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12. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hruska KS, LaMarca ME, Scott CR, Sidransky E. Hum Mutat; 2008 May 24; 29(5):567-83. PubMed ID: 18338393 [Abstract] [Full Text] [Related]
13. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Sobreira E, Pires RF, Cizmarik M, Grabowski GA. Mol Genet Metab; 2007 Jan 24; 90(1):81-6. PubMed ID: 16996765 [Abstract] [Full Text] [Related]
14. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H. Eur J Med Genet; 2008 Jan 24; 51(4):315-21. PubMed ID: 18586596 [Abstract] [Full Text] [Related]
16. Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease. Sinclair GB, Jevon G, Colobong KE, Randall DR, Choy FY, Clarke LA. Mol Genet Metab; 2007 Feb 24; 90(2):148-56. PubMed ID: 17079175 [Abstract] [Full Text] [Related]
17. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ. FEBS J; 2006 Sep 24; 273(17):4082-92. PubMed ID: 16934036 [Abstract] [Full Text] [Related]
18. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP. Nature; 1992 Jun 04; 357(6377):407-10. PubMed ID: 1594045 [Abstract] [Full Text] [Related]
19. Molecular biology of glucocerebrosidase and the treatment of Gaucher disease. Barranger JA, Tomich J, Weiler S, Sakallah S, Sansieri C, Mifflin T, Bahnson A, Wei FS, Wei JF, Vallor M. Cytokines Mol Ther; 1995 Sep 04; 1(3):149-63. PubMed ID: 9384672 [Abstract] [Full Text] [Related]
20. [Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]. Fabrega S, Lehn P. J Soc Biol; 2002 Sep 04; 196(2):175-81. PubMed ID: 12360746 [Abstract] [Full Text] [Related] Page: [Next] [New Search]