{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:15:38Z","timestamp":1754396138966,"version":"3.28.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,8]]},"DOI":"10.7759\/cureus.73299","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T22:08:48Z","timestamp":1731103728000},"source":"Crossref","is-referenced-by-count":1,"title":["Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature"],"prefix":"10.7759","author":[{"given":"Calin","family":"Nedelcu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Dijmarescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Patrascoiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Oprescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Pacurar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Lysosomal acid lipase deficiency","author":"Wilson DP","year":"2023","unstructured":"Wilson DP, Patni N. Lysosomal acid lipase deficiency. Endotext [Internet]. Feingold KR, Anawalt B, Blackman MR, et al. (ed): MDText.com, Inc., South Dartmouth (MA); 2023."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction","volume":"235","author":"Reiner \u017d","year":"2014","unstructured":"Reiner \u017d, Guardamagna O, Nair D, et al.. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014, 235:21-30. 10.1016\/j.atherosclerosis.2014.04.003","journal-title":"Atherosclerosis"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1385\/1-59259-581-2:95","article-title":"Lysosomal acid lipase. Assay and purification","volume":"109","author":"Merkel M","year":"1999","unstructured":"Merkel M, Tilkorn AC, Greten H, Ameis D. Lysosomal acid lipase. Assay and purification. Methods Mol Biol. 1999, 109:95-107. 10.1385\/1-59259-581-2:95","journal-title":"Methods Mol Biol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaccas.2023.102023","article-title":"Distinguishing lysosomal acid lipase deficiency from familial hypercholesterolemia","volume":"24","author":"Sheth S","year":"2023","unstructured":"Sheth S, Toth PP, Baum SJ, Aggarwal M. Distinguishing lysosomal acid lipase deficiency from familial hypercholesterolemia. JACC Case Rep. 2023, 24:102023. 10.1016\/j.jaccas.2023.102023","journal-title":"JACC Case Rep"},{"key":"ref5","article-title":"Lysosomal acid lipase deficiency","author":"Hoffman PE","year":"2016","unstructured":"Hoffman PE, Barr ML, Giovanni MA, Murray MF. Lysosomal acid lipase deficiency. GeneReviews\u00ae [Internet]. Adam MP, Feldman J, Mirzaa GM, et al. (ed): University of Washington, Seattle, Seattle (WA); 2016."},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0203","article-title":"Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry","volume":"15","author":"Valles-Ayoub Y","year":"2011","unstructured":"Valles-Ayoub Y, Esfandiarifard S, No D, et al.. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers. 2011, 15:395-8. 10.1089\/gtmb.2010.0203","journal-title":"Genet Test Mol Biomarkers"},{"key":"ref7","doi-asserted-by":"publisher","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 DL","year":"2013","unstructured":"Bernstein DL, H\u00fclkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013, 58:1230-43. 10.1016\/j.jhep.2013.02.014","journal-title":"J Hepatol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31828b36ac","article-title":"Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency","volume":"56","author":"Zhang B","year":"2013","unstructured":"Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013, 56:682-5. 10.1097\/MPG.0b013e31828b36ac","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80356-0","article-title":"Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase \u22121 exon 8 splice junction mutation","volume":"31","author":"vom Dahl S","year":"1999","unstructured":"vom Dahl S, Harzer K, Rolfs A, et al.. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase \u22121 exon 8 splice junction mutation. J Hepatol. 1999, 31:741-6. 10.1016\/S0168-8278(99)80356-0","journal-title":"J Hepatol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/BF01605297","article-title":"Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process","volume":"416","author":"Elleder M","year":"1990","unstructured":"Elleder M, Ledvinov\u00e1 J, Cieslar P, Kuhn R. Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process. Virchows Arch A Pathol Anat Histopathol. 1990, 416:357-65. 10.1007\/BF01605297","journal-title":"Virchows Arch A Pathol Anat Histopathol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1177\/000456329703400418","article-title":"Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin","volume":"34","author":"Iverson SA","year":"1997","unstructured":"Iverson SA, Cairns SR, Ward CP, Fensom AH. Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin. Ann Clin Biochem. 1997, 34:433-6. 10.1177\/000456329703400418","journal-title":"Ann Clin Biochem"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(97)80092-X","article-title":"A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin","volume":"27","author":"Gasche C","year":"1997","unstructured":"Gasche C, Aslanidis C, Kain R, et al.. A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. J Hepatol. 1997, 27:744-50. 10.1016\/S0168-8278(97)80092-X","journal-title":"J Hepatol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2147\/DDDT.S149264","article-title":"Lysosomal acid lipase deficiency: therapeutic options","volume":"14","author":"Pastores GM","year":"2020","unstructured":"Pastores GM, Hughes DA. Lysosomal acid lipase deficiency: therapeutic options. Drug Des Devel Ther. 2020, 14:591-601. 10.2147\/DDDT.S149264","journal-title":"Drug Des Devel Ther"},{"key":"ref14","unstructured":"Kanuma. (2015). Accessed. April 20, 2024: https:\/\/www.ema.europa.eu\/en\/search?f%5B0%5D=ema_medicine_bundle%3Aema_medicine&f%5B1%5D=ema_search_categories%3A83&f...."},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1328-6","article-title":"Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency","volume":"15","author":"Pritchard AB","year":"2020","unstructured":"Pritchard AB, Strong A, Ficicioglu C. Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency. Orphanet J Rare Dis. 2020, 15:58. 10.1186\/s13023-020-1328-6","journal-title":"Orphanet J Rare Dis"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12066","article-title":"Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization","volume":"49","author":"Huffaker MF","year":"2019","unstructured":"Huffaker MF, Liu AY, Enns GM, Vijay S, Amor AJ, Adkinson NF Jr. Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization. JIMD Rep. 2019, 49:30-6. 10.1002\/jmd2.12066","journal-title":"JIMD Rep"},{"key":"ref17","doi-asserted-by":"publisher","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 E","year":"2018","unstructured":"Santos Silva E, Klaudel-Dreszler M, Baku\u0142a A, et al.. Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: two infants treated with sebelipase alfa. Clin Res Hepatol Gastroenterol. 2018, 42:77-82. 10.1016\/j.clinre.2018.03.012","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.115946","article-title":"Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans","volume":"148","author":"Helderman RC","year":"2021","unstructured":"Helderman RC, Whitney DG, Duta-Mare M, et al.. Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans. Bone. 2021, 148:115946. 10.1016\/j.bone.2021.115946","journal-title":"Bone"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.11.004","article-title":"Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: consensus recommendations from an international collaborative working group","volume":"129","author":"Kohli R","year":"2020","unstructured":"Kohli R, Ratziu V, Fiel MI, Waldmann E, Wilson DP, Balwani M. Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: consensus recommendations from an international collaborative working group. Mol Genet Metab. 2020, 129:59-66. 10.1016\/j.ymgme.2019.11.004","journal-title":"Mol Genet Metab"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/311267-lysosomal-acid-lipase-deficiency-a-report-of-two-cases-and-a-review-of-the-literature","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T22:08:51Z","timestamp":1731103731000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/311267-lysosomal-acid-lipase-deficiency-a-report-of-two-cases-and-a-review-of-the-literature"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,8]]},"references-count":19,"URL":"https:\/\/doi.org\/10.7759\/cureus.73299","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11,8]]}}}