Search Results - "Scalia, Simone"

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? by Duro, Giovanni, Zizzo, Carmela, Cammarata, Giuseppe, Burlina, Alessandro, Burlina, Alberto, Polo, Giulia, Scalia, Simone, Oliveri, Roberta, Sciarrino, Serafina, Francofonte, Daniele, Alessandro, Riccardo, Pisani, Antonio, Palladino, Giuseppe, Napoletano, Rosa, Tenuta, Maurizio, Masarone, Daniele, Limongelli, Giuseppe, Riccio, Eleonora, Frustaci, Andrea, Chimenti, Cristina, Ferri, Claudio, Pieruzzi, Federico, Pieroni, Maurizio, Spada, Marco, Castana, Cinzia, Caserta, Marina, Monte, Ines, Rodolico, Margherita Stefania, Feriozzi, Sandro, Battaglia, Yuri, Amico, Luisa, Losi, Maria Angela, Autore, Camillo, Lombardi, Marco, Zoccali, Carmine, Testa, Alessandra, Postorino, Maurizio, Mignani, Renzo, Zachara, Elisabetta, Giordano, Antonello, Colomba, Paolo

“…Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase…”
Get full text

Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area by Zizzo, Carmela, Testa, Alessandra, Colomba, Paolo, Postorino, Maurizio, Natale, Giuseppe, Pini, Alessandro, Francofonte, Daniele, Cammarata, Giuseppe, Scalia, Simone, Sciarrino, Serafina, Zoccali, Carmine, Duro, Giovanni

“…Abstract Background/Aims: Fabry disease (FD) is a lysosomal storage disorder characterized by pervasive renal involvement. However, this disease is…”
Get full text

Fabry Disease, a Complex Pathology Not Easy to Diagnose by Colomba, Paolo, Scalia, Simone, Cammarata, Giuseppe, Zizzo, Carmela, Francofonte, Daniele, Savica, Vincenzo, Alessandro, Riccardo, Iemolo, Francesco, Duro, Giovanni

“…Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to…”
Get full text

Il DBS come test diagnostico nella malattia di Fabry by Scalia, Simone

“…Abstract non disponibile…”
Get full text

An update on gene therapy for lysosomal storage disorders by Nagree, Murtaza S, Scalia, Simone, McKillop, William M, Medin, Jeffrey A

“…Gene therapies can be envisioned for many disorders where conventional therapies fall short. Lysosomal Storage Disorders (LSDs) are inherited, mostly…”
Get more information

Functional and Clinical Consequences of Novel [alpha]-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

“…Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase…”
Get full text

Pompe disease: pathogenesis, molecular genetics and diagnosis by Taverna, Simona, Cammarata, Giuseppe, Colomba, Paolo, Sciarrino, Serafina, Zizzo, Carmela, Francofonte, Daniele, Zora, Marco, Scalia, Simone, Brando, Chiara, Curto, Alessia Lo, Marsana, Emanuela Maria, Olivieri, Roberta, Vitale, Silvia, Duro, Giovanni

“…Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid…”
Get full text

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

“…ABSTRACT Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase…”
Get full text

A pilot study of circulating microRNAs as potential biomarkers of Fabry disease by Cammarata, Giuseppe, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Pisani, Antonio, Riccio, Eleonora, Montalbano, Michaela, Alessandro, Riccardo, Giordano, Antonello, Duro, Giovanni

“…Patients suffering from Fabry disease (FD), a lysosomal storage disorder, show a broad range of symptoms and the diagnosis followed by the therapeutic decision…”
Get full text

Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report by Battaglia, Yuri, Scalia, Simone, Rinaldi, Rosa, Storari, Alda, Mignani, Renzo, Russo, Domenico, Duro, Giovanni

