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113 related items for PubMed ID: 10340647

  • 1. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
    Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ.
    Am J Med Genet; 1999 Jun 04; 84(4):334-9. PubMed ID: 10340647
    [Abstract] [Full Text] [Related]

  • 2. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb 04; 8(2):95-102. PubMed ID: 10757640
    [Abstract] [Full Text] [Related]

  • 3. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul 04; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
    Beutler E, Beutler L, West C.
    J Lab Clin Med; 2004 Aug 04; 144(2):65-8. PubMed ID: 15322500
    [Abstract] [Full Text] [Related]

  • 5. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Aug 04; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 6. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Aug 04; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 7. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Aug 04; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 8. 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 Aug 04; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 9. 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 04; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 10. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
    Grace ME, Desnick RJ, Pastores GM.
    J Clin Invest; 1997 May 15; 99(10):2530-7. PubMed ID: 9153297
    [Abstract] [Full Text] [Related]

  • 11. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Hum Mutat; 2004 Jun 15; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
    Choy FY, Humphries ML, Ben-Yoseph Y.
    Hum Mutat; 1998 Jun 15; 11(5):411-2. PubMed ID: 10206680
    [Abstract] [Full Text] [Related]

  • 13. Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
    He GS, Grabowski GA.
    Am J Hum Genet; 1992 Oct 15; 51(4):810-20. PubMed ID: 1415223
    [Abstract] [Full Text] [Related]

  • 14. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
    Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M.
    Blood Cells Mol Dis; 2005 Oct 15; 35(2):268-76. PubMed ID: 16039881
    [Abstract] [Full Text] [Related]

  • 15. Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
    El-Zahabi LM, Makarem J, Habbal Z, Otrock ZK, Taher A, Shamseddine A.
    Mol Genet Metab; 2007 Aug 15; 91(4):402-4. PubMed ID: 17574891
    [Abstract] [Full Text] [Related]

  • 16. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 15; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 17. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
    Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ.
    J Clin Invest; 1999 Mar 15; 103(6):817-23. PubMed ID: 10079102
    [Abstract] [Full Text] [Related]

  • 18. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
    Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG.
    Hum Mutat; 2005 Jan 15; 25(1):100. PubMed ID: 15605411
    [Abstract] [Full Text] [Related]

  • 19. Gaucher disease: a membranous enzymopathy.
    Desnick RJ, Grabowski GA, Dinur T, Fabbro D, Goldblatt J, Gatt S.
    Prog Clin Biol Res; 1982 Jan 15; 97():193-215. PubMed ID: 6818558
    [Abstract] [Full Text] [Related]

  • 20. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
    Grabowski GA, Gatt S, Horowitz M.
    Crit Rev Biochem Mol Biol; 1990 Jan 15; 25(6):385-414. PubMed ID: 2127241
    [Abstract] [Full Text] [Related]

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