{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:46:04Z","timestamp":1789706764268,"version":"4.0.1"},"reference-count":41,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","lipidjournal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.jacl.2016.03.009","type":"journal-article","created":{"date-parts":[[2016,3,23]],"date-time":"2016-03-23T03:32:47Z","timestamp":1458703967000},"page":"915-921.e4","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene"],"prefix":"10.1016","volume":"10","author":[{"given":"Claudio","family":"Rabacchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-4342","authenticated-orcid":false,"given":"Sergio","family":"D'Addato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Palmisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2029-5120","authenticated-orcid":false,"given":"Tiziano","family":"Lucchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Bertolini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Tarugi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2016.03.009_bib1","doi-asserted-by":"crossref","first-page":"981","DOI":"10.3390\/nu5030981","article-title":"Hypertriglyceridemia","volume":"5","author":"Brahm","year":"2013","journal-title":"Nutrients"},{"key":"10.1016\/j.jacl.2016.03.009_bib2","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1101\/gad.209296.112","article-title":"Biochemistry and pathophysiology of intravascular and intracellular lipolysis","volume":"27","author":"Young","year":"2013","journal-title":"Genes Dev"},{"key":"10.1016\/j.jacl.2016.03.009_bib3","series-title":"\u201cThe Metabolic and Molecular Bases of Inherited Disease\u201d","first-page":"2789","article-title":"Familial lipoprotein lipase deficiency, apoCII deficiency and hepatic lipase deficiency","author":"Brunzell","year":"2001"},{"key":"10.1016\/j.jacl.2016.03.009_bib4","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"},{"key":"10.1016\/j.jacl.2016.03.009_bib5","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/joim.12003","article-title":"Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins","volume":"272","author":"Adeyo","year":"2012","journal-title":"J Intern Med"},{"issue":"Suppl","key":"10.1016\/j.jacl.2016.03.009_bib6","doi-asserted-by":"crossref","first-page":"S57","DOI":"10.1194\/jlr.R800030-JLR200","article-title":"GPIHBP1, a GPI-anchored protein required for the lipolytic processing of triglyceride-rich lipoproteins","volume":"50","author":"Beigneux","year":"2009","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib7","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1161\/01.ATV.0000153087.36428.dd","article-title":"Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia","volume":"25","author":"Priore Oliva","year":"2005","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2016.03.009_bib8","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1016\/j.cca.2011.08.001","article-title":"Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia","volume":"412","author":"Pisciotta","year":"2011","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2016.03.009_bib9","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.jacl.2014.10.003","article-title":"A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene","volume":"9","author":"Buonuomo","year":"2015","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2016.03.009_bib10","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.atherosclerosis.2015.04.815","article-title":"Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia","volume":"241","author":"Rabacchi","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2016.03.009_bib11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0009-8981(03)00129-3","article-title":"An observational study of severe hypertriglyceridemia, hypertriglyceridemic acute pancreatitis, and failure of triglyceride-lowering therapy when estrogens are given to women with and without familial hypertriglyceridemia","volume":"332","author":"Goldenberg","year":"2003","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2016.03.009_bib12","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1016\/S0022-2275(20)31517-0","article-title":"Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy","volume":"42","author":"McGladdery","year":"2001","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib13","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1046\/j.1365-2796.1998.00306.x","article-title":"Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy","volume":"243","author":"Suga","year":"1998","journal-title":"J Intern Med"},{"key":"10.1016\/j.jacl.2016.03.009_bib14","doi-asserted-by":"crossref","first-page":"e0129488","DOI":"10.1371\/journal.pone.0129488","article-title":"Genetic variants associated with gestational hypertriglyceridemia and pancreatitis","volume":"10","author":"Xie","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jacl.2016.03.009_bib15","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.jacl.2014.08.010","article-title":"Familial chylomicronemia syndrome and response to medium chain triglyceride therapy in an infant with novel mutations in GPIHBP1","volume":"8","author":"Ahmad","year":"2014","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2016.03.009_bib16","doi-asserted-by":"crossref","first-page":"30240","DOI":"10.1074\/jbc.M109.046391","article-title":"Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase","volume":"284","author":"Beigneux","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2016.03.009_bib17","doi-asserted-by":"crossref","first-page":"19735","DOI":"10.1074\/jbc.M111.242024","article-title":"Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase","volume":"286","author":"Beigneux","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2016.03.009_bib18","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1161\/CIRCRESAHA.116.305085","article-title":"GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding","volume":"116","author":"Beigneux","year":"2015","journal-title":"Circ Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib19","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/nsmb.1550","article-title":"Nonsense-mediated mRNA decay (NMD) mechanisms","volume":"16","author":"Brogna","year":"2009","journal-title":"Nat Struct Mol Biol"},{"key":"10.1016\/j.jacl.2016.03.009_bib20","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1161\/CIRCGENETICS.109.908905","article-title":"Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects","volume":"3","author":"Franssen","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacl.2016.03.009_bib21","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.plipres.2014.07.002","article-title":"Recent