{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T05:08:37Z","timestamp":1772946517417,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004685","name":"Autonomous University of Nuevo Leon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004685","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","lipidjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.jacl.2025.08.005","type":"journal-article","created":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T23:26:46Z","timestamp":1754695606000},"page":"1476-1482","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management"],"prefix":"10.1016","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-4532","authenticated-orcid":false,"given":"Marisol","family":"Ibarra-Ram\u00edrez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6332-4756","authenticated-orcid":false,"given":"Leonor","family":"Hinojosa-Amaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1691-4072","authenticated-orcid":false,"given":"Idalia","family":"Cura-Esquivel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3566-3897","authenticated-orcid":false,"given":"Ulises","family":"Torres-Flores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1442-9089","authenticated-orcid":false,"given":"Laura E","family":"Mart\u00ednez de Villarreal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.jacl.2025.08.005_bib0001","first-page":"100","article-title":"Cholesteryl ester storage disease due to novel mutations in the LIPA gene","volume":"97","author":"Pagani","year":"2009","journal-title":"Mol Genet Metab"},{"issue":"1","key":"10.1016\/j.jacl.2025.08.005_bib0002","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency: an under-recognized cause of dyslipidemia and liver dysfunction","volume":"235","author":"Reiner","year":"2014","journal-title":"Atherosclerosis"},{"issue":"6","key":"10.1016\/j.jacl.2025.08.005_bib0003","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","article-title":"Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease","volume":"58","author":"Bernstein","year":"2013","journal-title":"J Hepatol"},{"issue":"11","key":"10.1016\/j.jacl.2025.08.005_bib0004","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1002\/humu.23837","article-title":"Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency","volume":"40","author":"del Angel","year":"2019","journal-title":"Hum Mutat"},{"issue":"9","key":"10.1016\/j.jacl.2025.08.005_bib0005","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/S2468-1253(17)30052-3","article-title":"Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency","volume":"2","author":"Pericleous","year":"2017","journal-title":"Lancet Gastroenterol Hepatol"},{"key":"10.1016\/j.jacl.2025.08.005_bib0006","unstructured":"Hoffman EP, Barr ML, Giovanni MA, Murray MF. Lysosomal acid lipase deficiency. In: Adam MP, Everman DB, Mirzaa GM, et al., (eds.), GeneReviews\u00ae. University of Washington; 1993\u20132023."},{"issue":"1\u20132","key":"10.1016\/j.jacl.2025.08.005_bib0007","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ymgme.2016.11.002","article-title":"Lysosomal acid lipase deficiency: expanding differential diagnosis","volume":"120","author":"Valayannopoulos","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"7","key":"10.1016\/j.jacl.2025.08.005_bib0008","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1177\/1756283X17705775","article-title":"The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency","volume":"10","author":"Erwin","year":"2017","journal-title":"Ther Adv Gastroenterol"},{"issue":"1","key":"10.1016\/j.jacl.2025.08.005_bib0009","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.jped.2021.03.003","article-title":"Lysosomal acid lipase deficiency in pediatric patients: a scoping review","volume":"98","author":"Witeck","year":"2022","journal-title":"J Pediatr (Rio J)"},{"issue":"6","key":"10.1016\/j.jacl.2025.08.005_bib0010","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1097\/MPG.0b013e31828b36ac","article-title":"Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency","volume":"56","author":"Zhang","year":"2013","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"3","key":"10.1016\/j.jacl.2025.08.005_bib0011","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1002\/hep.26327","article-title":"Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups","volume":"58","author":"Scott","year":"2013","journal-title":"Hepatology"},{"issue":"3","key":"10.1016\/j.jacl.2025.08.005_bib0012","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.ymgme.2011.12.008","article-title":"Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease","volume":"105","author":"Fasano","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacl.2025.08.005_bib0013","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13023-017-0587-3","article-title":"Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study","volume":"12","author":"Jones","year":"2017","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.jacl.2025.08.005_bib0014","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1097\/MPG.0000000000003452","article-title":"Long-term sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency","volume":"74","author":"Burton","year":"2022","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"4","key":"10.1016\/j.jacl.2025.08.005_bib0015","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.aohep.2018.07.005","article-title":"Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency","volume":"18","author":"Consuelo-S\u00e1nchez","year":"2019","journal-title":"Ann Hepatol"},{"issue":"11","key":"10.1016\/j.jacl.2025.08.005_bib0016","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1056\/NEJMoa1501365","article-title":"A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency","volume":"373","author":"Burton","year":"2015","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1016\/j.jacl.2025.08.005_bib0017","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.3390\/nu14051104","article-title":"The effect of dietary interventions on hypertriglyceridemia: from public health to molecular nutrition evidence","volume":"14","author":"Luna-Castillo","year":"2022","journal-title":"Nutrients"},{"issue":"6","key":"10.1016\/j.jacl.2025.08.005_bib0018","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1080\/10408363.2017.1379945","article-title":"The Canadian laboratory initiative on pediatric reference intervals: a CALIPER white paper","volume":"54","author":"Adeli","year":"2017","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"1","key":"10.1016\/j.jacl.2025.08.005_bib0019","first-page":"30","article-title":"Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization","volume":"49","author":"Huffaker","year":"2019","journal-title":"JIMD Rep"},{"issue":"5","key":"10.1016\/j.jacl.2025.08.005_bib0021","doi-asserted-by":"crossref","first-page":"e77","DOI":"10.1016\/j.clinre.2018.03.012","article-title":"Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: two infants treated with sebelipase alfa","volume":"42","author":"Santos Silva","year":"2018","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"10.1016\/j.jacl.2025.08.005_bib0022","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1186\/s13023-019-1129-y","article-title":"Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy","volume":"14","author":"Cohen","year":"2019","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287425003575?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287425003575?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T14:49:49Z","timestamp":1772894989000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287425003575"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S1933287425003575"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2025.08.005","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2025.08.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 National Lipid Association. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}