Roberto Giugliani

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Joseph Muenzer, J. E. Wraith, Michael Beck et al. · Genetics in Medicine · 2006 · 585 citations · Full text

Life Sciences, Biochemistry, Enzymology +10

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 · 556 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

Paul Harmatz, Roberto Giugliani, Ida Vanessa Döederlein Schwartz et al. · The Journal of Pediatrics · 2006 · 364 citations

Life Sciences, Biochemistry, Pharmacotherapy +7

Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey

Atul Mehta, Joe T.R. Clarke, Roberto Giugliani et al. · Journal of Medical Genetics · 2009 · 306 citations

Life Sciences, Clinical Sciences, Pathology +12