Disease: Lipidosis with triglycerid storage disease
- A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
- A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
- A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
- A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin
- A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
- Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease
- Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)
- Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease
- Analysis of the lipids of normal and Gaucher bone marrow
- Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients
- Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
- Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease
- Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy
- Cholesterol ester storage disease
- Cholesterol ester storage disease: a reported case
- Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children
- Cholesteryl ester storage disease: case report during childhood
- Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin
- Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease
- Clinical and genetic characterization of Chanarin-Dorfman syndrome
- Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease
- Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease
- Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease
- Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases
- Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients
- Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience
- Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges
- Disturbance of lipid homeostasis in lysosomal lipase deficiency – pathomechanism, diagnosis and treatment
- Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?
- Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
- Enzyme therapy for lysosomal acid lipase deficiency in the mouse
- Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study
- Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
- Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype
- Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease
- Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease
- Genetic lipid storage disease with lysosomal acid lipase deficiency in rats
- Glucosylceramide modulates endolysosomal pH in Gaucher disease
- Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance
- Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
- Identification and metabolic profiling of patients with lysosomal acid lipase deficiency
- Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy
- Increased hepatic secretion of very-low-density lipoprotein apolipoprotein B-100 in cholesteryl ester storage disease
- Infant case of lysosomal acid lipase deficiency: Wolman's disease
- Intragenic deletion as a novel type of mutation in Wolman disease
- Large-scale screening of lipase acid deficiency in at risk population
- LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters
- Liver transplantation for cholesteryl ester storage disease
- Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
- Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease
- 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
- Lovastatin therapy for cholesterol ester storage disease in two sisters
- Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies
- Lysosomal acid lipase deficiency (LAL-D) : Diagnostic and therapeutic options in an underdiagnosed disease
- Lysosomal acid lipase deficiency in Brazilian children: a case series
- Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy
- Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen
- Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation
- Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
- Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease
- Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia
- Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice
- Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases
- Lysosomal acid lipase deficiency: Expanding differential diagnosis
- Lysosomal Acid Lipase Deficiency: Therapeutic Options
- Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease
- Lysosomal Acid Lipase in Lipid Metabolism and Beyond
- Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span
- Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency
- Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase
- Mexican consensus on lysosomal acid lipase deficiency diagnosis
- Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease
- Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease
- Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics
- NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
- Pathohistologic diagnosis of cholesterol ester storage disease
- Pediatric patients with lysosomal acid lipase deficiency
- Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase
- Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
- Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease?
- Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease
- Rickets with Dorfman-Chanarin syndrome
- 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
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
- Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia
- Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage
- The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding
- The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
- The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
- The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy
- Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein
- Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
- Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management
- Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation
- Wolman disease
- Wolman disease and cholesteryl ester storage disease
- Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
- Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice
- Wolman's disease: ultrasonographic and computed tomographic findings