Fatih Süheyl Ezgü

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

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 238 citations · Full text

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner et al. · Journal of Medical Genetics · 2016 · 162 citations · Full text

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Simon Jones, Sandra Rojas-Caro, Anthony Quinn et al. · Orphanet Journal of Rare Diseases · 2017 · 85 citations · Full text

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake et al. · Orphanet Journal of Rare Diseases · 2023 · 76 citations · Full text