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Journal Abstract Search

539 related items for PubMed ID: 12427118

  • 1. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
    Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M.
    Kidney Int; 2002 Dec; 62(6):1933-46. PubMed ID: 12427118
    [Abstract] [Full Text] [Related]

  • 2. Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies.
    Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE, O'Callaghan M.
    J Invest Dermatol; 2004 Apr; 122(4):900-8. PubMed ID: 15102080
    [Abstract] [Full Text] [Related]

  • 3. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.
    Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW.
    Circulation; 2009 May 19; 119(19):2561-7. PubMed ID: 19414635
    [Abstract] [Full Text] [Related]

  • 4. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
    Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, International Collaborative Fabry Disease Study Group.
    N Engl J Med; 2001 Jul 05; 345(1):9-16. PubMed ID: 11439963
    [Abstract] [Full Text] [Related]

  • 5. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
    Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N.
    J Am Soc Nephrol; 2007 May 05; 18(5):1547-57. PubMed ID: 17409312
    [Abstract] [Full Text] [Related]

  • 6. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.
    Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP, International Fabry Disease Study Group.
    Am J Hum Genet; 2004 Jul 05; 75(1):65-74. PubMed ID: 15154115
    [Abstract] [Full Text] [Related]

  • 7. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
    Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.
    PLoS One; 2015 Jul 05; 10(5):e0124987. PubMed ID: 25955246
    [Abstract] [Full Text] [Related]

  • 8. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
    Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ.
    Am J Hum Genet; 2001 Mar 05; 68(3):711-22. PubMed ID: 11179018
    [Abstract] [Full Text] [Related]

  • 9. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
    Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.
    Mol Genet Metab; 2019 May 05; 127(1):86-94. PubMed ID: 30987917
    [Abstract] [Full Text] [Related]

  • 10. α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.
    Bangari DS, Ashe KM, Desnick RJ, Maloney C, Lydon J, Piepenhagen P, Budman E, Leonard JP, Cheng SH, Marshall J, Thurberg BL.
    Am J Pathol; 2015 Mar 05; 185(3):651-65. PubMed ID: 25553976
    [Abstract] [Full Text] [Related]

  • 11. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
    Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP.
    J Pediatr; 2008 Apr 05; 152(4):563-70, 570.e1. PubMed ID: 18346516
    [Abstract] [Full Text] [Related]

  • 12. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.
    Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO.
    Nephrol Dial Transplant; 2006 Feb 05; 21(2):345-54. PubMed ID: 16204287
    [Abstract] [Full Text] [Related]

  • 13. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease.
    Kosch M, Koch HG, Oliveira JP, Soares C, Bianco F, Breuning F, Rasmussen AK, Schaefer RM.
    Kidney Int; 2004 Sep 05; 66(3):1279-82. PubMed ID: 15327428
    [Abstract] [Full Text] [Related]

  • 14. Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients.
    Skrunes R, Svarstad E, Kampevold Larsen K, Leh S, Tøndel C.
    Nephrol Dial Transplant; 2017 May 01; 32(5):807-813. PubMed ID: 27190352
    [Abstract] [Full Text] [Related]

  • 15. Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.
    Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E.
    Clin J Am Soc Nephrol; 2017 Sep 07; 12(9):1470-1479. PubMed ID: 28625968
    [Abstract] [Full Text] [Related]

  • 16. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
    Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB.
    Heart; 2008 Feb 07; 94(2):153-8. PubMed ID: 17483124
    [Abstract] [Full Text] [Related]

  • 17. Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
    Lubanda JC, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Szymanska A.
    Genet Med; 2009 Apr 07; 11(4):256-64. PubMed ID: 19265719
    [Abstract] [Full Text] [Related]

  • 18. Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease.
    Prabakaran T, Birn H, Bibby BM, Regeniter A, Sørensen SS, Feldt-Rasmussen U, Nielsen R, Christensen EI.
    Nephrol Dial Transplant; 2014 Mar 07; 29(3):619-25. PubMed ID: 24215016
    [Abstract] [Full Text] [Related]

  • 19. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
    Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS.
    J Gene Med; 2004 Jan 07; 6(1):85-92. PubMed ID: 14716680
    [Abstract] [Full Text] [Related]

  • 20. Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.
    Ashe KM, Budman E, Bangari DS, Siegel CS, Nietupski JB, Wang B, Desnick RJ, Scheule RK, Leonard JP, Cheng SH, Marshall J.
    Mol Med; 2015 Apr 30; 21(1):389-99. PubMed ID: 25938659
    [Abstract] [Full Text] [Related]

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