CAPODIFERRO, DONATELLA
CAPODIFERRO, DONATELLA
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
2023-01-01 Forte, Giovanna; Buonadonna, Antonia Lucia; Pantaleo, Antonino; Fasano, Candida; Capodiferro, Donatella; Grossi, Valentina; Sanese, Paola; Cariola, Filomena; De Marco, Katia; Lepore Signorile, Martina; Manghisi, Andrea; Guglielmi, Anna Filomena; Simonetti, Simonetta; Laforgia, Nicola; Disciglio, Vittoria; Simone, Cristiano
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency
2024-01-01 Martino, Stefania; D'Addabbo, Pietro; Turchiano, Antonella; Fc, Radio; Bruselles, Alessandro; Cordeddu, Viviana; Mancini, Cecilia; Stella, Alessandro; Laforgia, Nicola; Capodiferro, Donatella; Simonetti, Simonetta; Bagnulo, Rosanna; Palumbo, Orazio; Marzano, Flaviana; Tabaku, Ornella; Garganese, Antonella; Stasi, Michele; Tartaglia, Marco; Pesole, Graziano; Resta, Nicoletta
Effects of Probiotic Mixture Supplementation and Evaluation of Intestinal Mucosal Tolerance and Gut Microbiome in Newborns with Perinatal Asphyxia Receiving Hypothermic Treatment: A Randomized, Multicentric, Blinded, Controlled TRIAL (VISNAT)
2021-01-01 Baldassarre, Me; Panza, R; Mauro, Ad; Fanelli, M; Mastromarino, P; Scacco, S; Capozza, M; Capodiferro, D; Laforgia, N
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein
2020-01-01 Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review | 1-gen-2023 | Forte, Giovanna; Buonadonna, Antonia Lucia; Pantaleo, Antonino; Fasano, Candida; Capodiferro, Donatella; Grossi, Valentina; Sanese, Paola; Cariola, Filomena; De Marco, Katia; Lepore Signorile, Martina; Manghisi, Andrea; Guglielmi, Anna Filomena; Simonetti, Simonetta; Laforgia, Nicola; Disciglio, Vittoria; Simone, Cristiano | |
| Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency | 1-gen-2024 | Martino, Stefania; D'Addabbo, Pietro; Turchiano, Antonella; Fc, Radio; Bruselles, Alessandro; Cordeddu, Viviana; Mancini, Cecilia; Stella, Alessandro; Laforgia, Nicola; Capodiferro, Donatella; Simonetti, Simonetta; Bagnulo, Rosanna; Palumbo, Orazio; Marzano, Flaviana; Tabaku, Ornella; Garganese, Antonella; Stasi, Michele; Tartaglia, Marco; Pesole, Graziano; Resta, Nicoletta | |
| Effects of Probiotic Mixture Supplementation and Evaluation of Intestinal Mucosal Tolerance and Gut Microbiome in Newborns with Perinatal Asphyxia Receiving Hypothermic Treatment: A Randomized, Multicentric, Blinded, Controlled TRIAL (VISNAT) | 1-gen-2021 | Baldassarre, Me; Panza, R; Mauro, Ad; Fanelli, M; Mastromarino, P; Scacco, S; Capozza, M; Capodiferro, D; Laforgia, N | |
| The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein | 1-gen-2020 | Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N. |