Bilaketaren emaitzak - Maria Alice Donati

Correction to: Newborn screening in mucopolysaccharidoses nork Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

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Newborn screening in mucopolysaccharidoses nork Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

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Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report nork Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino

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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction nork Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel nork Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, Maria Alice Donati, Clementina Canessa, Simona Fecarotta, Antonia Pascarella, Giuseppe Spadaro, Daniela Concolino, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Agata Fiumara, Roberto Della Casa

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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study nork Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci, Elena Bargagli, Alessandra Boncristiano, Maurizia Rossana Brunetto, Paolo Cameli, Francesco Cappelli, Giancarlo Castaman, Barbara Coco, Maria Alice Donati, Renzo Guerrini, Silvia Linari, Vittoria Murro, Iacopo Olivotto, Paola Parronchi, Francesca Pochiero, Oliviero Rossi, Barbara Scappini, Andrea Sodi, Alessandro Maria Vannucchi, Alessio Coi

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