolaemia , 2016, European Journal of Human Genetics.

[36]  R. Hegele,et al.  Familial hypercholesterolaemia , 2017, Nature Reviews Disease Primers.

[37]  John F. Robinson,et al.  Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically , 2016, Arteriosclerosis, thrombosis, and vascular biology.

[38]  P. Austin,et al.  High-Density Lipoprotein Cholesterol and Cause-Specific Mortality in Individuals Without Previous Cardiovascular Conditions: The CANHEART Study. , 2016, Journal of the American College of Cardiology.

[39]  A. Miserez,et al.  Familial defective apolipoprotein B-100: A review. , 2016, Journal of clinical lipidology.

[40]  A. Hoes,et al.  2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. , 2016, European heart journal.

[41]  Benjamin Bowe,et al.  High Density Lipoprotein Cholesterol and the Risk of All-Cause Mortality among U.S. Veterans. , 2016, Clinical journal of the American Society of Nephrology : CJASN.

[42]  E. Schaefer,et al.  Diagnosis and treatment of high density lipoprotein deficiency. , 2016, Progress in cardiovascular diseases.

[43]  S. Young,et al.  GPIHBP1 and Plasma Triglyceride Metabolism , 2016, Trends in Endocrinology & Metabolism.

[44]  Dajiang J. Liu,et al.  Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease , 2016, Science.

[45]  R. Shamburek,et al.  Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement. , 2016, Journal of clinical lipidology.

[46]  G. Franceschini,et al.  Lipoprotein X Causes Renal Disease in LCAT Deficiency , 2016, PloS one.

[47]  O. Gursky,et al.  Structural Stability and Local Dynamics in Disease-Causing Mutants of Human Apolipoprotein A-I: What Makes the Protein Amyloidogenic? , 2016, Journal of molecular biology.

[48]  R. Shamburek,et al.  Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study. , 2016, Circulation research.

[49]  G. Enns,et al.  A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. , 2015, The New England journal of medicine.

[50]  D. Hughes,et al.  Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. , 2015, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[51]  R. Hegele,et al.  Chylomicronaemia—current diagnosis and future therapies , 2015, Nature Reviews Endocrinology.

[52]  J. Frohlich,et al.  A review on lecithin:cholesterol acyltransferase deficiency. , 2015, Clinical biochemistry.

[53]  John F. Robinson,et al.  Targeted next-generation sequencing in monogenic dyslipidemias , 2015, Current opinion in lipidology.

[54]  Gerald F. Watts,et al.  Homozigot ailevi hiperkolesterolemi: klinisyenlerin taniyi ve klinik yönetimi gelistirmelerine yönelik yeni anlayislar ve rehberlik. Avrupa Ateroskleroz Dernegi'nin Ailevi Hiperkolesterolemi Üzerine Uzlasi Paneli yazili görüsü. , 2015 .

[55]  J. Kastelein,et al.  Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA[S] , 2015, Journal of Lipid Research.

[56]  W. Annema,et al.  High Density Lipoproteins , 2013, Handbook of Experimental Pharmacology.

[57]  D. Gaudet,et al.  Canadian Cardiovascular Society position statement on familial hypercholesterolemia. , 2014, The Canadian journal of cardiology.

[58]  H. Bril,et al.  The curious case of the orange coloured tonsils. , 2014, International journal of pediatric otorhinolaryngology.

[59]  Kees Hovingh,et al.  Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. , 2014, Atherosclerosis.

[60]  F. Welty.  Hypobetalipoproteinemia and abetalipoproteinemia , 2014, Current opinion in lipidology.

[61]  Mindy I. Davis,et al.  Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families , 2014, Human molecular genetics.

[62]  J. Burnett,et al.  Update on Primary Hypobetalipoproteinemia , 2014, Current Atherosclerosis Reports.

[63]  R. Hegele,et al.  Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management , 2014, Journal of Inherited Metabolic Disease.

[64]  Catherine Boileau,et al.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease , 2013, European heart journal.

[65]  A. von Eckardstein,et al.  High-density lipoproteins. Multifunctional but vulnerable protections from atherosclerosis. , 2013, Circulation journal : official journal of the Japanese Circulation Society.

[66]  B. Nordestgaard,et al.  Population-Based Resequencing of APOA1 in 10,330 Individuals: Spectrum of Genetic Variation, Phenotype, and Comparison with Extreme Phenotype Approach , 2012, PLoS genetics.

[67]  N. Peretti,et al.  Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene , 2012 .

[68]  John Spertus,et al.  Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study , 2012, The Lancet.

[69]  G. Labbadia,et al.  Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. , 2012, The Journal of clinical endocrinology and metabolism.

