Pubblicazioni

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

2022 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V.

A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres

2021 - JOURNAL OF CYSTIC FIBROSIS

Terlizzi, V.; Claut, L.; Tosco, A.; Colombo, C.; Raia, V.; Fabrizzi, B.; Lucarelli, M.; Angeloni, A.; Cimino, G.; Castaldo, A.; Marsiglio, L.; Timpano, S.; Cirilli, N.; Moroni, L.; Festini, F.; Piccinini, P.; Zavataro, L.; Bonomi, P.; Taccetti, G.; Southern, K. W.; Padoan, R.

Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis

2021 - PEDIATRIC PULMONOLOGY

Terlizzi, V.; Claut, L.; Colombo, C.; Tosco, A.; Castaldo, A.; Fabrizzi, B.; Lucarelli, M.; Cimino, G.; Carducci, C.; Dolce, D.; Biffi, A.; Bonomi, P.; Timpano, S.; Padoan, R.

Newborn screening for homocystinurias: Recent recommendations versus current practice

2019 - JOURNAL OF INHERITED METABOLIC DISEASE

Keller, R.; Chrastina, P.; Pavlikova, M.; Gouveia, S.; Ribes, A.; Kolker, S.; Blom, H. J.; Baumgartner, M. R.; Bartl, J.; Dionisi-Vici, C.; Gleich, F.; Morris, A. A.; Kozich, V.; Huemer, M.; Baric, I.; Ben-Omran, T.; Blasco-Alonso, J.; Bueno Delgado, M. A.; Carducci, C.; Cassanello, M.; Cerone, R.; Couce, M. L.; Crushell, E.; Delgado Pecellin, C.; Dulin, E.; Espada, M.; Ferino, G.; Fingerhut, R.; Garcia Jimenez, I.; Gonzalez Gallego, I.; Gonzalez-Irazabal, Y.; Gramer, G.; Juan Fita, M. J.; Karg, E.; Klein, J.; Konstantopoulou, V.; la Marca, G.; Leao Teles, E.; Leuzzi, V.; Lilliu, F.; Lopez, R. M.; Lund, A. M.; Mayne, P.; Meavilla, S.; Moat, S. J.; Okun, J. G.; Pasquini, E.; Pedron-Giner, C. C.; Racz, G. Z.; Ruiz Gomez, M. A.; Vilarinho, L.; Yahyaoui, R.; Zerjav Tansek, M.; Zetterstrom, R. H.; Zeyda, M.

Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot

2017 - CLINICA CHIMICA ACTA

Santagata, Silvia; Di Carlo, Emanuele; Carducci, Carla; Leuzzi, Vincenzo; Angeloni, Antonio; Carducci, Claudia

Clinical expression of patients with the D1152H CFTR mutation

2015 - JOURNAL OF CYSTIC FIBROSIS

V., Terlizzi; V., Carnovale; G., Castaldo; C., Castellani; N., Cirilli; C., Colombo; F., Corti; F., Cresta; A., D'Adda; Lucarelli, Marco; V., Lucidi; A., Macchiaroli; E., Madarena; R., Padoan; Quattrucci, Serena; D., Salvatore; F., Zarrilli; V., Raia