{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:10Z","timestamp":1740164110738,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the lysosomal acid lipase gene (LIPA). We describe the case of a 5-year-old south Asian female incidentally found to have hepatomegaly, and subsequent workup confirmed the diagnosis of CESD. DNA sequencing confirmed the presence of a novel hepatic mutation. It is a four-nucleotide deletion c.57_60delTGAG in exon 2 of the LIPA gene. This mutation is predicted to result in a premature translation stop downstream of the deletion (p.E20fs) and, therefore, is felt to be a disease-causing mutation.<\/jats:p>","DOI":"10.1155\/2015\/347342","type":"journal-article","created":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T16:01:35Z","timestamp":1423152095000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Novel Mutation in a Patient with Cholesterol Ester Storage Disease"],"prefix":"10.1155","volume":"2015","author":[{"given":"Patrick","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"},{"name":"Thomas Jefferson University, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheela","family":"Raikar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"},{"name":"Thomas Jefferson University, Philadelphia, PA 19107, USA"},{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Jimenez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"},{"name":"Thomas Jefferson University, Philadelphia, PA 19107, USA"},{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5537-8698","authenticated-orcid":true,"given":"Katrina","family":"Conard","sequence":"additional","affiliation":[{"name":"Department of Clinical and Anatomic Pathology, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katryn N.","family":"Furuya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"},{"name":"Thomas Jefferson University, Philadelphia, PA 19107, USA"},{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2013.02.014"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1161\/atvbaha.107.146639"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2012-201302"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e31816b5cae"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1172\/jci116888"},{"issue":"2","key":"6","first-page":"148","volume":"48","year":"2006","journal-title":"The Turkish Journal of Pediatrics"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1177\/000456329703400418"},{"issue":"6","key":"8","first-page":"1008","volume":"119","year":"1991","journal-title":"The Journal of Pediatrics"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511x-4-26"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-199108000-00028"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199104000-00016"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.m700482-jlr200"},{"issue":"6","key":"13","first-page":"127","volume":"60","year":"2014","journal-title":"Hepatology"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/347342.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/347342.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/347342.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T06:22:49Z","timestamp":1469600569000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2015\/347342\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"alternative-id":["347342","347342"],"URL":"https:\/\/doi.org\/10.1155\/2015\/347342","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2015]]}}}