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, David G. Warnock et al.|Nephrology Dialysis Transplantation|2009Cited by 366
<i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander diseaseMorgan J. Prust, Adeline Vanderver, Jiaxian Wang et al.|Neurology|2011Cited by 256
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trialRaphael Schiffmann, Derralynn Hughes, Özlem Göker-Alpan et al.|Journal of Inherited Metabolic Disease|2019Cited by 137
The definition of neuronopathic Gaucher diseaseRaphael Schiffmann, Ari Zimran, Ellen Sidransky et al.|Journal of Inherited Metabolic Disease|2020Cited by 102