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PUBMED FOR HANDHELDS

Journal Abstract Search


166 related items for PubMed ID: 2698300

  • 21. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Jun 15; 39(4):466-71. PubMed ID: 1877626
    [Abstract] [Full Text] [Related]

  • 22. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
    Sidransky E, Bottler A, Stubblefield B, Ginns EI.
    Hum Mutat; 1994 Jun 15; 3(1):25-8. PubMed ID: 8118463
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  • 23. [Molecular diagnosis and gene therapy for Gaucher disease].
    Ohashi T.
    Nihon Rinsho; 1993 Sep 15; 51(9):2300-7. PubMed ID: 8411706
    [Abstract] [Full Text] [Related]

  • 24. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A, Horowitz M.
    Am J Med Genet; 1994 Mar 01; 50(1):74-8. PubMed ID: 8160756
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  • 26. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G, Choy FY, Humphries L.
    Blood Cells Mol Dis; 1998 Dec 01; 24(4):420-7. PubMed ID: 9851895
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  • 27. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E.
    Eur J Hum Genet; 1999 Dec 01; 7(4):505-9. PubMed ID: 10352942
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  • 28. 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 Dec 01; 51(4):315-21. PubMed ID: 18586596
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  • 30. Parkinsonism among Gaucher disease carriers.
    Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.
    J Med Genet; 2004 Dec 01; 41(12):937-40. PubMed ID: 15591280
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  • 33. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N.
    Hum Mutat; 1998 Dec 01; 12(4):240-4. PubMed ID: 9744474
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  • 35. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
    van Weely S, van den Berg M, Barranger JA, Sa Miranda MC, Tager JM, Aerts JM.
    J Clin Invest; 1993 Mar 01; 91(3):1167-75. PubMed ID: 8450045
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  • 36. 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 Mar 01; 35(2):253-8. PubMed ID: 15967693
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  • 37. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
    Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E.
    Am J Med Genet; 1996 Dec 18; 66(3):316-9. PubMed ID: 8985494
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  • 38. Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
    Wafaei JR, Choy FY.
    Blood Cells Mol Dis; 2005 Dec 18; 35(2):277-85. PubMed ID: 16102985
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  • 39. [Gene therapy of Gaucher's and Fabry's diseases: current status and prospects].
    Fabrega S, Lehn P.
    J Soc Biol; 2002 Dec 18; 196(2):175-81. PubMed ID: 12360746
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  • 40. Identification of six new Gaucher disease mutations.
    Beutler E, Gelbart T, West C.
    Genomics; 1993 Jan 18; 15(1):203-5. PubMed ID: 8432537
    [Abstract] [Full Text] [Related]


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