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

Por Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Publicado no BMC Med Genet (2016)

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

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

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

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

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

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

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

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

Multiple sulfatase deficiency with neonatal manifestation

Por 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
Publicado no Ital J Pediatr (2014)

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

Por 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
Publicado no Orphanet J Rare Dis (2015)

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

Por 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
Publicado em 2011

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Por 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
Publicado em 2011