{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:19:56Z","timestamp":1790518796399,"version":"4.1.0"},"reference-count":137,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T00:00:00Z","timestamp":1617840000000},"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":[[2022,1]]},"DOI":"10.1016\/j.jped.2021.03.003","type":"journal-article","created":{"date-parts":[[2021,5,6]],"date-time":"2021-05-06T07:09:31Z","timestamp":1620284971000},"page":"4-14","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Lysosomal acid lipase deficiency in pediatric patients: a scoping review"],"prefix":"10.1016","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0125-5836","authenticated-orcid":false,"given":"Camila da Rosa","family":"Witeck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8999-8588","authenticated-orcid":false,"given":"Anne Calbusch","family":"Schmitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6508-3503","authenticated-orcid":false,"given":"J\u00falia Meller Dias","family":"de Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4379-9695","authenticated-orcid":false,"given":"Andr\u00e9 Lu\u00eds","family":"Porporatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7986-8317","authenticated-orcid":false,"given":"Graziela","family":"De Luca Canto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5502-7436","authenticated-orcid":false,"given":"Maria Marlene de Souza","family":"Pires","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jped.2021.03.003_bib0001","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.2021.03.003_bib0002","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.jhep.2018.09.028","article-title":"The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD","volume":"70","author":"Carter","year":"2019","journal-title":"J Hepatol"},{"key":"10.1016\/j.jped.2021.03.003_bib0003","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1097\/MPG.0000000000000935","article-title":"Clinical features of lysosomal acid lipase deficiency","volume":"61","author":"Burton","year":"2015","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0004","first-page":"301","article-title":"Wolman's disease: report of 3 cases","volume":"26","author":"Pastor Bevia","year":"1987","journal-title":"An Esp Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0005","first-page":"S57","article-title":"Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency","volume":"111","author":"Jones","year":"2014","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0006","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/gim.2015.108","article-title":"Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants","volume":"18","author":"Jones","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0007","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.2021.03.003_bib0008","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1136\/jclinpath-2012-201302","article-title":"Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis","volume":"66","author":"Reynolds","year":"2013","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.jped.2021.03.003_bib0009","doi-asserted-by":"crossref","first-page":"79","DOI":"10.2147\/HMER.S201630","article-title":"Lysosomal acid lipase deficiency - early diagnosis is the key","volume":"11","author":"Strebinger","year":"2019","journal-title":"Hepat Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0010","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.2021.03.003_bib0011","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"},{"key":"10.1016\/j.jped.2021.03.003_bib0012","doi-asserted-by":"crossref","first-page":"467","DOI":"10.7326\/M18-0850","article-title":"PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation","volume":"169","author":"Tricco","year":"2018","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0013","series-title":"Lysosomal Acid Lipase Deficiency in pediatric patients: a scoping review","author":"Witeck","year":"2020"},{"key":"10.1016\/j.jped.2021.03.003_bib0014","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1007\/s100249900164","article-title":"Cholesteryl ester storage disease: case report during childhood","volume":"2","author":"Akcoren","year":"1999","journal-title":"Pediatr Dev Pathol"},{"key":"10.1016\/j.jped.2021.03.003_bib0015","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1093\/labmed\/lmy027","article-title":"Differential diagnosis of a patient with lysosomal acid lipase deficiency: a case report","volume":"49","author":"Akki","year":"2018","journal-title":"Lab Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0016","doi-asserted-by":"crossref","first-page":"120","DOI":"10.5144\/0256-4947.1998.120","article-title":"Wolman's disease: the king faisal specialist hospital and research centre experience","volume":"18","author":"Al Essa","year":"1998","journal-title":"Ann Saudi Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0017","first-page":"93","article-title":"A turkish case of wolman disease with microcephaly","volume":"30","author":"Fatma Mujgan","year":"2013","journal-title":"The New Journal of Medicine"},{"key":"10.1016\/j.jped.2021.03.003_bib0018","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/mgme.1999.2904","article-title":"Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease","volume":"68","author":"Anderson","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0019","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000401635","article-title":"Ocular