Seymour Packman

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

Molecular Physiology, Disease Mechanism, Menkes Disease +9

Agalsidase-Beta Therapy for Advanced Fabry Disease

Maryam Banikazemi, Jan Bultas, Stephen Waldek et al. · Annals of Internal Medicine · 2007 · 564 citations

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P. Germain, Derralynn Hughes, Daniel G. Bichet et al. · New England Journal of Medicine · 2016 · 535 citations · Full text

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Raphael Schiffmann, David G. Warnock, Maryam Banikazemi et al. · Nephrology Dialysis Transplantation · 2009 · 361 citations · Full text

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Dominique P. Germain, Joel Charrow, Robert J. Desnick et al. · Journal of Medical Genetics · 2015 · 355 citations · Full text