Research & Literature

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, et al.

Arteriosclerosis, thrombosis, and vascular biology 2013; (33(12)):2909-14 doi:10.1161/ATVBAHA.113.302426.

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Reiner Ž, Guardamagna O, Nair D, et al.

Atherosclerosis 2014; (235(1)):21-30.

Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease.

Zimetti F, Favari E, Cagliero P, et al.

Atherosclerosis 2015; (242(2)):443-9.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

Burton BK, Balwani M, Feillet F, et al.

The New England journal of medicine 2015; (373(11)):1010-20 doi:10.1056/NEJMoa1501365.

Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency.

Paton DM

Drugs of today (Barcelona, Spain : 1998) 2016; (52(5)):287-93 doi:10.1358/dot.2016.52.5.2488974.

Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease.

Himes RW, Barlow SE, Bove K, et al.

Pediatrics 2016; (138(4)).

Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience.

Wierzbicka-Rucińska A, Jańczyk W, Ługowska A, et al.

Developmental period medicine 2016; (20(3)):212-215.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Jones SA, Rojas-Caro S, Quinn AG, et al.

Orphanet journal of rare diseases 2017; (12(1)):25 doi:10.1186/s13023-017-0587-3.

Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.

Maciejko JJ

American journal of cardiovascular drugs : drugs, devices, and other interventions 2017; (17(3)):217-231 doi:10.1007/s40256-017-0216-5.

Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency.

Ivashkin V, Zharkova M

The New England journal of medicine 2017; (376(9)):e14 doi:10.1056/NEJMicm1610060.

Progression of liver disease in children and adults with lysosomal acid lipase deficiency.

Burton BK, Silliman N, Marulkar S

Current medical research and opinion 2017; (33(7)):1211-1214 doi:10.1080/03007995.2017.1309371.

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.

Bay L, Canero Velasco C, Ciocca M, et al.

Archivos argentinos de pediatria 2017; (115(3)):287-293 doi:10.5546/aap.2017.eng.287.

Wolman Disease: A Mimic of Infant Leukemia.

Gopakumar KG, Thankamony P, Nampoothiri S, et al.

Journal of pediatric hematology/oncology 2017; (39(8)):e489-e492 doi:10.1097/MPH.0000000000000861.

Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD).

A-Kader HH

Expert review of gastroenterology & hepatology 2017; (11(10)):911-924 doi:10.1080/17474124.2017.1343144.

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.

Tommaso AMA, Barra FFC, Hessel G, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2018; (36(1)):4 doi:10.1590/1984-0462/;2018;36;1;00016.

Benefit of Treatment With Sebelipase-Alfa in a 63-Year-Old Patient With Advanced Liver and Atherosclerotic Disease Due to Lysosomal Acid Lipase Deficiency (LAL-D).

Aigner E, Feldman A, Neureiter D, et al.

The American journal of gastroenterology 2018; (113(3)):443-445 doi:10.1038/ajg.2017.486.

Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency.

Wilson DP, Friedman M, Marulkar S, et al.

Journal of clinical lipidology 2018; (12(3)):604-614 doi:10.1016/j.jacl.2018.02.020.

Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.

Bernstein DL, Lobritto S, Iuga A, et al.

Molecular genetics and metabolism 2018; (124(1)):11-19 doi:10.1016/j.ymgme.2018.03.010.

Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.

Santos Silva E, Klaudel-Dreszler M, Bakuła A, et al.

Clinics and research in hepatology and gastroenterology 2018; (42(5)):e77-e82 doi:10.1016/j.clinre.2018.03.012.

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.

Lipiński P, Ługowska A, Zakharova EY, et al.

Journal of pediatric gastroenterology and nutrition 2018; (67(4)):452-457 doi:10.1097/MPG.0000000000002084.

Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.

Akki AS, Chung SM, Rudolph BJ, Ewart MR

Laboratory medicine 2018; (49(4)):377-384 doi:10.1093/labmed/lmy027.

A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency.

Haznedar P, Kuloğlu Z, Kansu A, Eminoğlu FT

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2018; (29(4)):518-519 doi:10.5152/tjg.2018.17492.

The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.

Carter A, Brackley SM, Gao J, Mann JP

Journal of hepatology 2019; (70(1)):142-150 doi:10.1016/j.jhep.2018.09.028.

Lysosomal acid lipase deficiency - early diagnosis is the key.

Strebinger G, Müller E, Feldman A, Aigner E

Hepatic medicine : evidence and research 2019; (11()):79-88 doi:10.2147/HMER.S201630.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Chabchoub I, Boudabbous H, Maaloul I, et al.

Journal of pediatric hematology/oncology 2020; (42(4)):310-312 doi:10.1097/MPH.0000000000001552.

