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PUBMED FOR HANDHELDS

Journal Abstract Search

109 related items for PubMed ID: 19322674

  • 1.
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  • 2. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 3. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A.
    Genet Test; 2005 Dec; 9(1):26-9. PubMed ID: 15857183
    [Abstract] [Full Text] [Related]

  • 4. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
    Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA.
    Am J Hum Genet; 1993 Jun; 52(6):1094-101. PubMed ID: 8503443
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  • 5. Phenotype variations in Gaucher disease.
    Mistry P, Germain DP.
    Rev Med Interne; 2006 Mar; 27 Suppl 1():S3-10. PubMed ID: 16644399
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  • 7. Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A.
    Prenat Diagn; 2010 Oct; 30(10):924-7. PubMed ID: 20721872
    [Abstract] [Full Text] [Related]

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

  • 10. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.
    Am J Hum Genet; 2000 Jun; 66(6):1821-32. PubMed ID: 10777718
    [Abstract] [Full Text] [Related]

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

  • 12. T cell numbers relate to bone involvement in Gaucher disease.
    Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M.
    Blood Cells Mol Dis; 1999 Apr; 25(2):130-8. PubMed ID: 10389595
    [Abstract] [Full Text] [Related]

  • 13. 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; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

  • 14. Genetic heterogeneity in type I Gaucher disease.
    Devine EA, Beighton P, Petersen EM, Desnick RJ.
    Prog Clin Biol Res; 1982 Sep; 95():495-510. PubMed ID: 6812084
    [Abstract] [Full Text] [Related]

  • 15. Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
    Beutler E, Liebman H, Gelbart T, Stefanski E.
    Acta Haematol; 2000 Sep; 104(2-3):103-5. PubMed ID: 11154983
    [Abstract] [Full Text] [Related]

  • 16. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
    Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC.
    Clin Genet; 1994 Jun; 45(6):298-300. PubMed ID: 7923859
    [Abstract] [Full Text] [Related]

  • 17. Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
    Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC.
    J Med Genet; 1994 May; 31(5):401-4. PubMed ID: 8064820
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  • 18.
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  • 19. Gaucher disease: frequency of the N370S mutation in the Greek population.
    Dimitriou E, Moraitou M, Troungos C, Schulpis K, Michelakakis H.
    Clin Genet; 2010 Aug; 78(2):195-6. PubMed ID: 20662857
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