• "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 Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant
• 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 systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases
• A terpene nucleoside from M. tuberculosis induces lysosomal lipid storage in foamy macrophages
• AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review
• 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
• ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism
• Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
• Autophagy sustains mitochondrial respiration and determines resistance to BRAF^V600E inhibition in thyroid carcinoma cells
• Characterization of lysosomal acid lipase in Ly6G(+) and CD11c(+) myeloid-derived suppressor cells
• Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly
• Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature
• Correction to: 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
• 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
• 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
• 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
• Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders
• Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
• Disturbance of lipid homeostasis in lysosomal lipase deficiency - pathomechanism, diagnosis and treatment
• Disturbance of lipid homeostasis in lysosomal lipase deficiency – pathomechanism, diagnosis and treatment
• Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging
• Dysregulation of Placental Lipid Hydrolysis by High-Fat/High-Cholesterol Feeding and Gestational Diabetes Mellitus in Mice
• Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
• Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
• Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study
• 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
• Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico
• Gastrointestinal Manifestations of a Rare Lipid Storage Disorder
• Hepatic lysosomal acid lipase drives the autophagy-lysosomal response and alleviates cholesterol metabolic disorder in ApoE deficient mice
• 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
• 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 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 Controls T- and B-Regulatory Cell Homeostasis in the Lymph Nodes of Mice with Human Cancer Xenotransplants
• Lysosomal acid lipase deficiency diagnosed in a patient presenting with acute myeloid leukaemia
• 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 promotes endothelial proliferation in cold-activated adipose tissue
• Lysosomal lipoprotein processing in endothelial cells stimulates adipose tissue thermogenic adaptation
• Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase
• Molecular and Structural Characterizations of Lipases from <em>Chlorella</em> by Functional Genomics
• Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease
• 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
• 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
• Protein profiles in the transfected oviductal secreting cells of laying hen (Gallus gallus domesticus)
• 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
• Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase
• 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 in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study
• Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease
• Serum protein profile analysis in lysosomal storage disorders patients
• 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 Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
• Therapeutic efficacy of rscAAVrh74.miniCMV.<em>LIPA</em> gene therapy in a mouse model of lysosomal acid lipase deficiency
• Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA 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