Sfoglia per Autore
A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment
2019-01-01 Ramaroli, Diego Alberto; Cavarzere, Paolo; Cheli, Maurizio; Provenzi, Massimo; Barillari, Marco; Rodella, Giulia; Gaudino, Rossella; Antoniazzi, Franco
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
2020-01-01 Maguolo, A; Rodella, G; Dianin, A; Nurti, R; Monge, I; Rigotti, E; Cantalupo, G; Salviati, L; Tucci, S; Pellegrini, F; Molinaro, G; Lupi, F; Tonin, P; Pasini, A; Campostrini, N; Ion Popa, F; Teofoli, F; Vincenzi, M; Camilot, M; Piacentini, G; Bordugo, A
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
2021-01-01 Bordugo, Andrea; Salvetti, Elisa; Rodella, Giulia; Piazza, Michele; Dianin, Alice; Amoruso, Angela; Piacentini, Giorgio; Pane, Marco; Torriani, Sandra; Vitulo, Nicola; Felis, Giovanna E
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient
2021-01-01 Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
2021-01-01 Maguolo, Alice; Rodella, Giulia; Dianin, Alice; Monge, Irene; Messina, Martina; Rigotti, Erika; Pellegrini, Francesca; Molinaro, Grazia; Lupi, Fiorenzo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Piacentini, Giorgio; Bordugo, Andrea
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
2022-01-01 Maguolo, Alice; Rodella, Giulia; Giorgetti, Alejandro; Nicolodi, Marion; Ribeiro, Rui; Dianin, Alice; Cantalupo, Gaetano; Monge, Irene; Carcereri, Sarah; De Bernardi, Margherita Lucia; Delledonne, Massimo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Piacentini, Giorgio; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Bordugo, Andrea
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment | 1-gen-2019 | Ramaroli, Diego Alberto; Cavarzere, Paolo; Cheli, Maurizio; Provenzi, Massimo; Barillari, Marco; Rodella, Giulia; Gaudino, Rossella; Antoniazzi, Franco | |
| Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience | 1-gen-2020 | Maguolo, A; Rodella, G; Dianin, A; Nurti, R; Monge, I; Rigotti, E; Cantalupo, G; Salviati, L; Tucci, S; Pellegrini, F; Molinaro, G; Lupi, F; Tonin, P; Pasini, A; Campostrini, N; Ion Popa, F; Teofoli, F; Vincenzi, M; Camilot, M; Piacentini, G; Bordugo, A | |
| Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation | 1-gen-2021 | Bordugo, Andrea; Salvetti, Elisa; Rodella, Giulia; Piazza, Michele; Dianin, Alice; Amoruso, Angela; Piacentini, Giorgio; Pane, Marco; Torriani, Sandra; Vitulo, Nicola; Felis, Giovanna E | |
| Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient | 1-gen-2021 | Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano | |
| Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy | 1-gen-2021 | Maguolo, Alice; Rodella, Giulia; Dianin, Alice; Monge, Irene; Messina, Martina; Rigotti, Erika; Pellegrini, Francesca; Molinaro, Grazia; Lupi, Fiorenzo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Piacentini, Giorgio; Bordugo, Andrea | |
| A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism | 1-gen-2022 | Maguolo, Alice; Rodella, Giulia; Giorgetti, Alejandro; Nicolodi, Marion; Ribeiro, Rui; Dianin, Alice; Cantalupo, Gaetano; Monge, Irene; Carcereri, Sarah; De Bernardi, Margherita Lucia; Delledonne, Massimo; Pasini, Andrea; Campostrini, Natascia; Ion Popa, Florina; Piacentini, Giorgio; Teofoli, Francesca; Vincenzi, Monica; Camilot, Marta; Bordugo, Andrea |
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