• "Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study
• 15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report
• A 14-step desensitization protocol for sebelipase alfa hypersensitivity in a patient with Wolman disease and secondary hemophagocytic lymphohistiocytosis
• A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
• A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe
• A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant
• A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia
• A Novel Variant in the <em>LIPA</em> Gene Associated with Distinct Phenotype
• A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy
• A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
• A Rare Image of Liver Steatosis - Acid Lipase Lysosomal Deficiency
• A terpene nucleoside from M. tuberculosis induces lysosomal lipid storage in foamy macrophages
• AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement
• An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?
• An Unusual Case of Hemophagocytic Lymphohistiocytosis Associated with <em>Mycobacterium chimaera</em> or Large-Cell Neuroendocrine Carcinoma
• Cholestane-3beta, 5alpha, 6beta-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
• Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
• Clinical and Histologic Liver Improvement in Siblings With Lysosomal Acid Lipase Deficiency After Enzyme Replacement
• Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly
• Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
• Cross-sectional imaging features of unusual adrenal lesions: a radiopathological correlation
• Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease
• CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) - A case report
• Defective Lysosomal Lipolysis Causes Prenatal Lipid Accumulation and Exacerbates Immediately after Birth
• Deficiencia de lipasa ácida lisosomal, una patología infrecuente
• Development of an esterase fluorescent probe based on naphthalimide-benzothiazole conjugation and its applications for qualitative detection of esterase in orlistat-treated biosamples
• Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis
• Diet-refractory NASH in an elderly woman
• Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders
• Disturbance of lipid homeostasis in lysosomal lipase deficiency – pathomechanism, diagnosis and treatment
• Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging
• Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
• Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
• Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study
• Elevated Liver Enzymes in a Young Man with Hyperlipidemia
• Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
• Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review
• Evaluation of biochemical profile and oxidative damage to lipids and proteins in patients with lysosomal acid lipase deficiency
• First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
• Gastrointestinal Manifestations of a Rare Lipid Storage Disorder
• Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease
• High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease
• Hormone-sensitive lipase deficiency affects the expression of SR-BI, LDLr, and ABCA1 receptors/transporters involved in cellular cholesterol uptake and efflux and disturbs fertility in mouse testis
• Impact of (intestinal) LAL deficiency on lipid metabolism and macrophage infiltration
• Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy
• Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group
• JLR-D-23-00401-R1 Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders
• LAL deficiency induced myeloid-derived suppressor cells as targets and biomarkers for lung cancer
• Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
• Large-scale screening of lipase acid deficiency in at risk population
• LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
• Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency
• Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency
• Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency
• Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
• Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans
• Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice
• Lysosomal Acid Lipase Activity in Non-alcoholic Fatty Liver Disease as a Novel Diagnostic and Therapeutic Target: A Systematic Literature Review of Current Evidence and Future Directions
• Lysosomal acid lipase deficiency diagnosed in a patient presenting with acute myeloid leukaemia
• Lysosomal acid lipase deficiency in Brazilian children: a case series
• Lysosomal acid lipase deficiency in pediatric patients: a scoping review
• Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
• Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease
• Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction
• Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
• Lysosomal Acid Lipase Deficiency: Therapeutic Options
• Lysosomal acid lipase promotes endothelial proliferation in cold-activated adipose tissue
• Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase
• Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease
• Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency
• Natural history and management of liver dysfunction in lysosomal storage disorders
• Neutral lipid storage disease with ichthyosis and fatty liver
• Novel association of metastatic Crohn's disease and Wolman disease
• Novel bridge multi-species ELISA for detection of SARS-CoV-2 antibodies
• Off-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases
• Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party
• Pediatric patients with lysosomal acid lipase deficiency
• Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
• Population analysis of ischemic stroke burden and risk factors in the United States in the pre- and post-mechanical thrombectomy eras
• Population analysis of ischemic stroke burden, risk factors in the United States: pre- and post-mechanical thrombectomy
• Prevalence of p.G87V and p.Gln298=Variations in <em>LIPA</em> Gene Within Middle Eastern Population Living Around Los Angeles
• Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
• Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease
• Rare diseases presenting with hemophagocytic lymphohistiocytosis
• Recent insights into lysosomal acid lipase deficiency
• Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease?
• Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency
• Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
• Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
• Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study
• Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease
• Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots
• Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder
• The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children
• The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
• Therapeutic efficacy of rscAAVrh74.miniCMV.<em>LIPA</em> gene therapy in a mouse model of lysosomal acid lipase deficiency
• Twice weekly dosing with Sebelipase alfa (Kanuma) rescues severely ill infants with Wolman disease
• Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature
• Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review
• Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis