Results 21 to 30 of about 6,168 (166)
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
Molecular Genetics and Metabolism Reports, 2022 Lysosomal acid lipase deficiency (LAL-D) (OMIM: 278000) is a lysosomal storage disorder with two distinct disease phenotypes such as Wolman disease and cholesteryl ester storage disorder (CESD), characterized by an accumulation of endocytosed cholesterol
Mari Ohira +3 more
doaj +1 more source
Morphology of Wolman cholesteryl ester storage disease [PDF]
Blood, 2017 ![Figure][1] A 21-year-old man had presented at 3 months of age with failure to thrive, malabsorption, diarrhea, weight loss, ascites, and hepatosplenomegaly. A diagnosis of Wolman disease (lysosomal acid esterase deficiency) was made following demonstration of excess cholesterol ester in ...
openaire +2 more sources
Journal of Lipid Research, 2001 Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal−/− mice appear normal at birth,
Hong Du +6 more
doaj +1 more source
Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy.
Journal of Lipid Research, 1992 To better characterize the in vivo effects of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibition on human lipid metabolism, an adolescent male with cholesteryl ester storage disease (CESD) was treated chronically with lovastatin ...
R Levy +4 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2022 Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (CESD),
Patricia Lam +5 more
doaj +1 more source
Journal of Lipid Research, 1982 We have studied the recognition and uptake of acid lipase by human fibroblasts in order to determine requirements for localization and function of the enzyme in lysosomes.
G N Sando, V L Henke
doaj +1 more source
Journal of Lipid Research, 2008 Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD).
Hong Du +7 more
doaj +1 more source
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
Journal of Lipid Research, 1996 Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL).
S Ries +5 more
doaj +1 more source
Journal of Lipid Research, 1998 Deficiency of lysosomal acid lipase (LAL) leads to either Wolman disease(WD) or the more benign cholesteryl ester storage disease (CESD). To identifythe molecular basis of the different phenotypes we have characterised the LALgene mutations in three new ...
Franco Pagani +7 more
doaj +1 more source
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
The Turkish Journal of Pediatrics, 2020 Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA ...
Berrak Bilginer Gürbüz +3 more
doaj +1 more source