{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:44:39Z","timestamp":1791114279169,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.jacl.2011.07.002","type":"journal-article","created":{"date-parts":[[2011,8,25]],"date-time":"2011-08-25T14:30:58Z","timestamp":1314282658000},"page":"493-499","source":"Crossref","is-referenced-by-count":24,"title":["Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature"],"prefix":"10.1016","volume":"5","author":[{"given":"Bijan","family":"Roshan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Om P.","family":"Ganda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranil","family":"DeSilva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rose B.","family":"Ganim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmund","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah D.","family":"Haessler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliana Y.","family":"Polisecki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bela F.","family":"Asztalos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst J.","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2011.07.002_bib1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.jacl.2008.06.002","article-title":"Clinical presentation, laboratory values, and coronary heart disease risk in marked high density lipoprotein deficiency states","volume":"2","author":"Santos","year":"2008","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2011.07.002_bib2","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/MOL.0b013e32833c1ef6","article-title":"Marked HDL deficiency and premature coronary heart disease","volume":"21","author":"Schaefer","year":"2010","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jacl.2011.07.002_bib3","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1373\/clinchem.2009.137489","article-title":"Small dense low density lipoprotein cholesterol and coronary heart disease: results from the Framingham Offspring Study","volume":"6","author":"Ai","year":"2010","journal-title":"Clin Chem"},{"key":"10.1016\/j.jacl.2011.07.002_bib4","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1161\/01.ATV.0000146325.93749.a8","article-title":"High-density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants in the Framingham Offspring Study","volume":"24","author":"Asztalos","year":"2004","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2011.07.002_bib5","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1194\/jlr.M600403-JLR200","article-title":"Role of LCAT in HDL remodeling: an investigation in LCAT deficiency states","volume":"48","author":"Asztalos","year":"2007","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2011.07.002_bib6","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1194\/jlr.P900039-JLR200","article-title":"Alterations in cholesterol absorption and synthesis characterize Framingham Offspring study participants with coronary disease","volume":"50","author":"Matthan","year":"2009","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2011.07.002_bib7","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1161\/ATVBAHA.109.196550","article-title":"Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway","volume":"30","author":"van Himbergen","year":"2010","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2011.07.002_bib8","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.1194\/jlr.P900015-JLR200","article-title":"Effects of weight loss, induced by gastric bypass surgery, on HDL remodeling in obese women","volume":"51","author":"Asztalos","year":"2010","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2011.07.002_bib9","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/0006-291X(91)90129-U","article-title":"Lecithin-cholesterol acyl transferase (LCAT) deficiency with a missense mutation in exon 6.of the LCAT gene","volume":"178","author":"Maeda","year":"1991","journal-title":"Biophys Res Commun"},{"key":"10.1016\/j.jacl.2011.07.002_bib10","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/0140-6736(91)90665-C","article-title":"Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency","volume":"338","author":"Gotoda","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.jacl.2011.07.002_bib11","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1016\/0016-5085(85)90642-0","article-title":"Lipoprotein abnormalities in primary biliary cirrhosis: association with hepatic lipase inhibition as well as altered cholesterol esterification","volume":"89","author":"Jahn","year":"1985","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jacl.2011.07.002_bib12","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1161\/01.ATV.2.1.16","article-title":"Plasma apolipoprotein A I absence associated with marked reduction of high density lipoproteins and premature coronary artery disease","volume":"2","author":"Schaefer","year":"1982","journal-title":"Arteriosclerosis"},{"key":"10.1016\/j.jacl.2011.07.002_bib13","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3109\/00365516709076948","article-title":"Familial plasma lecithin:cholesterol acyltransferase deficiency. Biochemical study of a new inborn error of metabolism","volume":"20","author":"Norum","year":"1967","journal-title":"Scand J Clin Lab Med"},{"key":"10.1016\/j.jacl.2011.07.002_bib14","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.0954-6820.1968.tb10449.x","article-title":"Familial serum cholesteryl ester deficiency: clinical study of a patient with a new syndrome","volume":"183","author":"Gjone","year":"1968","journal-title":"Acta Med Scand"},{"key":"10.1016\/j.jacl.2011.07.002_bib15","series-title":"The Metabolic Basic of Inherited Disease","first-page":"1181","article-title":"Familial lecithin: cholesterol acyltransferase deficiency, including fish eye