findings in acid lipase deficiency","volume":"9","author":"Arbisser","year":"1978","journal-title":"Monogr Hum Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0020","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0022-3476(77)80557-X","article-title":"Cholesterol ester storage disease: clinical, biochemical, and pathological studies","volume":"90","author":"Beaudet","year":"1977","journal-title":"J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0021","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.arcped.2016.07.003","article-title":"Wolman disease","volume":"23","author":"Ben Hassine","year":"2016","journal-title":"Arch Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0022","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/uog.73","article-title":"Isolated fetal ascites caused by Wolman disease","volume":"21","author":"Ben-Haroush","year":"2003","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.jped.2021.03.003_bib0023","article-title":"Lysosomal acid lipase deficiency in Brazilian children: a case series","author":"Benevides","year":"2018","journal-title":"Jornal de Pediatria"},{"key":"10.1016\/j.jped.2021.03.003_bib0024","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1177\/0883073807307104","article-title":"Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India","volume":"22","author":"Bindu","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jped.2021.03.003_bib0025","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.prp.2003.11.001","article-title":"Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy","volume":"200","author":"Boldrini","year":"2004","journal-title":"Pathol Res Pract"},{"key":"10.1016\/j.jped.2021.03.003_bib0026","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/BF01800432","article-title":"Wolman's disease: clinical and biochemical findings of a new case","volume":"11","author":"Bona","year":"1988","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0027","doi-asserted-by":"crossref","first-page":"669","DOI":"10.12659\/AJCR.908808","article-title":"Lysosomal acid lipase deficiency, a rare pathology: the first pediatric patient reported in Colombia","volume":"19","author":"Botero","year":"2018","journal-title":"Am J Case Rep"},{"key":"10.1016\/j.jped.2021.03.003_bib0028","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1046\/j.1365-2141.2003.04406.x","article-title":"Wolman's disease in an infant","volume":"122","author":"Browne","year":"2003","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jped.2021.03.003_bib0029","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1002\/ajmg.1320240416","article-title":"Clinicopathologic conference: pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD)","volume":"24","author":"Cagle","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0030","first-page":"261","article-title":"Case report of a LAL-D infant presentation: going beyond known boundaries","volume":"5","author":"Camelo","year":"2017"},{"key":"10.1016\/j.jped.2021.03.003_bib0031","doi-asserted-by":"crossref","first-page":"150","DOI":"10.5152\/jarem.2019.2221","article-title":"A new mutation in diagnosis of wolman disease: case report","volume":"9","author":"Cansever","year":"2019","journal-title":"JAREM"},{"key":"10.1016\/j.jped.2021.03.003_bib0032","first-page":"49","article-title":"Lysosomal acid lipase deficiency. Report of two cases","volume":"83","author":"Carbajal-Rodr\u00edguez","year":"2016","journal-title":"Rev Mex Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0033","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1097\/MPH.0000000000001552","article-title":"Hemophagocytic lymphohistiocytosis: a rare complication of an ultrarare lysosomal storage disease","volume":"42","author":"Chabchoub","year":"2020","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.jped.2021.03.003_bib0034","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/pch\/pxx036","article-title":"Eight-year-old girl with hepatomegaly","volume":"22","author":"Chen","year":"2017","journal-title":"Paediatr Child Health"},{"key":"10.1016\/j.jped.2021.03.003_bib0035","doi-asserted-by":"crossref","unstructured":"Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, et al. Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis.14:198.","DOI":"10.1186\/s13023-019-1129-y"},{"key":"10.1016\/j.jped.2021.03.003_bib0036","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/4375434","article-title":"Lysosomal acid lipase deficiency: report of five cases across the age spectrum","author":"Curiati","year":"2018","journal-title":"Case Rep Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0037","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/j.1536-4801.1988.tb09563.x","article-title":"Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases","volume":"7","author":"D'Agostino","year":"1988","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0038","first-page":"148","article-title":"Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin","volume":"48","author":"Dalgic","year":"2006","journal-title":"Turk J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0039","doi-asserted-by":"crossref","unstructured":"De Las Heras J, Ald\u00e1miz-Echevarria L, Arranz L, Labayru M, Perez E, Andrade F, et al. Wolman disease, atypical presentation without marked hepatomegaly or hypertransaminasemia. Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017. J Inborn Error Metabol Screen. 2017;5:338.","DOI":"10.1177\/2326409817722292"},{"key":"10.1016\/j.jped.2021.03.003_bib0040","first-page":"113","article-title":"Importance of liver biopsy in the diagnosis of lysosomal acid lipase deficiency: a case report","volume":"36","author":"De Tommaso","year":"2017","journal-title":"Rev Paul Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0041","doi-asserted-by":"crossref","first-page":"S11","DOI":"10.1007\/s10545-008-1027-2","article-title":"Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease","volume":"32","author":"Decarlis","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0042","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1002\/ajmg.1320260324","article-title":"Cholesteryl ester storage disease: pathologic changes in an affected fetus","volume":"26","author":"Desai","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0043","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1002\/hep.1840110509","article-title":"Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin","volume":"11","author":"Di Bisceglie","year":"1990","journal-title":"Hepatology"},{"key":"10.1016\/j.jped.2021.03.003_bib0044","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/BF02388726","article-title":"Wolman's disease. Ultrasound and CT diagnosis","volume":"15","author":"Dutton","year":"1985","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.jped.2021.03.003_bib0045","first-page":"687","article-title":"Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess","volume":"83","author":"Edelstein","year":"1988","journal-title":"Am J Gastroenterol"},{"key":"10.1016\/j.jped.2021.03.003_bib0046","first-page":"545","article-title":"Wolman disease in a Pakistani infant","volume":"130","author":"Ellis","year":"1976","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.jped.2021.03.003_bib0047","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.ejmhg.2015.08.005","article-title":"Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations Wolman disease presenting as FHL","volume":"17","author":"Elsayed","year":"2016","journal-title":"Egypt JMed Hum Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0048","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.jped.2021.03.003_bib0049","first-page":"376","article-title":"Liver transplantation for cholesteryl ester storage disease","volume":"12","author":"Ferry","year":"1991","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0050","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1055\/s-0033-1350463","article-title":"Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children","volume":"51","author":"Freudenberg","year":"2013","journal-title":"Z Gastroenterol"},{"key":"10.1016\/j.jped.2021.03.003_bib0051","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<377::AID-HUMU15>3.0.CO;2-#","article-title":"A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease","volume":"8","author":"Fujiyama","year":"1996","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1016\/j.jped.2021.03.003_bib0052","doi-asserted-by":"crossref","first-page":"e22","DOI":"10.1097\/MPG.0000000000000175","article-title":"New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease)","volume":"60","author":"Gomez-Najera","year":"2015","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0053","doi-asserted-by":"crossref","first-page":"e489","DOI":"10.1097\/MPH.0000000000000861","article-title":"Wolman disease: a mimic of infant leukemia","volume":"39","author":"Gopakumar","year":"2017","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.jped.2021.03.003_bib0054","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1097\/MPG.0b013e31819f659b","article-title":"Gallbladder dysfunction in cholesterol ester storage disease","volume":"50","author":"Haller","year":"2010","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0055","doi-asserted-by":"crossref","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.2021.03.003_bib0056","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0005-2760(82)90009-1","article-title":"Characterization of neutral and acid ester hydrolase in Wolman's disease","volume":"711","author":"Hoeg","year":"1982","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jped.2021.03.003_bib0057","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1272\/jnms.2018_85-20","article-title":"Lysosomal acid lipase deficiency in Japan: a case report of siblings and a literature review of cases in Japan","volume":"85","author":"Ikari","year":"2018","journal-title":"J Nippon Med Sch"},{"issue":"2","key":"10.1016\/j.jped.2021.03.003_bib0058","first-page":"S63","article-title":"B-and T-cell immune suppression in a Native American infant with Wolman disease","volume":"117","author":"Julien","year":"2016","journal-title":"Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0059","first-page":"130","article-title":"Cholesteryl ester storage disease \u2013 a rare presentation","volume":"19","author":"Karmaker","year":"2018","journal-title":"J Medicine (Bangladesh)"},{"key":"10.1016\/j.jped.2021.03.003_bib0060","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s12664-012-0253-6","article-title":"Intractable ascites as a manifestation of Wolman's disease: report of two sibs","volume":"31","author":"Kathuria","year":"2012","journal-title":"Indian J Gastroenterol"},{"key":"10.1016\/j.jped.2021.03.003_bib0061","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0006-2944(85)90123-1","article-title":"Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease","volume":"33","author":"Kelly","year":"1985","journal-title":"Biochem Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0062","first-page":"65","article-title":"Evaluation of jejunal function in Wolman's disease","volume":"12","author":"Kikuchi","year":"1991","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0063","doi-asserted-by":"crossref","first-page":"263","DOI":"10.5223\/pghn.2017.20.4.263","article-title":"A novel homozygous LIPA mutation in a Korean child with lysosomal acid lipase deficiency","volume":"20","author":"Kim","year":"2017","journal-title":"Pediatr Gastroenterol Hepatol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0064","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1172\/JCI116888","article-title":"A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease","volume":"92","author":"Klima","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jped.2021.03.003_bib0065","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/BF01805475","article-title":"Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease","volume":"8","author":"Kostner","year":"1985","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0066","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1056\/NEJMicm1711735","article-title":"Adrenal calcifications in an infant","volume":"378","author":"Krause","year":"2018","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0067","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.2021.03.003_bib0068","first-page":"264","article-title":"Secondary hemophagocytic lymphohistiocytosis in an infant with wolman disease","volume":"34","author":"Kucukcongar Yavas","year":"2017","journal-title":"Turk J Haematol"},{"key":"10.1016\/j.jped.2021.03.003_bib0069","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/MPG.0000000000002224","article-title":"The frequency of lysosomal acid lipase deficiency in children with unexplained liver disease","volume":"68","author":"Kuloglu","year":"2019","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0070","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/hepr.12574","article-title":"Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: a case report","volume":"46","author":"Kuranobu","year":"2016","journal-title":"Hepatol Res"},{"key":"10.1016\/j.jped.2021.03.003_bib0071","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1055\/s-0038-1669445","article-title":"Failure to thrive: an expanded differential diagnosis","volume":"8","author":"Lazzara","year":"2019","journal-title":"J Pediatr Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0072","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.ymgme.2011.09.006","article-title":"Intragenic deletion as a novel type of mutation in Wolman disease","volume":"104","author":"Lee","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0073","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF03259224","article-title":"A paediatric clinical phenotype variant of lysosomal acid lipase deficiency responsive to an HMG CoA reductase inhibitor (Simvastatin) plus Cholestyramine","volume":"5","author":"Leone","year":"1993","journal-title":"Drug Invest"},{"issue":"9","key":"10.1016\/j.jped.2021.03.003_bib0074","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1007\/s00112-002-0576-y","article-title":"Cholesteryl ester storage disease as cause of hepatomegaly in childhood","volume":"151","author":"Limbach","year":"2003","journal-title":"Monatsschrift fur Kinderheilkunde"},{"key":"10.1016\/j.jped.2021.03.003_bib0075","article-title":"Progressive macrophage accumulation in lysosomal acid lipase deficiency","volume":"23","author":"Lipi\u0144ski","year":"2020","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.jped.2021.03.003_bib0076","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1097\/MPG.0000000000002084","article-title":"Diagnostic algorithm for cholesteryl ester storage disease: clinical presentation in 19 Polish patients","volume":"67","author":"Lipi\u0144ski","year":"2018","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0077","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF01804219","article-title":"Cholesteryl ester storage disease: risk factors for atherosclerosis in a 15-year-old boy","volume":"11","author":"Longhi","year":"1988","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0078","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.jacl.2017.02.006","article-title":"Lysosomal acid lipase deficiency in all siblings of the same parents","volume":"11","author":"Maciejko","year":"2017","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jped.2021.03.003_bib0079","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1080\/02724936.1991.11747520","article-title":"Wolmans-disease in a Jordanian infant","volume":"11","author":"Mahdi","year":"1991","journal-title":"Ann Trop Paediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0080","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1023\/A:1005428122457","article-title":"Fatal genetic defect causing Wolman disease","volume":"22","author":"Mayatepek","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0081","first-page":"453","author":"McCoy","year":"1991"},{"issue":"4","key":"10.1016\/j.jped.2021.03.003_bib0082","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0271-5317(85)80226-8","article-title":"The use of parenteral hyperalimentation and elemental formula feeding in the treatment of Wolman disease","volume":"5","author":"Meyers","year":"1985","journal-title":"Nutrition Research"},{"key":"10.1016\/j.jped.2021.03.003_bib0083","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0022-3476(79)80033-5","article-title":"Pulmonary vascular obstruction associated with cholesteryl ester storage disease","volume":"94","author":"Michels","year":"1979","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.jped.2021.03.003_bib0084","doi-asserted-by":"crossref","first-page":"193","DOI":"10.3109\/15513818909022349","article-title":"Case 4. Wolman's disease","volume":"9","author":"Mitsudo","year":"1989","journal-title":"Pediatr Pathol"},{"key":"10.1016\/j.jped.2021.03.003_bib0085","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1212\/WNL.42.5.1120","article-title":"Muscle involvement in cholesterol ester storage disease","volume":"42","author":"Navarro","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.jped.2021.03.003_bib0086","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/s00247-003-0873-1","article-title":"Ultrasound appearance of bowel wall in Wolman's disease","volume":"33","author":"Nchimi","year":"2003","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.jped.2021.03.003_bib0087","first-page":"A122","article-title":"P230 Liver cirrhosis as outcome of cholesterol esters storage due to lysosomal acid lipase deficiency","volume":"102","author":"Gundobina","year":"2017","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jped.2021.03.003_bib0088","first-page":"489","article-title":"Wolman's disease\u2013an unusual presentation","volume":"63","author":"Orme","year":"1970","journal-title":"Proc R Soc Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0089","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1016\/S0022-2275(20)32518-9","article-title":"New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease","volume":"39","author":"Pagani","year":"1998","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jped.2021.03.003_bib0090","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/3.9.1605","article-title":"A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease","volume":"3","author":"Pagani","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0091","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ymgme.2009.02.007","article-title":"Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene","volume":"97","author":"Pisciotta","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0092","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.atherosclerosis.2017.08.021","article-title":"Molecular and clinical characterization of a series ofpatients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants","volume":"265","author":"Pisciotta","year":"2017","journal-title":"Atherosclerosis"},{"issue":"1","key":"10.1016\/j.jped.2021.03.003_bib0093","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacl.2016.11.008","article-title":"Childhood\/adult-onset lysosomal acid lipase deficiency: a serious metabolic and vascular phenotype beyond liver disease\u2014four new pediatric cases","volume":"11","author":"Poinsot","year":"2017","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jped.2021.03.003_bib0094","doi-asserted-by":"crossref","first-page":"576","DOI":"10.3109\/08880018.2014.920942","article-title":"Wolman's disease with secondary hemophagocytic lymphohistiocytosis","volume":"31","author":"Rabah","year":"2014","journal-title":"Pediatr Hematol Oncol"},{"key":"10.1016\/j.jped.2021.03.003_bib0095","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1016\/S0022-2275(20)39119-7","article-title":"A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred","volume":"37","author":"Ries","year":"1996","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jped.2021.03.003_bib0096","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.dld.2008.01.009","article-title":"Hepatocarcinoma in a child with cholesterol ester storage disease","volume":"40","author":"Riva","year":"2008","journal-title":"Dig Liver Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0097","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1992.tb03125.x","article-title":"Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases","volume":"42","author":"Roytta","year":"1992","journal-title":"Clin Genet"},{"key":"10.1016\/j.jped.2021.03.003_bib0098","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2013-202652","article-title":"Infant case of lysosomal acid lipase deficiency: wolman's