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Journal Abstract Search

210 related items for PubMed ID: 25994334

  • 1. 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]

  • 2. Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.
    Serai SD, Naidu AP, Andrew Burrow T, Prada CE, Xanthakos S, Towbin AJ.
    Mol Genet Metab; 2018 Mar 22; 123(3):357-363. PubMed ID: 29361370
    [Abstract] [Full Text] [Related]

  • 3. A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.
    Ganz ML, Stern S, Ward A, Nalysnyk L, Selzer M, Hamed A, Weinreb N.
    Orphanet J Rare Dis; 2017 Feb 20; 12(1):38. PubMed ID: 28219443
    [Abstract] [Full Text] [Related]

  • 4. A validated disease severity scoring system for adults with type 1 Gaucher disease.
    Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A.
    Genet Med; 2010 Jan 20; 12(1):44-51. PubMed ID: 20027115
    [Abstract] [Full Text] [Related]

  • 5. 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 20; 85(8):792-9. PubMed ID: 10942924
    [Abstract] [Full Text] [Related]

  • 6. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
    Grigorescu-Sido P, Drugan C, Alkhzouz C, Zimmermann A, Coldea C, Denes C, Grigorescu MD, Cret V, Bucerzan S.
    Eur J Intern Med; 2010 Apr 20; 21(2):104-13. PubMed ID: 20206881
    [Abstract] [Full Text] [Related]

  • 7. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
    Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.
    Am J Hematol; 2012 Apr 20; 87(4):377-83. PubMed ID: 22388998
    [Abstract] [Full Text] [Related]

  • 8. Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.
    Laudemann K, Moos L, Mengel KE, Lollert A, Reinke J, Brixius-Huth M, Wagner D, Düber C, Staatz G.
    Rofo; 2015 Dec 20; 187(12):1093-8. PubMed ID: 26200566
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
    Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA.
    Am J Hum Genet; 1993 Jun 20; 52(6):1094-101. PubMed ID: 8503443
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Gaucher disease in Spanish patients: analysis of eight mutations.
    Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A.
    Hum Mutat; 1995 Mar 01; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec 03; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 15. 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 03; 27(8):1839-48. PubMed ID: 22692814
    [Abstract] [Full Text] [Related]

  • 16. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
    Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK.
    J Inherit Metab Dis; 2011 Jun 03; 34(3):643-50. PubMed ID: 21445609
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.
    Laudemann K, Moos L, Mengel E, Lollert A, Hoffmann C, Brixius-Huth M, Wagner D, Düber C, Staatz G.
    Blood Cells Mol Dis; 2016 Mar 15; 57():35-41. PubMed ID: 26852653
    [Abstract] [Full Text] [Related]

  • 19. The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations.
    Piran S, Roberts A, Patterson MA, Amato D.
    Blood Cells Mol Dis; 2009 Mar 15; 43(3):289-93. PubMed ID: 19793665
    [Abstract] [Full Text] [Related]

  • 20. Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
    Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, Irún P, Rodríguez-Rey JC, Pocoví M, España F, Giraldo P.
    Hum Mutat; 2013 Oct 15; 34(10):1396-403. PubMed ID: 23913449
    [Abstract] [Full Text] [Related]

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