Rossella Parini

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 759 citations · Full text

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 416 citations

Mitochondrial Biogenesis, Mitochondrial Function, Natural Sciences +7

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey et al. · Orphanet Journal of Rare Diseases · 2015 · 335 citations · Full text

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Priya S. Kishnani, Deya Corzo, Nancy D. Leslie et al. · Pediatric Research · 2009 · 331 citations · Full text

Pompe Disease, Malaria, Pediatrics +2

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

Mieke Aldenhoven, Robert Wynn, Paul J. Orchard et al. · Blood · 2015 · 309 citations · Full text