Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience

por Sechi, Annalisa, Macor, Daniela, Valent, Serena, Da Riol, Rosalia Maria, Zanatta, Manuela, Spinelli, Alessandro, Bianchi, Katja, Bertossi, Nadia, Dardis, Andrea, Valent, Francesca, Scarpa, Maurizio
Publicado 2020

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

por Ciana, Giovanni, Dardis, Andrea, Pavan, Eleonora, Da Riol, Rosalia Maria, Biasizzo, Jessica, Ferino, Dania, Zanatta, Manuela, Boni, Antonella, Antonini, Luisa, Crichiutti, Giovanni, Bembi, Bruno
Publicado 2020

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)

por Dardis, Andrea, Pavan, Eleonora, Fabris, Martina, Da Riol, Rosalia Maria, Sechi, Annalisa, Fiumara, Agata, Santoro, Lucia, Ormazabal, Maximiliano, Milanic, Romina, Zampieri, Stefania, Biasizzo, Jessica, Scarpa, Maurizio
Publicado 2021

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

por Salvatore, Marco, Polizzi, Agata, De Stefano, Maria Chiara, Floridia, Giovanna, Baldovino, Simone, Roccatello, Dario, Sciascia, Savino, Menegatti, Elisa, Remuzzi, Giuseppe, Daina, Erica, Iatropoulos, Paraskevas, Bembi, Bruno, Da Riol, Rosalia Maria, Ferlini, Alessandra, Neri, Marcella, Novelli, Giuseppe, Sangiuolo, Federica, Brancati, Francesco, Taruscio, Domenica
Publicado 2020

72nd Congress of the Italian Society of Pediatrics: Florence, Italy. 16-19 November 2016

por Braghero, Marco, Staiano, Annamaria, Biasin, Eleonora, Matarazzo, Patrizia, Einaudi, Silvia, Manicone, Rosaria, Felicetti, Francesco, Brignardello, Enrico, Fagioli, Franca, Bignamini, Elisabetta, Nave, Elena, Callea, F., Concato, C., Fiscarelli, E., Garrone, S., de Gasperis, M.Rossi, Calzi, Patrizia, Marinelli, Grazia, Besana, Roberto, Caffarelli, Carlo, Di Peri, Antonio, Lapetina, Irene, Cincinnati, Patrizia, Da Riol, Rosalia Maria, De Curtis, Mario, Dito, Lucia, Protano, Chiara, Esposito, Susanna, Ferrara, Dante, Galiano, Rossella, Novellino, Pasquale, Kossoff, Eric Heath, Krzysztofiak, Andrzej, Bozzola, Elena, Lancella, Laura, Marchesi, Alessandra, Villani, Alberto, Lago, Paola, Garetti, Elisabetta, Pirelli, Anna, Marchisio, Paola, Santagati, Maria, Stefani, Stefania, Esposito, Susanna, Principi, Nicola, d’Apolito, Valeria, Memo, Luigi, Selicorni, Angelo, Miniello, Vito Leonardo, Diaferio, Lucia, Palmieri, Antonella, Parola, Luciana, Piro, Ettore, Romano, Claudio, Catena, Maria Ausilia, Cardile, Sabrina, Sacco, Oliviero, Girosi, Donata, Olcese, Roberta, Tosca, Mariangela, Rossi, Giovanni Arturo, Salerno, Sergio, Terranova, Maria Chiara, Santamaria, Francesca, Selicorni, Angelo, Mancano, Giorgia, Maitz, Silvia, Stallings, Virginia A., Berlolaso, Chiara, McAnlis, Carolyn, Schall, Joan I., Striano, Pasquale, Tanas, Rita, De Iaco, Giulia, Marsella, Maria, Caggese, Guido, Toma, Paolo, Valentini, Piero, Buonsenso, Danilo, Pata, David, Ceccarelli, Manuela, Verduci, Elvira, Brambilla, Marta, Mariani, Benedetta, Lassandro, Carlotta, Dionigi, Alice Re, Vizzuso, Sara, Banderali, Giuseppe, Panzarino, Gianvito, Di Paolantonio, Claudia, Verrotti, Alberto, Villani, Alberto, Bozzola, Elena, Cursi, Laura, Grandin, Annalisa, Krzysztofiak, Andrzej, Lancella, Laura, Virdis, Raffaele, Carletti, Patrizia, Weber, Giovanna, Caiulo, Silvana, Vigone, Maria Cristina
Publicado 2017