{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T12:24:49Z","timestamp":1780143889286,"version":"3.54.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,6,23]],"date-time":"2018-06-23T00:00:00Z","timestamp":1529712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Jornal de Pediatria"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.jped.2018.05.016","type":"journal-article","created":{"date-parts":[[2018,7,3]],"date-time":"2018-07-03T14:26:50Z","timestamp":1530628010000},"page":"552-558","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Lysosomal acid lipase deficiency in Brazilian children: a case series"],"prefix":"10.1016","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3753-4500","authenticated-orcid":false,"given":"Gabriel Nuncio","family":"Benevides","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene Kazue","family":"Miura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia Canale","family":"Person","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata Pereira Sustovich","family":"Pugliese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera L\u00facia Baggio","family":"Danesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana Roberto","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilda","family":"Porta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jped.2018.05.016_bib0135","unstructured":"Hoffman EP, Barr ML, Giovanni MA, Murray MF. Lysosomal Acid Lipase Deficiency. 2015. p. 1\u201314 [Updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132018. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK305870 [Cited 10.10.17]."},{"key":"10.1016\/j.jped.2018.05.016_bib0140","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"},{"key":"10.1016\/j.jped.2018.05.016_bib0145","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.jped.2018.05.016_bib0150","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/geno.1996.0162","article-title":"Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity","volume":"33","author":"Aslanidis","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.jped.2018.05.016_bib0155","doi-asserted-by":"crossref","first-page":"8487","DOI":"10.1016\/S0021-9258(19)40786-2","article-title":"Role of lysosomal acid lipase in the metabolism density lipoprotein of plasma low density lipoprotein observations in cultured fibroblasts from a patient with cholesteryl ester storage disease","volume":"250","author":"Goldstein","year":"1975","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jped.2018.05.016_bib0160","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ymgme.2011.11.004","article-title":"Structural bases of Wolman disease and cholesteryl ester storage disease","volume":"105","author":"Saito","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2018.05.016_bib0165","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1161\/ATVBAHA.107.146639","article-title":"Prevalence of cholesteryl ester storage disease","volume":"27","author":"Muntoni","year":"2007","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jped.2018.05.016_bib0170","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"},{"key":"10.1016\/j.jped.2018.05.016_bib0175","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency \u2013 an under-recognized cause of dyslipidaemia and liver dysfunction","volume":"235","author":"Reiner \u017d","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jped.2018.05.016_bib0180","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1097\/00005176-198805000-00023","article-title":"Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases","volume":"7","author":"D\u2019Agostino","year":"1988","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2018.05.016_bib0185","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.cca.2012.03.019","article-title":"A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2","volume":"413","author":"Hamilton","year":"2012","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jped.2018.05.016_bib0190","series-title":"Poster presentation in the am assoc hum genet meeting","article-title":"Novel mutations in human lipase A gene","author":"Huang","year":"2014"},{"key":"10.1016\/j.jped.2018.05.016_bib0195","doi-asserted-by":"crossref","first-page":"e20160214","DOI":"10.1542\/peds.2016-0214","article-title":"Lysosomal acid lipase deficiency unmasked in two children with nonalcoholic fatty liver disease","volume":"138","author":"Himes","year":"2016","journal-title":"Pediatrics"},{"key":"10.1016\/j.jped.2018.05.016_bib0200","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"},{"key":"10.1016\/j.jped.2018.05.016_bib0205","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/nrendo.2015.182","article-title":"Dyslipidaemia: lysosomal acid lipase deficiency \u2013 a cautious leap forward","volume":"11","author":"Hollak","year":"2015","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.jped.2018.05.016_bib0210","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.jped.2018.05.016_bib0215","unstructured":"ClinVar. NM_000235.3(LIPA):c.67G>A (p.Gly23Arg). NCBI. 2016. Available from: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/255612\/ [cited 26.10.17]."},{"key":"10.1016\/j.jped.2018.05.016_bib0220","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.jacl.2015.07.008","article-title":"Identification and metabolic profiling of patients with lysosomal acid lipase deficiency","volume":"9","author":"Pullinger","year":"2015","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jped.2018.05.016_bib0225","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s40256-016-0203-2","article-title":"Sebelipase Alfa: a review in lysosomal acid lipase deficiency","volume":"16","author":"Frampton","year":"2016","journal-title":"Am J Cardiovasc Drugs"},{"key":"10.1016\/j.jped.2018.05.016_bib0230","doi-asserted-by":"crossref","first-page":"157","DOI":"10.2147\/TACG.S86760","article-title":"Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa","volume":"9","author":"Su","year":"2016","journal-title":"Appl Clin Genet"},{"key":"10.1016\/j.jped.2018.05.016_bib0235","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":"NEJM"},{"key":"10.1016\/j.jped.2018.05.016_bib0240","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1096\/fasebj.3.2.2644147","article-title":"Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease","volume":"3","author":"Poznansky","year":"1989","journal-title":"FASEB J"},{"key":"10.1016\/j.jped.2018.05.016_bib0245","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ymgme.2018.03.010","article-title":"Lysosomal acid lipase deficiency allograft recurrence and liver failure \u2013 clinical outcomes of 18 liver transplantation patients","volume":"124","author":"Bernstein","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2018.05.016_bib0250","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/bmt.2009.57","article-title":"Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity","volume":"44","author":"Gramatges","year":"2009","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.jped.2018.05.016_bib0255","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/sj.bmt.1702557","article-title":"Wolman disease successfully treated by bone marrow transplantation","volume":"26","author":"Krivit","year":"2000","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.jped.2018.05.016_bib0260","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/bmt.2008.273","article-title":"Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease","volume":"43","author":"Tolar","year":"2009","journal-title":"Bone Marrow Transplant"}],"container-title":["Jornal de Pediatria"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755717309920?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755717309920?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T23:18:48Z","timestamp":1758151128000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021755717309920"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S0021755717309920"],"URL":"https:\/\/doi.org\/10.1016\/j.jped.2018.05.016","relation":{},"ISSN":["0021-7557"],"issn-type":[{"value":"0021-7557","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lysosomal acid lipase deficiency in Brazilian children: a case series","name":"articletitle","label":"Article Title"},{"value":"Jornal de Pediatria","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jped.2018.05.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda.","name":"copyright","label":"Copyright"}]}}