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

Autor Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Vydáno v BMC Med Genet (2016)

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Autor Tummolo, Albina, Gabrielli, Orazio, Gaeta, Alberto, Masciopinto, Maristella, Zampini, Lucia, Pavone, Luigi Michele, Di Natale, Paola, Papadia, Francesco
Vydáno 2013

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

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

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

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

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

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

Multiple sulfatase deficiency with neonatal manifestation

Autor 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
Vydáno v Ital J Pediatr (2014)

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

Autor 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
Vydáno v Orphanet J Rare Dis (2015)

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

Autor Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco
Vydáno 2011

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Autor Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe
Vydáno 2011