{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T08:18:36Z","timestamp":1789805916974,"version":"4.0.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Fondation Leducq Transatlantic Networks of Excellence","award":["13CVD03"],"award-info":[{"award-number":["13CVD03"]}]}],"content-domain":{"domain":["lipidjournal.com","clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.jacl.2018.01.011","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T14:45:41Z","timestamp":1517496341000},"page":"506-510","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome"],"prefix":"10.1016","volume":"12","author":[{"given":"Martine","family":"Paquette","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Par\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Baass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.jacl.2018.01.011_bib1","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/nrendo.2015.26","article-title":"Chylomicronaemia\u2013current diagnosis and future therapies","volume":"11","author":"Brahm","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"7","key":"10.1016\/j.jacl.2018.01.011_bib2","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1016\/j.cjca.2016.12.019","article-title":"Lipid metabolism and emerging targets for lipid-lowering therapy","volume":"33","author":"Gaudet","year":"2017","journal-title":"Can J Cardiol"},{"issue":"3","key":"10.1016\/j.jacl.2018.01.011_bib3","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.jacl.2015.12.023","article-title":"Editorial commentary: dietary management of familial chylomicronemia syndrome","volume":"10","author":"Williams","year":"2016","journal-title":"J Clin Lipidol"},{"issue":"4","key":"10.1016\/j.jacl.2018.01.011_bib4","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.jacl.2016.03.009","article-title":"Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene","volume":"10","author":"Rabacchi","year":"2016","journal-title":"J Clin Lipidol"},{"issue":"11","key":"10.1016\/j.jacl.2018.01.011_bib5","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1194\/jlr.R018689","article-title":"GPIHBP1, an endothelial cell transporter for lipoprotein lipase","volume":"52","author":"Young","year":"2011","journal-title":"J Lipid Res"},{"issue":"4","key":"10.1016\/j.jacl.2018.01.011_bib6","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.cmet.2007.02.002","article-title":"Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons","volume":"5","author":"Beigneux","year":"2007","journal-title":"Cell Metab"},{"issue":"1","key":"10.1016\/j.jacl.2018.01.011_bib7","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.cmet.2010.04.016","article-title":"GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries","volume":"12","author":"Davies","year":"2010","journal-title":"Cell Metab"},{"issue":"3","key":"10.1016\/j.jacl.2018.01.011_bib8","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1097\/MOL.0b013e32832ac026","article-title":"GPIHBP1 and lipolysis: an update","volume":"20","author":"Beigneux","year":"2009","journal-title":"Curr Opin Lipidol"},{"issue":"6","key":"10.1016\/j.jacl.2018.01.011_bib9","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1194\/jlr.M700593-JLR200","article-title":"Glycosylation of Asn-76 in mouse GPIHBP1 is critical for its appearance on the cell surface and the binding of chylomicrons and lipoprotein lipase","volume":"49","author":"Beigneux","year":"2008","journal-title":"J Lipid Res"},{"issue":"43","key":"10.1016\/j.jacl.2018.01.011_bib10","doi-asserted-by":"crossref","first-page":"29554","DOI":"10.1074\/jbc.M802579200","article-title":"The acidic domain of GPIHBP1 is important for the binding of lipoprotein lipase and chylomicrons","volume":"283","author":"Gin","year":"2008","journal-title":"J Biol Chem"},{"issue":"17","key":"10.1016\/j.jacl.2018.01.011_bib11","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1056\/NEJMoa1611930","article-title":"Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia","volume":"376","author":"Beigneux","year":"2017","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1016\/j.jacl.2018.01.011_bib12","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.bbalip.2011.10.007","article-title":"Allelic and phenotypic spectrum of plasma triglycerides","volume":"1821","author":"Johansen","year":"2012","journal-title":"Biochim Biophys Acta"},{"issue":"8","key":"10.1016\/j.jacl.2018.01.011_bib13","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1161\/ATVBAHA.111.226365","article-title":"An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia","volume":"31","author":"Johansen","year":"2011","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"1","key":"10.1016\/j.jacl.2018.01.011_bib14","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10545-014-9767-7","article-title":"Inborn errors of cytoplasmic triglyceride metabolism","volume":"38","author":"Wu","year":"2015","journal-title":"J Inherit Metab Dis"},{"issue":"10","key":"10.1016\/j.jacl.2018.01.011_bib15","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1038\/ejhg.2014.8","article-title":"A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia","volume":"22","author":"Joshi","year":"2014","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.jacl.2018.01.011_bib16","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s10545-016-9956-7","article-title":"Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency","volume":"39","author":"Dionisi-Vici","year":"2016","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.jacl.2018.01.011_bib17","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ajhg.2011.11.028","article-title":"Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1","volume":"90","author":"Basel-Vanagaite","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jacl.2018.01.011_bib18","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.jacl.2007.11.001","article-title":"Hypertriglyceridemia-induced pancreatitis created by oral estrogen and in\u00a0vitro fertilization ovulation induction","volume":"2","author":"Lee","year":"2008","journal-title":"J Clin Lipidol"},{"issue":"1","key":"10.1016\/j.jacl.2018.01.011_bib19","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.jacl.2016.12.006","article-title":"Estrogen-associated severe hypertriglyceridemia with pancreatitis","volume":"11","author":"Aljenedil","year":"2017","journal-title":"J Clin Lipidol"},{"issue":"2","key":"10.1016\/j.jacl.2018.01.011_bib20","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1023\/A:1014404016609","article-title":"Severe hypertriglyceridemia and pancreatitis following hormone replacement prior to cryothaw transfer","volume":"19","author":"Ruman","year":"2002","journal-title":"J Assist Reprod Genet"},{"key":"10.1016\/j.jacl.2018.01.011_bib21","first-page":"485493","article-title":"Severe hypertriglyceridemia induced pancreatitis in pregnancy","volume":"2014","author":"Gupta","year":"2014","journal-title":"Case Rep Obstet Gynecol"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S193328741830031X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S193328741830031X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T21:37:12Z","timestamp":1668807432000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S193328741830031X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S193328741830031X"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2018.01.011","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2018.01.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 National Lipid Association. All rights reserved.","name":"copyright","label":"Copyright"}]}}