Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

20011,537 citationsJournal Articlebronze Open Access

Authors

Christine M. Eng · Icahn School of Medicine at Mount Sinai

Nathalie Guffon · Hôpital Edouard Herriot

William R. Wilcox · Cedars-Sinai Medical Center

Dominique P. Germain · Hôpital Européen

Philip Lee · Royal London Hospital

Steve Waldek · Salford Royal Hospital

Louis R. Caplan

Abstract

Recombinant alpha-galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease.

Topics & Keywords

Lysosomal Storage Disorders Research Biomedical Research and Pathophysiology Trypanosoma species research and implications

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: New England Journal of Medicine

Volume 345, Issue 1, pp. 9-16

DOI: 10.1056/nejm200107053450102

Field-Weighted Citation Impact: 38.19