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.


Pubmed for Handhelds

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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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]

    Page: [Previous] [Next] [New Search]
    of 9.