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Journal Abstract Search

144 related items for PubMed ID: 24137950

  • 1. [Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
    Lukina KA, Fevraleva IS, Sysoeva EP, Mamonov BE, Sudarikov AB, Lukina EA.
    Ter Arkh; 2013; 85(7):72-5. PubMed ID: 24137950
    [Abstract] [Full Text] [Related]

  • 2. 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; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 3. [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 Sep; 41(4):41-7. PubMed ID: 18030725
    [Abstract] [Full Text] [Related]

  • 4. [The molecular genetic diagnostic of Gaucher disease type I].
    Lukina KA, Fevrayeva IS, Sysoyeva EP, Sudarikov AB, Lukina EA.
    Klin Lab Diagn; 2014 Jan; (1):53-5. PubMed ID: 25069222
    [Abstract] [Full Text] [Related]

  • 5. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
    Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F.
    J Pediatr Endocrinol Metab; 2012 Jan; 25(9-10):957-62. PubMed ID: 23426826
    [Abstract] [Full Text] [Related]

  • 6. 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 Jan; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 7. Clinical and genetic characteristics of Korean patients with Gaucher disease.
    Jeong SY, Park SJ, Kim HJ.
    Blood Cells Mol Dis; 2011 Jan 15; 46(1):11-4. PubMed ID: 20729108
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].
    Bukina TM, Tsvetkova IV.
    Biomed Khim; 2007 Mar 01; 53(5):593-602. PubMed ID: 18078074
    [Abstract] [Full Text] [Related]

  • 10. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Mar 01; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 11. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.
    Giraldo P, Pocoví M, Pérez-Calvo J, Rubio-Félix D, Giralt M.
    Haematologica; 2000 Aug 01; 85(8):792-9. PubMed ID: 10942924
    [Abstract] [Full Text] [Related]

  • 12. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Aug 01; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 13. 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 Aug 01; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L.
    Hum Mutat; 1998 Aug 01; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 17. Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement.
    Lebel E, Elstein D, Peleg A, Reinus C, Zimran A, Amir G.
    Am J Clin Pathol; 2013 Jul 01; 140(1):91-6. PubMed ID: 23765538
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 8(2):95-102. PubMed ID: 10757640
    [Abstract] [Full Text] [Related]

  • 19. Gaucher disease in Syrian children: common mutations identification, and clinical futures.
    Alasmar D.
    Ann Saudi Med; 2015 Feb 01; 35(2):127-32. PubMed ID: 26336018
    [Abstract] [Full Text] [Related]

  • 20. [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 01; 61(2):59-63. PubMed ID: 22542428
    [Abstract] [Full Text] [Related]

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