disease","volume":"2014","author":"Sadhukhan","year":"2014","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.jped.2021.03.003_bib0099","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.3748\/wjg.v21.i3.1001","article-title":"Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency","volume":"21","author":"Santillan-Hernandez","year":"2015","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.jped.2021.03.003_bib0100","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.jped.2021.03.003_bib0101","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF00445892","article-title":"Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification","volume":"135","author":"Schaub","year":"1980","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0102","first-page":"597","article-title":"The Middle-East connection of Wolman disease","volume":"23","author":"Shome","year":"2002","journal-title":"Saudi Med J"},{"key":"10.1016\/j.jped.2021.03.003_bib0103","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1111\/petr.12748","article-title":"Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency","volume":"20","author":"Sreekantam","year":"2016","journal-title":"Pediatr Transplant"},{"key":"10.1016\/j.jped.2021.03.003_bib0104","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s00431-006-0298-6","article-title":"Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation","volume":"166","author":"Stein","year":"2007","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0105","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/BF02724020","article-title":"Wolman disease: diagnosis by leucocyte acid lipase estimation","volume":"72","author":"Surve","year":"2005","journal-title":"Indian J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0106","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0009-8981(76)90499-X","article-title":"Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of Wolman's disease?","volume":"69","author":"Suzuki","year":"1976","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jped.2021.03.003_bib0107","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1476-511X-4-26","article-title":"Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease","volume":"4","author":"Tadiboyina","year":"2005","journal-title":"Lipids Health Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0108","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0022-3476(05)81866-9","article-title":"Lovastatin therapy for cholesterol ester storage disease in two sisters","volume":"118","author":"Tarantino","year":"1991","journal-title":"J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0109","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1007\/s00431-014-2338-y","article-title":"Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation","volume":"173","author":"Taurisano","year":"2014","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jped.2021.03.003_bib0110","doi-asserted-by":"crossref","first-page":"e193","DOI":"10.1097\/MPH.0000000000001192","article-title":"A novel mutation c.153 C>A in a Tunisian girl with Wolman disease and unusual presentation: Hemophagocytic Lymphohistiocytosis","volume":"41","author":"Tinsa","year":"2019","journal-title":"J Pediatr Hematol Oncol"},{"issue":"1","key":"10.1016\/j.jped.2021.03.003_bib0111","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"},{"issue":"1","key":"10.1016\/j.jped.2021.03.003_bib0112","doi-asserted-by":"crossref","first-page":"56","DOI":"10.36290\/ped.2017.011","article-title":"The rare case of boy with diagnosis LAL-D","volume":"18","author":"\u0164ouk\u00e1lkov\u00e1","year":"2017","journal-title":"Pediatr praxi"},{"key":"10.1016\/j.jped.2021.03.003_bib0113","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1111\/j.1442-200X.1997.tb03660.x","article-title":"Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease","volume":"39","author":"Tylki-Szymanska","year":"1997","journal-title":"Acta Paediatr Jpn"},{"key":"10.1016\/j.jped.2021.03.003_bib0114","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.2021.03.003_bib0115","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/BF01804220","article-title":"Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency","volume":"11","author":"Van Erum","year":"1988","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0116","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1007\/BF01799227","article-title":"A Chinese case of Wolman disease","volume":"12","author":"Wang","year":"1989","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0117","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ymgme.2013.03.007","article-title":"Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications","volume":"109","author":"Yanir","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jped.2021.03.003_bib0118","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1159\/000504646","article-title":"Fatty liver and systemic atherosclerosis in a young, lean patient: rule out lysosomal acid lipase deficiency","volume":"13","author":"Zharkova","year":"2019","journal-title":"Case Rep Gastroenterol"},{"key":"10.1016\/j.jped.2021.03.003_bib0119","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-020-1328-6","article-title":"Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency","volume":"15","author":"Pritchard","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jped.2021.03.003_bib0120","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"},{"key":"10.1016\/j.jped.2021.03.003_bib0121","first-page":"762","article-title":"Clinical picture and