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27. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. Du H; Cameron TL; Garger SJ; Pogue GP; Hamm LA; White E; Hanley KM; Grabowski GA J Lipid Res; 2008 Aug; 49(8):1646-57. PubMed ID: 18413899 [TBL] [Abstract][Full Text] [Related]
28. Effects of substrate composition on the esterification and hydrolysis activity of lysosomal acid sterol ester hydrolase. Ekman S; Slotte JP Chem Phys Lipids; 1987 Oct; 45(1):13-25. PubMed ID: 3446408 [TBL] [Abstract][Full Text] [Related]
29. New spectrophotometric assays of acid lipase and their use in the diagnosis of Wolman and cholesteryl ester storage diseases. Nègre A; Salvayre R; Dagan A; Borrone C; Gatt S Anal Biochem; 1985 Mar; 145(2):398-405. PubMed ID: 4014671 [TBL] [Abstract][Full Text] [Related]
30. 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. Pisciotta L; Tozzi G; Travaglini L; Taurisano R; Lucchi T; Indolfi G; Papadia F; Di Rocco M; D'Antiga L; Crock P; Vora K; Nightingale S; Michelakakis H; Garoufi A; Lykopoulou L; Bertolini S; Calandra S Atherosclerosis; 2017 Oct; 265():124-132. PubMed ID: 28881270 [TBL] [Abstract][Full Text] [Related]
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33. Characterization of neutral and acid ester hydrolase in Wolman's disease. Hoeg JM; Demosky SJ; Brewer HB Biochim Biophys Acta; 1982 Apr; 711(1):59-65. PubMed ID: 7066373 [TBL] [Abstract][Full Text] [Related]
34. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Du H; Levine M; Ganesa C; Witte DP; Cole ES; Grabowski GA Am J Hum Genet; 2005 Dec; 77(6):1061-74. PubMed ID: 16380916 [TBL] [Abstract][Full Text] [Related]
35. Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease. Burton BK; Reed SP Am J Hum Genet; 1981 Mar; 33(2):203-8. PubMed ID: 6782865 [TBL] [Abstract][Full Text] [Related]
36. A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. Dairaku T; Iwamoto T; Nishimura M; Endo M; Ohashi T; Eto Y Mol Genet Metab; 2014 Feb; 111(2):193-6. PubMed ID: 24295952 [TBL] [Abstract][Full Text] [Related]
37. Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease. Kelly DR; Hoeg JM; Demosky SJ; Brewer HB Biochem Med; 1985 Feb; 33(1):29-37. PubMed ID: 3994699 [TBL] [Abstract][Full Text] [Related]
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39. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases. Porto AF Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():125-32. PubMed ID: 25345094 [TBL] [Abstract][Full Text] [Related]
40. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Ries S; Büchler C; Schindler G; Aslanidis C; Ameis D; Gasche C; Jung N; Schambach A; Fehringer P; Vanier MT; Belli DC; Greten H; Schmitz G Hum Mutat; 1998; 12(1):44-51. PubMed ID: 9633819 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]