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Journal Abstract Search

250 related items for PubMed ID: 18979180

  • 21. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
    Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P.
    Orphanet J Rare Dis; 2017 May 03; 12(1):84. PubMed ID: 28468677
    [Abstract] [Full Text] [Related]

  • 22. 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 May 03; 4(6):334-7. PubMed ID: 9043866
    [Abstract] [Full Text] [Related]

  • 23. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).
    Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D.
    Orphanet J Rare Dis; 2015 May 22; 10():64. PubMed ID: 25994334
    [Abstract] [Full Text] [Related]

  • 24. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
    El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK.
    Mol Genet Metab; 2017 May 22; 120(1-2):47-56. PubMed ID: 28040394
    [Abstract] [Full Text] [Related]

  • 25. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.
    Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ.
    Blood Cells Mol Dis; 2011 Jan 15; 46(1):95-102. PubMed ID: 21067946
    [Abstract] [Full Text] [Related]

  • 26. [Gaucher disease: importance of early diagnosis and therapy].
    Simon G, Erdos M, Maródi L, Tóth J.
    Orv Hetil; 2008 Apr 20; 149(16):743-50. PubMed ID: 18426721
    [Abstract] [Full Text] [Related]

  • 27. Children with type 1 Gaucher disease: Changing profiles in the 21st century.
    Elstein D, Altarescu G, Abrahamov A, Zimran A.
    Blood Cells Mol Dis; 2018 Feb 20; 68():93-96. PubMed ID: 28185830
    [Abstract] [Full Text] [Related]

  • 28. Gaucher disease in Syrian children: common mutations identification, and clinical futures.
    Alasmar D.
    Ann Saudi Med; 2015 Feb 20; 35(2):127-32. PubMed ID: 26336018
    [Abstract] [Full Text] [Related]

  • 29. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.
    Kaplan P, Andersson HC, Kacena KA, Yee JD.
    Arch Pediatr Adolesc Med; 2006 Jun 20; 160(6):603-8. PubMed ID: 16754822
    [Abstract] [Full Text] [Related]

  • 30. [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]

  • 31. Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
    Orenstein M, Barbouth D, Bodamer OA, Weinreb NJ.
    Orphanet J Rare Dis; 2014 Mar 31; 9():45. PubMed ID: 24685312
    [Abstract] [Full Text] [Related]

  • 32. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease.
    Torralba MA, Pérez-Calvo JI.
    J Inherit Metab Dis; 2009 Jun 31; 32(3):453-4; author reply 455-6. PubMed ID: 19322674
    [No Abstract] [Full Text] [Related]

  • 33. Clinical and molecular characteristics of Japanese Gaucher disease.
    Eto Y, Ida H.
    Neurochem Res; 1999 Feb 31; 24(2):207-11. PubMed ID: 9972866
    [Abstract] [Full Text] [Related]

  • 34. 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; 31(5):401-4. PubMed ID: 8064820
    [Abstract] [Full Text] [Related]

  • 35. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
    Beutler E, Beutler L, West C.
    J Lab Clin Med; 2004 Aug 31; 144(2):65-8. PubMed ID: 15322500
    [Abstract] [Full Text] [Related]

  • 36. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Aug 31; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 37. Divergent phenotypes in Gaucher disease implicate the role of modifiers.
    Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.
    J Med Genet; 2005 Jun 31; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

  • 38. Adult Gaucher disease in southern Tunisia: report of three cases.
    Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S.
    Diagn Pathol; 2012 Jan 10; 7():4. PubMed ID: 22233685
    [Abstract] [Full Text] [Related]

  • 39. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
    Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK.
    J Bone Miner Res; 2012 Aug 10; 27(8):1839-48. PubMed ID: 22692814
    [Abstract] [Full Text] [Related]

  • 40. 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 10; 72(3):248-53. PubMed ID: 11243731
    [Abstract] [Full Text] [Related]

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