disease","author":"Norum","year":"1989"},{"key":"10.1016\/j.jacl.2011.07.002_bib16","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1097\/ICO.0b013e31819839ae","article-title":"In\u00a0vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency","volume":"28","author":"Palmiero","year":"2009","journal-title":"Cornea"},{"key":"10.1016\/j.jacl.2011.07.002_bib17","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1016\/j.metabol.2009.04.033","article-title":"Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation","volume":"58","author":"Naghashpour","year":"2009","journal-title":"Metabolism"},{"issue":"Suppl","key":"10.1016\/j.jacl.2011.07.002_bib18","first-page":"135","article-title":"Familial lecithin:cholesterol acyltransferase deficiency: studies on lipid composition and morphology of tissues","volume":"33","author":"Stokke","year":"1973","journal-title":"Scand J Clin Lab Invest"},{"key":"10.1016\/j.jacl.2011.07.002_bib19","first-page":"331","article-title":"Lecithin cholesterol acyltransferase deficiency: ultrastructural examination of sequential renal biopsies","volume":"4","author":"Lager","year":"1991","journal-title":"Mod Pathol"},{"key":"10.1016\/j.jacl.2011.07.002_bib20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0021-9150(94)90136-8","article-title":"The role of lipids in nephrosclerosis and glomerulosclerosis","volume":"107","author":"Groene","year":"1994","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2011.07.002_bib21","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1161\/01.ATV.19.3.794","article-title":"Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli","volume":"19","author":"Jimi","year":"1999","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2011.07.002_bib22","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1046\/j.1523-1755.2001.060002520.x","article-title":"Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappaB","volume":"60","author":"Lynn","year":"2001","journal-title":"Kidney Int"},{"key":"10.1016\/j.jacl.2011.07.002_bib23","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1016\/S0002-9440(10)63386-X","article-title":"A novel in\u00a0vivo lecithin-cholesterol acyltransferase (LCAT)-deficient mouse expressing predominantly LpX is associated with spontaneous glomerulopathy","volume":"165","author":"Zhu","year":"2004","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jacl.2011.07.002_bib24","doi-asserted-by":"crossref","first-page":"F1038","DOI":"10.1152\/ajprenal.00150.2004","article-title":"ACAT inhibition reverses LCAT deficiency and improves plasma HDL in chronic renal failure","volume":"287","author":"Vaziri","year":"2004","journal-title":"Am J Physiol Renal Physiol"},{"key":"10.1016\/j.jacl.2011.07.002_bib25","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1124\/jpet.110.169540","article-title":"Effect of recombinant human lecithin-cholesterol:acyltransferase infusion on lipoprotein metabolism in mice","volume":"335","author":"Rousset","year":"2010","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1016\/j.jacl.2011.07.002_bib26","doi-asserted-by":"crossref","first-page":"2116","DOI":"10.1194\/jlr.M400229-JLR200","article-title":"Lipoprotein-X reduces LDL atherogenicity in primary biliary cirrhosis by preventing LDL oxidation","volume":"45","author":"Chang","year":"2004","journal-title":"J\u00a0Lipid Res"},{"key":"10.1016\/j.jacl.2011.07.002_bib27","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1097\/00005176-200410000-00018","article-title":"Resistance to parathyroihormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid","volume":"39","author":"Nakasaka","year":"2004","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jacl.2011.07.002_bib28","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s11748-005-0136-1","article-title":"Cardiac surgery for a patient with familial lecithin:cholesterol acyltransferase deficiency","volume":"53","author":"Miyatake","year":"2005","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.jacl.2011.07.002_bib29","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1159\/000046287","article-title":"Marked atherosclerosis in a patient with familial lecithin:cholesterol acyltransferase deficiency associated with end-stage renal disease and diabetes mellitus","volume":"21","author":"Homma","year":"2001","journal-title":"Am J Nephrol"},{"key":"10.1016\/j.jacl.2011.07.002_bib30","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1038\/327632a0","article-title":"Cloning and sequencing of human cholesteryl ester transfer protein cDNA","volume":"327","author":"Drayna","year":"1987","journal-title":"Nature"},{"key":"10.1016\/j.jacl.2011.07.002_bib31","series-title":"High Density Lipoproteins, Dyslipidemia, and Coronary Heart Disease","first-page":"89","article-title":"Genetic LCAT deficiency: molecular diagnosis, plasma lipids, and atherosclerosis","author":"Calabresi","year":"2010"},{"key":"10.1016\/j.jacl.2011.07.002_bib32","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.atherosclerosis.2009.05.014","article-title":"Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene in FLD phenotype","volume":"207","author":"Baass","year":"2009","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2011.07.002_bib33","unstructured":"Human Gene Mutation Database. Available at: http:\/\/www.hgmd.cf.ac\/index.php."},{"key":"10.1016\/j.jacl.2011.07.002_bib34","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1194\/jlr.M500187-JLR200","article-title":"Differential effects of HDL subpopulations on cellular ABCA1 and SRB1-mediated cholesterol efflux","volume":"46","author":"Asztalos","year":"2005","journal-title":"J Lipid Res"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287411006684?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287411006684?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T14:26:55Z","timestamp":1543588015000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287411006684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S1933287411006684"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2011.07.002","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}