Disease: Cholesteryl Ester Storage Disease
- <em>Mtrr</em> hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice
- "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 delayed-type cholesteryl ester storage disease derived from LIPA gene mutation
- 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 Rare Image of Liver Steatosis - Acid Lipase Lysosomal Deficiency
- AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement
- Carboxylesterase 1d (Ces1d) does not contribute to cholesteryl ester hydrolysis in the liver
- 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
- Cholesterol esterification and p53-mediated tumor suppression
- Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature
- Cholesteryl ester storage disease: endoscopic findings of an orphan disease
- 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?
- Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease
- Defective Lysosomal Lipolysis Causes Prenatal Lipid Accumulation and Exacerbates Immediately after Birth
- Diet-refractory NASH in an elderly woman
- Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease
- Dihydrosphingolipids are associated with steatosis and increased fibrosis damage in non-alcoholic fatty liver disease
- 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 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
- From Inert Storage to Biological Activity-In Search of Identity for Oxidized Cholesteryl Esters
- Gastrointestinal Manifestations of a Rare Lipid Storage Disorder
- Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory
- 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
- Impact of drug distribution into adipose on tissue function: The cholesteryl ester transfer protein (CETP) inhibitor anacetrapib as a test case
- 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 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
- LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters
- Liver X receptor inhibition potentiates mitotane-induced adrenotoxicity in ACC
- 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
- Lower adiposity does not protect beta-2 syntrophin null mice from hepatic steatosis and inflammation in experimental non-alcoholic steatohepatitis
- 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 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 does not have a propeptide and should not be considered being a proprotein
- 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
- Microsomal triglyceride transfer protein is necessary to maintain lipid homeostasis and retinal function
- Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease
- Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice
- Natural history and management of liver dysfunction in lysosomal storage disorders
- Neutral lipid storage disease with ichthyosis and fatty liver
- 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
- Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
- Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
- Prevalence of p.G87V and p.Gln298=Variations in <em>LIPA</em> Gene Within Middle Eastern Population Living Around Los Angeles
- Prostate cancer cell proliferation is influenced by LDL-cholesterol availability and cholesteryl ester turnover
- Qualitative and Quantitative Changes in Total Lipid Concentration and Lipid Fractions in Liver Tissue of Periparturient German Holstein Dairy Cows of Two Age Groups
- Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
- Rare diseases presenting with hemophagocytic lymphohistiocytosis
- Recent insights into lysosomal acid lipase deficiency
- 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
- Stability of lipids in plasma and serum: Effects of temperature-related storage conditions on the human lipidome
- 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
- Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation
- The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children
- The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology
- The Role of Neutral Sphingomyelinase-2 (NSM2) in the Control of Neutral Lipid Storage in T Cells
- Therapeutic efficacy of rscAAVrh74.miniCMV.<em>LIPA</em> gene therapy in a mouse model of lysosomal acid lipase deficiency
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
- 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