[70]  G. Franceschini,et al.  Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease. , 2012, Atherosclerosis.

[71]  R. Hegele,et al.  Severe hypertriglyceridemia in pregnancy. , 2012, The Journal of clinical endocrinology and metabolism.

[72]  M. Péterfy.  Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. , 2012, Biochimica et biophysica acta.

[73]  Zahi A Fayad,et al.  Cholesterol efflux and atheroprotection: advancing the concept of reverse cholesterol transport. , 2012, Circulation.

[74]  R. Hegele,et al.  Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. , 2012, American journal of human genetics.

[75]  R. Hegele,et al.  The transcription factor cyclic AMP–responsive element–binding protein H regulates triglyceride metabolism , 2011, Nature Medicine.

[76]  M. Hayden,et al.  Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans , 2011, Clinical genetics.

[77]  C. Hollak,et al.  Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. , 2011, Atherosclerosis.

[78]  T. Leren,et al.  Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Renal Lesions with Early Graft Recurrence , 2011, Ultrastructural pathology.

[79]  Jan Albert Kuivenhoven,et al.  Genetic variant of the scavenger receptor BI in humans. , 2011, The New England journal of medicine.

[80]  M. Taskinen,et al.  [ESC/EAS Guidelines for the management of dyslipidaemias]. , 2011, Revista espanola de cardiologia.

[81]  Jonathan C. Cohen,et al.  Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. , 2010, The New England journal of medicine.

[82]  Robert A. Hegele,et al.  Plasma lipoproteins: genetic influences and clinical implications , 2009, Nature Reviews Genetics.

[83]  J. O’Connell,et al.  A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection , 2008, Science.

[84]  Z. Awan,et al.  Comparison of treatment of severe high-density lipoprotein cholesterol deficiency in men with daily atorvastatin (20 mg) versus fenofibrate (200 mg) versus extended-release niacin (2 g). , 2008, The American journal of cardiology.

[85]  M. Willingham,et al.  Increased Cellular Free Cholesterol in Macrophage-specific Abca1 Knock-out Mice Enhances Pro-inflammatory Response of Macrophages* , 2008, Journal of Biological Chemistry.

[86]  E. Schaefer,et al.  Clinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein-deficiency states. , 2008, Journal of clinical lipidology.

[87]  Børge G Nordestgaard,et al.  Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease. , 2008, JAMA.

[88]  S. Kidambi,et al.  Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis , 2008, Journal of Clinical Pathology.

[89]  S. Bertolini,et al.  Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs). , 2008, Clinical nephrology.

[90]  R. Hegele,et al.  Hypertriglyceridemia: its etiology, effects and treatment , 2007, Canadian Medical Association Journal.

[91]  J. Wester.  A rare disease , 2007, Critical care.

[92]  Christopher Hamel.  Retinitis pigmentosa , 2006, Orphanet journal of rare diseases.

[93]  Jonathan C. Cohen,et al.  Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. , 2006, American journal of human genetics.

[94]  Albert K Groen,et al.  Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. , 2006, The Journal of clinical investigation.

[95]  M. Hayden,et al.  Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. , 2005, The Journal of clinical investigation.

[96]  F. V. van Bockxmeer,et al.  Monogenic Hypocholesterolaemic Lipid Disorders and Apolipoprotein B Metabolism , 2005, Critical reviews in clinical laboratory sciences.

[97]  Jonathan C. Cohen,et al.  Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis , 2002, The Lancet.

[98]  A. Jonas.  Lecithin cholesterol acyltransferase. , 2000, Biochimica et biophysica acta.

[99]  J. Ordovás,et al.  Decreased production and increased catabolism of apolipoprotein B-100 in apolipoprotein B-67/B-100 heterozygotes. , 1997, Arteriosclerosis, thrombosis, and vascular biology.

[100]  C. Aguilar-Salinas,et al.  Positive linear correlation between the length of truncated apolipoprotein B and its secretion rate: in vivo studies in human apoB-89, apoB-75, apoB-54.8, and apoB-31 heterozygotes. , 1996, Journal of lipid research.

[101]  R. Lees,et al.  Homozygous Tangier disease and cardiovascular disease. , 1994, Atherosclerosis.

[102]  R. Hegele,et al.  Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. , 1993, Arteriosclerosis and thrombosis : a journal of vascular biology.

[103]  G. Schonfeld,et al.  Lipoproteins containing the truncated apolipoprotein, Apo B-89, are cleared from human plasma more rapidly than Apo B-100-containing lipoproteins in vivo. , 1992, The Journal of clinical investigation.

[104]  A. Tall,et al.  Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. , 1990, The New England journal of medicine.

[105]  M. Mihatsch,et al.  Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. , 1986, American journal of nephrology.