Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy

por Taccetti, Giovanni, Botti, Matteo, Terlizzi, Vito, Cavicchi, Maria Chiara, Neri, Anna Silvia, Galici, Valeria, Mergni, Gianfranco, Centrone, Claudia, Peroni, Diego G., Festini, Filippo
Publicado 2020

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagno...

por Bianchimani, Chiara, Dolce, Daniela, Centrone, Claudia, Campana, Silvia, Ravenni, Novella, Orioli, Tommaso, Camera, Erica, Mergni, Gianfranco, Fevola, Cristina, Bonomi, Paolo, Taccetti, Giovanni, Terlizzi, Vito
Publicado 2022

Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present

por Botti, Matteo, Terlizzi, Vito, Francalanci, Michela, Dolce, Daniela, Cavicchi, Maria Chiara, Neri, Anna Silvia, Galici, Valeria, Mergni, Gianfranco, Zavataro, Lucia, Centrone, Claudia, Festini, Filippo, Taccetti, Giovanni
Publicado 2021

Sweat chloride assay by inductively coupled plasma mass spectrometry: a confirmation test for cystic fibrosis diagnosis

por Marvelli, Antonella, Campi, Beatrice, Mergni, Gianfranco, Di Cicco, Maria Elisa, Turini, Paola, Scardina, Paolo, Zucchi, Riccardo, Pifferi, Massimo, Taccetti, Giovanni, Paolicchi, Aldo, la Marca, Giancarlo, Saba, Alessandro
Publicado 2020