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Journal Abstract Search

165 related items for PubMed ID: 11441129

  • 1. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
    Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D.
    J Lipid Res; 2001 Jul; 42(7):1033-40. PubMed ID: 11441129
    [Abstract] [Full Text] [Related]

  • 2. [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].
    Tanaka A.
    Nihon Rinsho; 1995 Dec; 53(12):3004-8. PubMed ID: 8577049
    [Abstract] [Full Text] [Related]

  • 3. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
    Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G.
    J Lipid Res; 1996 Aug; 37(8):1761-5. PubMed ID: 8864960
    [Abstract] [Full Text] [Related]

  • 4. Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease.
    Nakagawa H, Matsubara S, Kuriyama M, Yoshidome H, Fujiyama J, Yoshida H, Osame M.
    J Lipid Res; 1995 Oct; 36(10):2212-8. PubMed ID: 8576647
    [Abstract] [Full Text] [Related]

  • 5. Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
    Rajamohan F, Reyes AR, Ruangsiriluk W, Hoth LR, Han S, Caspers N, Tu M, Ward J, Kurumbail RG.
    Protein Expr Purif; 2015 Jun; 110():22-9. PubMed ID: 25620107
    [Abstract] [Full Text] [Related]

  • 6. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
    Du H, Duanmu M, Witte D, Grabowski GA.
    Hum Mol Genet; 1998 Sep; 7(9):1347-54. PubMed ID: 9700186
    [Abstract] [Full Text] [Related]

  • 7. Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
    Du H, Heur M, Duanmu M, Grabowski GA, Hui DY, Witte DP, Mishra J.
    J Lipid Res; 2001 Apr; 42(4):489-500. PubMed ID: 11290820
    [Abstract] [Full Text] [Related]

  • 8. Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance.
    Thelwall PE, Smith FE, Leavitt MC, Canty D, Hu W, Hollingsworth KG, Thoma C, Trenell MI, Taylor R, Rutkowski JV, Blamire AM, Quinn AG.
    J Hepatol; 2013 Sep; 59(3):543-9. PubMed ID: 23624251
    [Abstract] [Full Text] [Related]

  • 9. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
    Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE.
    J Lipid Res; 1998 Jul; 39(7):1382-8. PubMed ID: 9684740
    [Abstract] [Full Text] [Related]

  • 10. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
    Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.
    Genomics; 1996 Apr 01; 33(1):85-93. PubMed ID: 8617513
    [Abstract] [Full Text] [Related]

  • 11. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
    Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D.
    J Lipid Res; 1999 Feb 01; 40(2):221-8. PubMed ID: 9925650
    [Abstract] [Full Text] [Related]

  • 12. Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.
    Tylki-Szymańska A, Jurecka A.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2014 Feb 01; 35(1):99-106. PubMed ID: 24798600
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.
    Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ.
    Hum Gene Ther; 2001 Feb 10; 12(3):279-89. PubMed ID: 11177564
    [Abstract] [Full Text] [Related]

  • 14. [Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].
    Tanaka A.
    Ryoikibetsu Shokogun Shirizu; 1998 Feb 10; (19 Pt 2):427-30. PubMed ID: 9645100
    [No Abstract] [Full Text] [Related]

  • 15. 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 10; 77(6):1061-74. PubMed ID: 16380916
    [Abstract] [Full Text] [Related]

  • 16. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.
    Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, Ishida BY, Schaefer EJ, Asztalos BF, Kane JP.
    J Clin Lipidol; 2015 Dec 10; 9(5):716-26.e1. PubMed ID: 26350820
    [Abstract] [Full Text] [Related]

  • 17. Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease?
    Baratta F, Pastori D, Ferro D, Carluccio G, Tozzi G, Angelico F, Violi F, Del Ben M.
    World J Gastroenterol; 2019 Aug 14; 25(30):4172-4180. PubMed ID: 31435171
    [Abstract] [Full Text] [Related]

  • 18. Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen.
    Kuriyama M, Yoshida H, Suzuki M, Fujiyama J, Igata A.
    J Lipid Res; 1990 Sep 14; 31(9):1605-12. PubMed ID: 2246613
    [Abstract] [Full Text] [Related]

  • 19. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
    Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S.
    Mol Genet Metab; 2012 Mar 14; 105(3):450-6. PubMed ID: 22227072
    [Abstract] [Full Text] [Related]

  • 20. Intercellular transport of lysosomal acid lipase mediates lipoprotein cholesteryl ester metabolism in a human vascular endothelial cell-fibroblast coculture system.
    Sando GN, Ma GP, Lindsley KA, Wei YP.
    Cell Regul; 1990 Aug 14; 1(9):661-74. PubMed ID: 2150334
    [Abstract] [Full Text] [Related]

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