Lysosomal acid lipase deficiency in Brazilian children: a case series.

Benevides GN, Miura IK, Person NC, et al.

Jornal de pediatria 2019; (95(5)):552-558 doi:10.1016/j.jped.2018.05.016.

Lysosomal acid lipase activity and liver fibrosis in the clinical continuum of non-alcoholic fatty liver disease.

Baratta F, Pastori D, Tozzi G, et al.

Liver international : official journal of the International Association for the Study of the Liver 2019; (39(12)):2301-2308 doi:10.1111/liv.14206.

Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization.

Huffaker MF, Liu AY, Enns GM, et al.

JIMD reports 2019; (49(1)):30-36 doi:10.1002/jmd2.12066.

Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group.

Kohli R, Ratziu V, Fiel MI, et al.

Molecular genetics and metabolism 2020; (129(2)):59-66 doi:10.1016/j.ymgme.2019.11.004.

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature.

Rashu EB, Junker AE, Danielsen KV, et al.

World journal of clinical cases 2020; (8(9)):1642-1650 doi:10.12998/wjcc.v8.i9.1642.

Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study.

Malinová V, Balwani M, Sharma R, et al.

Liver international : official journal of the International Association for the Study of the Liver 2020; (40(9)):2203-2214 doi:10.1111/liv.14603.

The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.

Saad M, Syed S

ACG case reports journal 2021; (8(1)):e00516 doi:10.14309/crj.0000000000000516.

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) - A case report.

Foladi N, Aien MT

Radiology case reports 2021; (16(10)):2857-2861 doi:10.1016/j.radcr.2021.06.084.

Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency.

Ezgü F

Expert opinion on drug safety 2022; (21(2)):149-155 doi:10.1080/14740338.2022.1993186.

Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five.

Cossette A, Castilloux J, Bouffard C, et al.

Canadian liver journal 2022; (5(3)):428-434 doi:10.3138/canlivj-2021-0041.

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots.

Hong X, Chen Y, Barr M, Gelb MH

Molecular genetics and metabolism reports 2022; (33()):100935 doi:10.1016/j.ymgmr.2022.100935.

Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.

Balwani M, Balistreri W, D'Antiga L, et al.

Liver international : official journal of the International Association for the Study of the Liver 2023; (43(7)):1537-1547 doi:10.1111/liv.15620.

A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.

Anushiravani A, Jafari Khamirani H, Mohamadkhani A, et al.

Archives of Iranian medicine 2023; (26(2)):86-91 doi:10.34172/aim.2023.14.

Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia.

Sheth S, Toth PP, Baum SJ, Aggarwal M

JACC. Case reports 2023; (24()):102023 doi:10.1016/j.jaccas.2023.102023.

Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.

Zhang JH, Lin AP, Zhang L, et al.

Digestive diseases and sciences 2024; (69(6)):2109-2122 doi:10.1007/s10620-024-08395-9.

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

de Castro MJ, Jones SA, de Las Heras J, et al.

Orphanet journal of rare diseases 2024; (19(1)):244 doi:10.1186/s13023-024-03219-5.

Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.

Lam P, Zygmunt DA, Ashbrook A, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2024; (32(12)):4272-4284 doi:10.1016/j.ymthe.2024.10.022.

Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature.

Nedelcu C, Dijmarescu I, Patrascoiu M, et al.

Cureus 2024; (16(11)):e73299 doi:10.7759/cureus.73299.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

de Las Heras J, Almohalla C, Blasco-Alonso J, et al.

Nutrients 2024; (16(24)) doi:10.3390/nu16244309.

Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy.

Konagai N, Iwanaga N, Minami M, Yoshimatsu J

Journal of clinical lipidology 2025; (19(3)):714-717 doi:10.1016/j.jacl.2025.01.001.

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer.

Laurent M, Harb R, Jenny C, et al.

Communications medicine 2025; (5(1)):110 doi:10.1038/s43856-025-00816-8.

Survival, growth, and safety findings in patients with rapidly progressive, infantile-onset LAL-D: Results from the international LAL-D registry.

Vijay S, Evans J, Lacaille F, et al.

Molecular genetics and metabolism 2025; (146(4)):109290 doi:10.1016/j.ymgme.2025.109290.

Long-term clinical outcomes in lysosomal acid lipase deficiency: Fibrosis regression with sebelipase alfa therapy.

MacDonald M, Park G, Bray S, et al.

Canadian liver journal 2025; (8(3)):488-492 doi:10.3138/canlivj-2025-0022.

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

White FJ, de Las Heras J, Rodríguez-Borjabad C, et al.

Nutrients 2026; (18(2)) doi:10.3390/nu18020233.