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Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.Orphanet Journal of Rare Diseases|April 19, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CSimona Fecarotta, Alfonso Romano, Roberto Della Casa, et al.Journal of Inherited Metabolic Disease|June 24, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-MannosidosisRobert Šáhó, Renata Formánková, Julie B Eisengart, et al.Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.Pageof 5