Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S]

by Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici
Published 2016-03-01

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Published 2018-10-01

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

by Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
Published 2018-02-01