{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T10:58:40Z","timestamp":1777892320536,"version":"3.51.4"},"reference-count":5,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Royal College of Physicians of Edinburgh"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentation of BSCL in a young adult is rare. We describe a patient with BSCL presenting with cirrhosis. To the best of our knowledge this is the first case of BSCL reported in a Sri Lankan patient.<\/jats:p>","DOI":"10.4997\/jrcpe.2013.406","type":"journal-article","created":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T10:19:22Z","timestamp":1534155562000},"page":"309-311","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of Berardinelli-Seip syndrome presenting with cirrhosis"],"prefix":"10.1177","volume":"43","author":[{"given":"H","family":"Wimalaratna","sequence":"first","affiliation":[{"name":"Consultant Physician, Teaching Hospital, Kandy, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ASD","family":"Nandasiri","sequence":"additional","affiliation":[{"name":"Registrar in Medicine, North Colombo Teaching Hospital, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,12,1]]},"reference":[{"key":"bibr1-JRCPE.2013.406","doi-asserted-by":"publisher","DOI":"10.4103\/2230-8210.83054"},{"key":"bibr2-JRCPE.2013.406","unstructured":"2 Gabbay RA, Khan NR, Arioglu E  Generalized lipodystrophy. New York: Medscape; 2012 [cited 2013 Oct 18]. Available from: http:\/\/emedicine.medscape.com\/article\/128355-overview"},{"key":"bibr3-JRCPE.2013.406","unstructured":"3 Pagon RA, Bird TD, Dolan CR et al (editors). GeneReviews. Seattle: University of Washington; 1993\u20132013."},{"key":"bibr4-JRCPE.2013.406","doi-asserted-by":"crossref","unstructured":"4 Roth T, Nair S, Kumar A. Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl. J Clin Res Pediatr Endocrinol 2010; 2:176\u20139. http:\/\/dx.doi.org\/10.4274\/jcrpe.v2i4.176","DOI":"10.4274\/jcrpe.v2i4.176"},{"key":"bibr5-JRCPE.2013.406","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.79740"}],"container-title":["Journal of the Royal College of Physicians of Edinburgh"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4997\/JRCPE.2013.406","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4997\/JRCPE.2013.406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T06:26:42Z","timestamp":1777616802000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.4997\/JRCPE.2013.406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.4997\/JRCPE.2013.406"],"URL":"https:\/\/doi.org\/10.4997\/jrcpe.2013.406","relation":{},"ISSN":["1478-2715","2042-8189"],"issn-type":[{"value":"1478-2715","type":"print"},{"value":"2042-8189","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}