{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:38:25Z","timestamp":1763642305466,"version":"3.40.5"},"reference-count":41,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1016\/j.ymgme.2017.11.008","type":"journal-article","created":{"date-parts":[[2017,11,24]],"date-time":"2017-11-24T04:47:06Z","timestamp":1511498826000},"page":"169-176","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene"],"prefix":"10.1016","volume":"123","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5945-7027","authenticated-orcid":false,"given":"Terje","family":"Vinje","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lene","family":"Wier\u00f8d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trond P.","family":"Leren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thea Bismo","family":"Str\u00f8m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.11.008_bb0005","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"1841","article-title":"Structure and metabolism of plasma lipoproteins","author":"Havel","year":"2001"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0010","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1172\/JCI200318925","article-title":"Monogenic hypercholesterolemia: new insights in pathogenesis and treatment","volume":"111","author":"Rader","year":"2003","journal-title":"J. Clin. Invest."},{"year":"1990","series-title":"Cholesterol and Atherosclerosis","author":"Grundy","key":"10.1016\/j.ymgme.2017.11.008_bb0015"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0020","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"2863","article-title":"Familial hypercholesterolemia","author":"Goldstein","year":"2001"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0025","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/j.1365-2796.2009.02167.x","article-title":"The unique role of proprotein convertase subtilisin\/kexin 9 in cholesterol homeostasis","volume":"266","author":"Mousavi","year":"2009","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0030","doi-asserted-by":"crossref","first-page":"6919","DOI":"10.1073\/pnas.84.19.6919","article-title":"Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding","volume":"84","author":"Innerarity","year":"1987","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0035","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.1399-0004.1996.tb04333.x","article-title":"Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia","volume":"49","author":"Gundersen","year":"1996","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0040","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1093\/eurheartj\/ehw028","article-title":"Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217","volume":"37","author":"Benn","year":"2016","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0045","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.atherosclerosis.2013.04.011","article-title":"Simon Broome Register Group, Humphries SE. Analysis of the frequency and spectrum of mutations recognized to cause familial hypercholesterolemia in routine clinical practice in a UK specialist hospital clinic","volume":"229","author":"Futema","year":"2013","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0050","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1111\/j.1432-1033.1994.tb18572.x","article-title":"Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase","volume":"219","author":"Ameis","year":"1994","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0055","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1097\/MOL.0b013e328361f6c6","article-title":"Lysosomal acid lipase A and the hypercholesterolaemic phenotype","volume":"24","author":"Fouchier","year":"2013","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/JCI112262","article-title":"Traficking of lysosomal enzymes in normal and disease states","volume":"77","author":"Kornfeld","year":"1986","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0065","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1146\/annurev.bi.55.070186.001123","article-title":"Lysosomal enzymes and their receptors","volume":"55","author":"von Figura","year":"1986","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0070","series-title":"Valle D","article-title":"Acid lipase deficiency: wolman disease and cholesteryl ester storage disease","author":"Assmann","year":"2001"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0075","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency \u2013 an under-recognized cause of dyslipidaemia and liver dysfunction","volume":"235","author":"Reiner","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0080","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","article-title":"Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease","volume":"58","author":"Bernstein","year":"2013","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0085","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s40256-016-0203-2","article-title":"Sebelipase alfa: a review in lysosomal acid lipase deficiency","volume":"16","author":"Frampton","year":"2016","journal-title":"Am. J. Cardiovasc. Drugs"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0090","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1161\/ATVBAHA.107.146639","article-title":"Prevalence of cholesteryl ester storage disease","volume":"27","author":"Muntoni","year":"2007","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0095","doi-asserted-by":"crossref","unstructured":"Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology 2013; 58: 958\u2013965.","DOI":"10.1002\/hep.26327"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0100","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"2863","article-title":"Type III hyperlipoproteinemia (Dyslipidemia): The role of apolipoprotein E in normal and abnormal lipoprotein metabolism","author":"Mahley","year":"2001"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0105","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1093\/clinchem\/18.6.499","article-title":"Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge","volume":"18","author":"Friedewald","year":"1972","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0110","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0115","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1161\/ATVBAHA.116.308734","article-title":"Coronary artery disease-associated LIPA coding variant rs1051338 reduces lysosomal acid lipase levels and activity in lysosomes","volume":"37","author":"Morris","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0120","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1042\/BJ20130930","article-title":"PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum","volume":"457","author":"Str\u00f8m","year":"2014","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0125","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ymgme.2013.11.003","article-title":"A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease","volume":"111","author":"Dairaku","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0130","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"On behalf of the ACMG laboratory quality assurance. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0135","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0140","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0145","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwartz","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0150","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/mgme.1999.2904","article-title":"Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease","volume":"68","author":"Anderson","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0155","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1172\/JCI116888","article-title":"A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease","volume":"92","author":"Klima","year":"1993","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0160","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/geno.1996.0162","article-title":"Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity","volume":"33","author":"Aslanidis","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0165","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cca.2017.05.027","article-title":"Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2","volume":"471","author":"Lukacs","year":"2017","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0170","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jacl.2016.11.002","article-title":"Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?","volume":"11","author":"Chora","year":"2017","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0175","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.atherosclerosis.2016.07.008","article-title":"Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia","volume":"251","author":"Sjouke","year":"2016","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2017.11.008_bb0180","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.jacl.2015.07.008","article-title":"Identification and metabolic profiling of patients with lysosomal acid lipase deficiency","volume":"9","author":"Pullinger","year":"2015","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0185","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1007\/BF02428304","article-title":"Gradient of distribution in Europe of the major CF mutation and of its associated haplotype","volume":"85","author":"European Working Group on CF Genetics","year":"1990","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0190","doi-asserted-by":"crossref","first-page":"217","DOI":"10.3109\/00365519509089616","article-title":"Identification of the apo B-3500 mutation in the Norwegian population","volume":"55","author":"Leren","year":"1995","journal-title":"Scand J. Lab Invest."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0195","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","article-title":"Performance of mutation pathogenicity prediction methods on missense variants","volume":"31","author":"Thusberg","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2017.11.008_bb0200","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.ygeno.2013.06.005","article-title":"Predicting the functional consequences of non-synonymous DNA sequence variants - evaluation of bioinformatics tools and development of a consensus strategy","volume":"102","author":"Frousios","year":"2013","journal-title":"Genomics"},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2017.11.008_bb0205","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1186\/1471-2164-14-S3-S7","article-title":"Assessment of computational methods for predicting the effects of missense mutations in human cancers","volume":"14","author":"Gnad","year":"2013","journal-title":"BMC Genomics"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306558?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306558?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T18:01:40Z","timestamp":1603389700000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217306558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":41,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["S1096719217306558"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.11.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"type":"print","value":"1096-7192"}],"subject":[],"published":{"date-parts":[[2018,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.11.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}