Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
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.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Orphanet Journal Of Rare Diseases
Mauhin, Wladimir W; Lidove, Olivier O; Amelin, Damien D; Lamari, Foudil F; Caillaud, Catherine C; Mingozzi, Federico F; Dzangué-Tchoupou, Gaëlle G; Arouche-Delaperche, Louiza L; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Froissart, Roseline R; Lacombe, Didier D; Ziza, Jean Marc JM; Hachulla, Eric E; Benveniste, Olivier O
Publication Date: 2018-07-31
Variant appearance in text: GLA: 729G>C; Leu243Phe
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
Journal Of Medical Genetics
Mauer, Michael M; Sokolovskiy, Alexey A; Barth, Jay A JA; Castelli, Jeffrey P JP; Williams, Hadis N HN; Benjamin, Elfrida R ER; Najafian, Behzad B