Search Results - Maria Alice Donati

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  1. 1
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    Correction to: Newborn screening in mucopolysaccharidoses by Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

    Published 2019
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  2. 2
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    Newborn screening in mucopolysaccharidoses by Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

    Published 2018
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  3. 3
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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 by Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino

    Published 2018
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  4. 4
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    Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction by Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

    Published 2021
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  5. 5
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    Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel by 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

    Published 2022
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  6. 6
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    Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study by 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

    Published 2022
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