{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:55:18Z","timestamp":1791269718703,"version":"4.1.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1016\/j.gene.2015.09.004","type":"journal-article","created":{"date-parts":[[2015,9,6]],"date-time":"2015-09-06T07:18:07Z","timestamp":1441523887000},"page":"359-362","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"P1","title":["Chanarin Dorfman syndrome: a case report with novel nonsense mutation"],"prefix":"10.1016","volume":"575","author":[{"given":"Neerja","family":"Gupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunil","family":"Gothwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit Kumar","family":"Satpathy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Missaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Tavian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasenjit","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipsal","family":"Timila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2015.09.004_bb0005","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1365-4362.1990.tb04758.x","article-title":"DorfmanChanarin syndrome","volume":"29","author":"Nanda","year":"1990","journal-title":"Int. J. Dermatol."},{"key":"10.1016\/j.gene.2015.09.004_bb0010","first-page":"88","article-title":"Dorfman\u2013Chanarin syndrome: a rare neutral lipid storage disease","volume":"37","author":"Tullu","year":"2000","journal-title":"Indian Pediatr."},{"key":"10.1016\/j.gene.2015.09.004_bb0015","first-page":"1054","article-title":"Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up","volume":"42","author":"Gupta","year":"2005","journal-title":"Indian Pediatr."},{"key":"10.1016\/j.gene.2015.09.004_bb0020","doi-asserted-by":"crossref","first-page":"332","DOI":"10.4103\/0022-3859.138826","article-title":"Chanarin Dorfman syndrome: clinical report and novel mutation in ABHD5 gene","volume":"60","author":"Tamhankar","year":"2014","journal-title":"J. Postgrad. Med."},{"issue":"5","key":"10.1016\/j.gene.2015.09.004_bb0025","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/pde.12170","article-title":"Acitretin-responsive ichthyosis in Chanarin\u2013Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene","volume":"31","author":"Srinivasaraghavan","year":"2014","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.gene.2015.09.004_bb0030","series-title":"Nelson Textbook of Pediatrics","first-page":"589","article-title":"Disorders of lipoprotein metabolism and transport","volume":"vol. 1","author":"Neal","year":"2007"},{"issue":"2","key":"10.1016\/j.gene.2015.09.004_bb0035","doi-asserted-by":"crossref","first-page":"E289","DOI":"10.1152\/ajpendo.00099.2009","article-title":"Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5","volume":"297","author":"Schweiger","year":"2009","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.gene.2015.09.004_bb0040","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1471-2350-15-32","article-title":"Early onset of Chanarin\u2013Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter","volume":"15","author":"Missaglia","year":"2014","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.gene.2015.09.004_bb0045","article-title":"Chanarin\u2013Dorfman syndrome in three siblings in a non-consanguineous family","author":"Moyano","year":"2014","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"issue":"3","key":"10.1016\/j.gene.2015.09.004_bb0050","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.jdermsci.2014.05.009","article-title":"Dorfman\u2013Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6","volume":"75","author":"Sugiura","year":"2014","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.gene.2015.09.004_bb0055","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1086\/324121","article-title":"Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome","volume":"69","author":"Lefevre","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.09.004_bb0060","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-5-33","article-title":"Clinical and genetic characterization of ChanarineDorfman syndrome patients: first report of large deletions in the ABHD5 gene","volume":"5","author":"Redaelli","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.gene.2015.09.004_bb0065","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.ejmg.2010.03.002","article-title":"Molecular analysis of Chanarin\u2013Dorfman syndrome (CDS) patients: identification of novel mutations in the ABHD5 gene","volume":"53","author":"Emre","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2015.09.004_bb0070","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1046\/j.1523-1747.2003.12520.x","article-title":"Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman\u2013Chanarin syndrome","volume":"121","author":"Akiyama","year":"2003","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.gene.2015.09.004_bb0075","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.jhep.2008.05.027","article-title":"Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation","volume":"49","author":"Ronchetti","year":"2008","journal-title":"J. Hepatol."},{"key":"10.1016\/j.gene.2015.09.004_bb0080","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1136\/adc.77.2.183c","article-title":"Neutral lipid storage disease \u2014 response to dietary intervention","volume":"77","author":"Kakourou","year":"1997","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.gene.2015.09.004_bb0085","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ana.410070104","article-title":"Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation","volume":"7","author":"Angelini","year":"1980","journal-title":"Ann. Neurol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915010847?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915010847?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T13:28:18Z","timestamp":1537363698000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111915010847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["S0378111915010847"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2015.09.004","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Chanarin Dorfman syndrome: a case report with novel nonsense mutation","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2015.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}