Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report.

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.

Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.

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

Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management.

The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience.

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

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

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

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

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

Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders.

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

Pediatric patients with lysosomal acid lipase deficiency.

Recent insights into lysosomal acid lipase deficiency.

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.

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

Natural history and management of liver dysfunction in lysosomal storage disorders.

Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.

Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency.

Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging.

Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.

Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency.

[A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation].

Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease.

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review.

Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

Large-scale screening of lipase acid deficiency in at risk population.

Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans.

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

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.

Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease.

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

LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

Cholesteryl ester storage disease: endoscopic findings of an orphan disease.

Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein.

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report.

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Immunometabolic function of cholesterol in cardiovascular disease and beyond.

Lysosomal Acid Lipase in Lipid Metabolism and Beyond.

Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation.

Combined Hepatocellular-Cholangiocarcinoma in a Patient With Cirrhosis Due to Cholesteryl Ester Storage Disease.

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

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

The silent course of liver steatosis and fibrosis in an adult patient with Cholesteryl Ester Storage Disease.

Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.

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

Genetically modified mouse models to study hepatic neutral lipid mobilization.

Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms.

Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan.

Liver histology in cholesteryl ester storage disease.

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

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

Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.

Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy.

Mexican consensus on lysosomal acid lipase deficiency diagnosis.

Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse.

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.

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

Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis.

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.

The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.

Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Quantitation of the rates of hepatic and intestinal cholesterol synthesis in lysosomal acid lipase-deficient mice before and during treatment with ezetimibe.

Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults.

Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.

Morphology of Wolman cholesteryl ester storage disease.

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

Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.

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

Low Serum Lysosomal Acid Lipase Activity Correlates with Advanced Liver Disease.

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.

[Lysosomal storage diseases: A brief summary].

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

PRD125, a potent and selective inhibitor of sterol O-acyltransferase 2 markedly reduces hepatic cholesteryl ester accumulation and improves liver function in lysosomal acid lipase-deficient mice.

Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.