These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 11177564)

  • 1. 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; 12(3):279-89. PubMed ID: 11177564
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.
    Du H; Heur M; Witte DP; Ameis D; Grabowski GA
    Hum Gene Ther; 2002 Jul; 13(11):1361-72. PubMed ID: 12162818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 33(1):85-93. PubMed ID: 8617513
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
    Civallero G; De Mari J; Bittar C; Burin M; Giugliani R
    Gene; 2014 Apr; 539(1):154-6. PubMed ID: 24508470
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.
    Sun Y; Xu YH; Du H; Quinn B; Liou B; Stanton L; Inskeep V; Ran H; Jakubowitz P; Grilliot N; Grabowski GA
    Mol Genet Metab; 2014 Jul; 112(3):229-41. PubMed ID: 24837159
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Enzyme therapy for lysosomal acid lipase deficiency in the mouse.
    Du H; Schiavi S; Levine M; Mishra J; Heur M; Grabowski GA
    Hum Mol Genet; 2001 Aug; 10(16):1639-48. PubMed ID: 11487567
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
    Anderson RA; Bryson GM; Parks JS
    Mol Genet Metab; 1999 Nov; 68(3):333-45. PubMed ID: 10562460
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 35(1):99-106. PubMed ID: 24798600
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.
    Du H; Witte DP; Grabowski GA
    J Lipid Res; 1996 May; 37(5):937-49. PubMed ID: 8725147
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.
    Ameis D; Greten H
    Z Gastroenterol; 1996 Jun; 34 Suppl 3():66-7. PubMed ID: 8767467
    [No Abstract]   [Full Text] [Related]  

  • 18. 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; 9(5):716-26.e1. PubMed ID: 26350820
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 25(30):4172-4180. PubMed ID: 31435171
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.
    Boldrini R; Devito R; Biselli R; Filocamo M; Bosman C
    Pathol Res Pract; 2004; 200(3):231-40. PubMed ID: 15200275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.