ABC | Volume 113, Nº1, Julho 2019

Artigo Original Chaves-Markman et al Nova mutação na doença de Fabry Arq Bras Cardiol. 2019; 113(1):77-84 Este é um artigo de acesso aberto distribuído sob os termos da licença de atribuição pelo Creative Commons 36. Lenders M, Duning T, Schelleckes M, Schmitz B, Stander S, Rolfs A, et al. Multifocal white matter lesions associated with the D313Y mutation of the α -Galactosidase A gene. PLoS One. 2013;8(2):e55565. 37. Niemann M, Rolfs A, Giese A, Mascher H, Breunig F, Ertl G, et al. Lyso-Gb3 indicates that the Alpha-Galactosidase A Mutation D313Y is not clinically relevant for Fabry disease. JIMD Rep. 2013;7:99-102. 38. Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis. 2015 Sep 29;10:125. 39. Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36. 40. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, et al. Treatment of Fabry’s disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016;375(6):545-55. 84