Self-reported adherence supports patient preference for the single tablet regimen (STR) in the current cART era

מאת Sterrantino, Gaetana, Santoro, Lucia, Bartolozzi, Dario, Trotta, Michele, Zaccarelli, Mauro
יצא לאור 2012

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

מאת Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
הוצא לאור ב BMC Med Genet (2016)

Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

מאת Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
הוצא לאור ב JIMD Rep (2020)

Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase

מאת Coppa, Giovanni V., Buzzega, Dania, Zampini, Lucia, Maccari, Francesca, Santoro, Lucia, Galeotti, Fabio, Galeazzi, Tiziana, Gabrielli, Orazio, Volpi, Nicola
יצא לאור 2011

Human milk glycosaminoglycans: the state of the art and future perspectives

מאת Coppa Giovanni Valentino, Gabrielli Orazio, Bertino Enrico, Zampini Lucia, Galeazzi Tiziana, Padella Lucia, Santoro Lucia, Marchesiello Rita Lucia, Galeotti Fabio, Maccari Francesca, Volpi Nicola
יצא לאור 2013-01-01

Human milk glycosaminoglycans: the state of the art and future perspectives

מאת Coppa, Giovanni Valentino, Gabrielli, Orazio, Bertino, Enrico, Zampini, Lucia, Galeazzi, Tiziana, Padella, Lucia, Santoro, Lucia, Marchesiello, Rita Lucia, Galeotti, Fabio, Maccari, Francesca, Volpi, Nicola
יצא לאור 2013

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

מאת Zanetti, Alessandra, D’Avanzo, Francesca, Rigon, Laura, Rampazzo, Angelica, Concolino, Daniela, Barone, Rita, Volpi, Nicola, Santoro, Lucia, Lualdi, Susanna, Bertola, Francesca, Scarpa, Maurizio, Tomanin, Rosella
הוצא לאור ב Eur J Pediatr (2019)

Multiple sulfatase deficiency with neonatal manifestation

מאת Garavelli, Livia, Santoro, Lucia, Iori, Alexandra, Gargano, Giancarlo, Braibanti, Silvia, Pedori, Simona, Melli, Nives, Frattini, Daniele, Zampini, Lucia, Galeazzi, Tiziana, Padella, Lucia, Pepe, Stefano, Wischmeijer, Anita, Rosato, Simonetta, Ivanovski, Ivan, Iughetti, Lorenzo, Gelmini, Chiara, Bernasconi, Sergio, Superti-Furga, Andrea, Ballabio, Andrea, Gabrielli, Orazio
הוצא לאור ב Ital J Pediatr (2014)

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

מאת Dardis, Andrea, Zampieri, Stefania, Gellera, Cinzia, Carrozzo, Rosalba, Cattarossi, Silvia, Peruzzo, Paolo, Dariol, Rosalia, Sechi, Annalisa, Deodato, Federica, Caccia, Claudio, Verrigni, Daniela, Gasperini, Serena, Fiumara, Agata, Fecarotta, Simona, Carecchio, Miryam, Filosto, Massimiliano, Santoro, Lucia, Borroni, Barbara, Bordugo, Andrea, Brancati, Francesco, Russo, Cinzia V., Di Rocco, Maja, Toscano, Antonio, Scarpa, Maurizio, Bembi, Bruno
הוצא לאור ב J Clin Med (2020)

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

מאת Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
הוצא לאור ב Orphanet J Rare Dis (2015)