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

185 related items for PubMed ID: 16644399

  • 21. Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
    Hassan S, Lopez G, Stubblefield BK, Tayebi N, Sidransky E.
    Mol Genet Metab; 2018 Sep; 125(1-2):1-3. PubMed ID: 29980418
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
    Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO.
    Tsitol Genet; 2007 Jun; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

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

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. [Molecular diagnosis of Gaucher disease in Tunisia].
    Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi MF.
    Pathol Biol (Paris); 2013 Apr; 61(2):59-63. PubMed ID: 22542428
    [Abstract] [Full Text] [Related]

  • 28. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
    Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A.
    Arch Intern Med; 2000 Oct 09; 160(18):2835-43. PubMed ID: 11025794
    [Abstract] [Full Text] [Related]

  • 29. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
    Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R.
    Epilepsia; 2004 Sep 09; 45(9):1154-7. PubMed ID: 15329082
    [Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 32. Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
    Tylki-Szymańska A, Millat G, Maire I, Czartoryska B.
    Eur J Hum Genet; 1996 Sep 09; 4(6):334-7. PubMed ID: 9043866
    [Abstract] [Full Text] [Related]

  • 33. [Clinical phenotype and genotype of Gaucher disease in 14 children].
    Sun XY, Xue Y, Wang YP, Huang J, Lin RF, Kang MY, Fang YJ.
    Zhonghua Er Ke Za Zhi; 2022 Jun 02; 60(6):527-532. PubMed ID: 35658357
    [Abstract] [Full Text] [Related]

  • 34. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
    Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K.
    Mol Genet Metab; 2001 Mar 02; 72(3):248-53. PubMed ID: 11243731
    [Abstract] [Full Text] [Related]

  • 35. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 36. Enzyme, substrate, and myeloma in Gaucher disease.
    Hughes DA.
    Am J Hematol; 2009 Apr 15; 84(4):199-201. PubMed ID: 19291728
    [No Abstract] [Full Text] [Related]

  • 37. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F.
    BMC Med Genet; 2018 Oct 01; 19(1):178. PubMed ID: 30285649
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.
    Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y.
    Hum Genet; 1999 Oct 01; 105(1-2):120-6. PubMed ID: 10480365
    [Abstract] [Full Text] [Related]

  • 40. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
    Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL.
    Prog Clin Biol Res; 1982 Oct 01; 95():33-65. PubMed ID: 6289358
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 10.