A first therapy for Shwachman-Diamond Syndrome: Verona Cystic Fibrosis Center at the forefront of scientific research

Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series.

Bezzerri V, Pegoraro A, Hristodor AM, Crane GM, Meneghelli I, Brignole C, Boni C, Baldisseri E, Vella A, Menichetti G, Valli R, Porta G, D’Amico G, Tecchio C, Parisi A, Lippi G, Mercuri A, Cesaro S, Corey S, Cipolli M. Nat Commun 16, 8189 (2025)