advance in pharmacotherapy for hypertriglyceridemia","volume":"56","author":"Sahebkar","year":"2014","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib22","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S2213-8587(13)70191-8","article-title":"The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management","volume":"2","author":"Hegele","year":"2014","journal-title":"Lancet Diabetes Endocrinol"},{"key":"10.1016\/j.jacl.2016.03.009_bib23","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.jacl.2012.11.006","article-title":"Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat","volume":"7","author":"Blackett","year":"2013","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2016.03.009_bib24","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1161\/CIRCRESAHA.111.300367","article-title":"Antisense oligonucleotide inhibition of apolipoprotein C-III reduces plasma triglycerides in rodents, nonhuman primates, and humans","volume":"112","author":"Graham","year":"2013","journal-title":"Circ Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib25","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1056\/NEJMoa1400284","article-title":"Targeting APOC3 in the familial chylomicronemia syndrome","volume":"371","author":"Gaudet","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jacl.2016.03.009_bib26","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1056\/NEJMoa1400283","article-title":"Antisense inhibition of apolipoprotein C-III in patients with hypertriglyceridemia","volume":"373","author":"Gaudet","year":"2015","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jacl.2016.03.009_bib27","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1161\/ATVBAHA.109.186577","article-title":"Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase","volume":"29","author":"Beigneux","year":"2009","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2016.03.009_bib28","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1161\/CIRCGENETICS.109.908905","article-title":"Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects","volume":"3","author":"Franssen","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacl.2016.03.009_bib29","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1194\/jlr.M002717","article-title":"Mutation of conserved cysteines in Ly6 domain of GPIHBP1 in familial chylomicronemia","volume":"51","author":"Olivecrona","year":"2010","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2016.03.009_bib30","doi-asserted-by":"crossref","first-page":"E1675","DOI":"10.1210\/jc.2011-1444","article-title":"GPIHBP1 C89F neomutation and hydrophobic C.terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia","volume":"96","author":"Charri\u00e8re","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jacl.2016.03.009_bib31","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/j.1365-2796.2011.02361.x","article-title":"Childhood-onset chylomicronemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation","volume":"270","author":"Coca-Prieto","year":"2011","journal-title":"J Intern Med"},{"key":"10.1016\/j.jacl.2016.03.009_bib32","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s10545-011-9406-5","article-title":"Deletion of GPIHBP1 causing severe chylomicronemia","volume":"35","author":"Rios","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jacl.2016.03.009_bib33","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1365-2796.2012.02516.x","article-title":"Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridemia","volume":"272","author":"Surendran","year":"2012","journal-title":"J Intern Med"},{"key":"10.1016\/j.jacl.2016.03.009_bib34","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1161\/CIRCGENETICS.111.960864","article-title":"Excess of rare variants in non-genome-wide association study candidate genes in patients\u00a0with hypertriglyceridemia","volume":"5","author":"Johansen","year":"2012","journal-title":"Circ Cariovasc Genet"},{"key":"10.1016\/j.jacl.2016.03.009_bib35","doi-asserted-by":"crossref","first-page":"777","DOI":"10.5551\/jat.18861","article-title":"Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD","volume":"20","author":"Yamamoto","year":"2013","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2016.03.009_bib36","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.atherosclerosis.2014.02.005","article-title":"Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene","volume":"234","author":"Berge","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2016.03.009_bib37","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1097\/MPG.0000000000000363","article-title":"Whole-exome sequencing reveals GPIHBP1 mutations in a case of infantile colitis with severe hypertriglyceridemia","volume":"59","author":"Gonzaga-Jauregui","year":"2014","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jacl.2016.03.009_bib38","doi-asserted-by":"crossref","first-page":"19491","DOI":"10.1074\/jbc.M114.558528","article-title":"Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain","volume":"289","author":"Plengpanich","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2016.03.009_bib39","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.jacl.2014.08.010","article-title":"Familial chylomicronemia syndrome and response to medium chain triglyceride therapy in an infant with novel mutations in GPIHBP1","volume":"8","author":"Ahmad","year":"2014","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2016.03.009_bib40","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.jacl.2014.10.003","article-title":"A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene","volume":"9","author":"Buonuomo","year":"2015","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2016.03.009_bib41","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.jacl.2015.09.007","article-title":"Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis","volume":"10","author":"Ariza","year":"2016","journal-title":"J Clin Lipidol"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287416300447?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287416300447?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:40:48Z","timestamp":1655340048000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287416300447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["S1933287416300447"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2016.03.009","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2016.03.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 National Lipid Association. All rights reserved.","name":"copyright","label":"Copyright"}]}}