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Journal Abstract Search

646 related items for PubMed ID: 29982630

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  • 2. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
    Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.
    J Med Genet; 2017 Apr; 54(4):288-296. PubMed ID: 27834756
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  • 6. Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
    Mauer M, Sokolovskiy A, Barth JA, Castelli JP, Williams HN, Benjamin ER, Najafian B.
    J Med Genet; 2017 Nov; 54(11):781-786. PubMed ID: 28756410
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  • 8. Migalastat: A Review in Fabry Disease.
    McCafferty EH, Scott LJ.
    Drugs; 2019 Apr; 79(5):543-554. PubMed ID: 30875019
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  • 9. Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.
    Tsuboi K, Yamamoto H.
    BMC Pharmacol Toxicol; 2017 Jun 07; 18(1):43. PubMed ID: 28592315
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  • 11. Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
    Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.
    Genet Med; 2019 Sep 07; 21(9):1987-1997. PubMed ID: 30723321
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  • 15. Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity.
    Nowak A, Dormond O, Monzambani V, Huynh-Do U, Barbey F.
    Mol Genet Metab; 2022 Sep 07; 137(1-2):173-178. PubMed ID: 36087505
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  • 16. The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjects.
    Mueller MS, Sidharta PN, Voors-Pette C, Darpo B, Xue H, Dingemanse J.
    Orphanet J Rare Dis; 2020 Oct 27; 15(1):303. PubMed ID: 33109218
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  • 17. Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
    Abe A, Arend LJ, Lee L, Lingwood C, Brady RO, Shayman JA.
    Kidney Int; 2000 Feb 27; 57(2):446-54. PubMed ID: 10652021
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  • 18. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
    Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.
    Genet Med; 2017 Apr 27; 19(4):430-438. PubMed ID: 27657681
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