{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T07:24:21Z","timestamp":1778657061095,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,7,9]],"date-time":"2016-07-09T00:00:00Z","timestamp":1468022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Late\u2010onset <jats:styled-content style=\"fixed-case\">LAL<\/jats:styled-content> deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular complications and hepatosplenomegaly. End\u2010stage liver disease may occur, but there are few reports of successful <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>. There are also concerns that systemic manifestations of the disease might persist post\u2010<jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>. We report a case with excellent outcome eight yr following <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content>. The subject was noted to have asymptomatic hepatosplenomegaly during an intercurrent illness, and <jats:styled-content style=\"fixed-case\">LAL<\/jats:styled-content> deficiency was confirmed with compound heterozygosity in the <jats:italic><jats:styled-content style=\"fixed-case\">LIPA<\/jats:styled-content><\/jats:italic>. Despite dietary fat restriction, he developed signs of progressive liver disease and subsequently developed hepatopulmonary syndrome. He underwent cadaveric <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> at the age of nine and a half yr and recovered with prompt resolution of hepatopulmonary syndrome. Eight yr post\u2010transplant he has normal growth, normal lipid profile, and liver and renal function tests. Liver histology showed no evidence of disease recurrence at this stage. <jats:styled-content style=\"fixed-case\">LT<\/jats:styled-content> in this subject resulted in an excellent functional correction of late\u2010onset <jats:styled-content style=\"fixed-case\">LAL<\/jats:styled-content> deficiency.<\/jats:p>","DOI":"10.1111\/petr.12748","type":"journal-article","created":{"date-parts":[[2016,7,9]],"date-time":"2016-07-09T05:02:47Z","timestamp":1468040567000},"page":"851-854","source":"Crossref","is-referenced-by-count":12,"title":["Successful long\u2010term outcome of liver transplantation in late\u2010onset lysosomal acid lipase deficiency"],"prefix":"10.1111","volume":"20","author":[{"given":"S.","family":"Sreekantam","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Nicklaus\u2010Wollenteit","sequence":"additional","affiliation":[{"name":"Department of Histopathology Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Orr","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology Freeman Hospital Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Sharif","sequence":"additional","affiliation":[{"name":"Department of Hepatology Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Vijay","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. J.","family":"McKiernan","sequence":"additional","affiliation":[{"name":"Department of Hepatology Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Santra","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2013.02.014"},{"key":"e_1_2_6_3_1","first-page":"1184","article-title":"Cholesteryl ester storage disease: An easily missed diagnosis in oligosymptomatic children","volume":"51","author":"Freudenberg F","year":"2013","journal-title":"J Gastroenterol"},{"issue":"1","key":"e_1_2_6_4_1","first-page":"125","article-title":"Lysosomal acid lipase deficiency: Diagnosis and treatment of Wolman and cholesterol ester storage diseases","volume":"12","author":"Porto AF","year":"2014","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_155"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199104000-00016"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-199108000-00028"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199501000-00016"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.26289"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpetr.12748","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.12748","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T22:18:46Z","timestamp":1696198726000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.12748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,9]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1111\/petr.12748"],"URL":"https:\/\/doi.org\/10.1111\/petr.12748","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,9]]}}}