biochemical findings in the course of late onset lysosomal acid lipase deficiency in Polish patients","volume":"66","author":"Lipi\u0144ski","year":"2018","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jped.2021.03.003_bib0122","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.2021.03.003_bib0123","first-page":"212","article-title":"Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience","volume":"20","author":"Wierzbicka-Rucinska","year":"2016","journal-title":"Dev Period Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0124","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1080\/03007995.2017.1309371","article-title":"Progression of liver disease in children and adults with lysosomal acid lipase deficiency","volume":"33","author":"Burton","year":"2017","journal-title":"Curr Med Res Opin"},{"key":"10.1016\/j.jped.2021.03.003_bib0125","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2174\/2213988501711010001","article-title":"Targeting Wolman disease and Cholesteryl Ester Storage disease: disease pathogenesis and therapeutic development","volume":"11","author":"Aguisanda","year":"2017","journal-title":"Curr Chem Genom Transl Med"},{"key":"10.1016\/j.jped.2021.03.003_bib0126","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1542\/peds.35.4.627","article-title":"Wolman's Disease: three new patients with a recently described lipidosis","volume":"35","author":"Crocker","year":"1965","journal-title":"Pediatrics"},{"key":"10.1016\/j.jped.2021.03.003_bib0127","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"},{"key":"10.1016\/j.jped.2021.03.003_bib0128","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2014-203656","article-title":"Wolman disease in an infant","volume":"2014","author":"Shenoy","year":"2014","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.jped.2021.03.003_bib0129","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacl.2016.11.008","article-title":"Childhood\/adult-onset lysosomal acid lipase deficiency: a serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases","volume":"11","author":"Poinsot","year":"2017","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jped.2021.03.003_bib0130","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1007\/s10029-015-1376-3","article-title":"The prevalence of umbilical and epigastric hernia repair: a nationwide epidemiologic study","volume":"19","author":"Burcharth","year":"2015","journal-title":"Hernia"},{"key":"10.1016\/j.jped.2021.03.003_bib0131","series-title":"GeneReviews((R))","article-title":"Lysosomal Acid Lipase Deficiency","author":"Hoffman","year":"1993"},{"key":"10.1016\/j.jped.2021.03.003_bib0132","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1258\/0004563001899195","article-title":"Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease","volume":"37","author":"Todoroki","year":"2000","journal-title":"Ann Clin Biochem"},{"key":"10.1016\/j.jped.2021.03.003_bib0133","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency\u2013an under-recognized cause of dyslipidaemia and liver dysfunction","volume":"235","author":"Reiner","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jped.2021.03.003_bib0134","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1161\/hc4401.098490","article-title":"Comparison of various electrophoretic characteristics of LDL particles and their relationship to the risk of ischemic heart disease","volume":"104","author":"St-Pierre","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.jped.2021.03.003_bib0135","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1111\/j.1365-2559.2011.04164.x","article-title":"Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens","volume":"60","author":"Hulkova","year":"2012","journal-title":"Histopathology"},{"key":"10.1016\/j.jped.2021.03.003_bib0136","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.anndiagpath.2017.02.005","article-title":"Cholesteryl ester storage disease: an underdiagnosed cause of cirrhosis in adults","volume":"31","author":"Pant","year":"2017","journal-title":"Ann Diagn Pathol"},{"key":"10.1016\/j.jped.2021.03.003_bib0137","doi-asserted-by":"crossref","first-page":"S448","DOI":"10.1016\/j.mjafi.2014.02.006","article-title":"A rare constellation of imaging findings in Wolman disease","volume":"71","author":"Sen","year":"2015","journal-title":"Med J Armed Forces India"}],"container-title":["Jornal de Pediatria"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755721000565?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755721000565?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T23:22:02Z","timestamp":1758151322000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021755721000565"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":137,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S0021755721000565"],"URL":"https:\/\/doi.org\/10.1016\/j.jped.2021.03.003","relation":{},"ISSN":["0021-7557"],"issn-type":[{"value":"0021-7557","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lysosomal acid lipase deficiency in pediatric patients: a scoping review","name":"articletitle","label":"Article Title"},{"value":"Jornal de Pediatria","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jped.2021.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda.","name":"copyright","label":"Copyright"}]}}