Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPaseChris D. Vulpe, Jane Gitschier, Barbara Levinson et al.|Nature Genetics|1993Cited by 1.4k
Agalsidase-Beta Therapy for Advanced Fabry DiseaseMaryam Banikazemi, Robert J. Desnick, Jan Bultas et al.|Annals of Internal Medicine|2007Cited by 565
Treatment of Fabry’s Disease with the Pharmacologic Chaperone MigalastatDominique P. Germain, Raphael Schiffmann, Derralynn Hughes et al.|New England Journal of Medicine|2016Cited by 555
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann, Robert J. Desnick, Jan Bultas et al.|Nephrology Dialysis Transplantation|2009Cited by 366
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P. Germain, William R. Wilcox, Joel Charrow et al.|Journal of Medical Genetics|2015Cited by 363