Get more information

Il DBS come test diagnostico nella malattia di Fabry by Simone Scalia

“…Abstract non disponibile…”
Get full text

Impaired respiratory function reduces haemoglobin oxygen affinity in COVID‐19 by Bergamaschi, Gaetano, Barteselli, Chiara, Del Rio, Virginia, Borrelli de Andreis, Federica, Pellegrino, Ivan, Miceli, Emanuela, Colaneri, Marta, Zuccaro, Valentina, Di Stefano, Michele, Di Sabatino, Antonio, Achilli, Giovanna, Alimenti, Eleonora, Argelli, Alice, Aronico, Nicola, Ballesio, Alessia, Bellini, Giulia, Berbenni, Alessandra, Bertolino, Giampiera, Bianchi, Paola Ilaria, Biserni, Silvia, Bosoni, Tommaso, Brattoli, Michele, Calabretta, Francesca, Callisti, Marco, Canta, Roberta, Canu, Pietro, Cebrelli, Chiara, Cecco, Aurora, Clemente, Marina, Clerici, Luca, Codega, Silvia, Coppola, Luigi, Costanzo, Filippo, Cremonte, Maria Elisa, Delliponti, Mariangela, Del Rio, Virginia, Delogu, Claudia, Derosa, Giuseppe, Dionisi, Davide, Falaschi, Francesco, Fazzino, Erica, Ferrami, Letizia, Ferrara, Serena, Ferrari, Maria Giovanna, Freddi, Giulia, Frenna, Carmine, Frigerio, Chiara, Fumoso, Federica, Fusco, Alessandra, Galeazzo, Alice, Gaspari, Vera, Gentile, Antonella, Giangreco, Alessio, Gori, Giulia, Grandi, Giacomo, Gregorio, Virginia, Grimaldi, Paolo, Lapia, Francesco, Latorre, Mario Andrea, Lenti, Marco Vincenzo, Lobello, Antonio, Lucotti, Pietro Carlo, Maimaris, Stiliano, Mambella, Jacopo, Martignoni, Alessandra, Melazzini, Federica, Mercanti, Chiara, Merli, Stefania, Monti, Maria Elena, Mordà, Francesco, Mugellini, Amedeo, Muggia, Chiara, Muscia, Roberta, Nardone, Alba, Padovini, Lucia, Palumbo, Ilaria, Parisi, Ignazio Marzio, Peroo, Giulia Paola, Petrucci, Clarissa, Pieresca, Carla, Pitotti, Lavinia, Poma, Silvia, Preti, Paola Stefania, Quadrelli, Andrea, Rascaroli, Alessandro, Rossi, Carlo Maria, Rotola, Giorgio, Ruggeri, Damiano, Russo, Maria Concetta, Sabatini, Umberto, Saglio, Simone, Savioli, Gabriele, Savioli, Jessica, Scalvini, Davide, Soriano, Simone, Spadaro, Dario, Staniscia, Andrea, Stefani, Debora, Vai, Federico, Varallo, Matteo

Get full text

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs by Colomba, Paolo, Zizzo, Carmela, Alessandro, Riccardo, Cammarata, Giuseppe, Scalia, Simone, Giordano, Antonello, Pieroni, Maurizio, Sicurella, Luigi, Amico, Luisa, Burlina, Alessandro, Duro, Giovanni

“…Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency. Central nervous system involvement and…”
Get full text

Functional and Clinical Consequences of Novel [alpha]-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Get full text

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease: HUMAN MUTATION by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Get full text

FP907HISTORY OF ANDERSON - FABRY DISEASE by Bartolotta, Caterina, Filogamo, Marcello, Colomba, Paolo, Zizzo, Carmela, Albeggiani, Giuseppe, Scalia, Simone, Francofonte, Daniele, Cammarata, Giuseppe, Savica, Vincenzo, Duro, Giovanni

Get full text

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Get full text

De novo mutation in a male patient with Fabry disease: a case report by Iemolo, Francesco, Pizzo, Federica, Albeggiani, Giuseppe, Zizzo, Carmela, Colomba, Paolo, Scalia, Simone, Bartolotta, Caterina, Duro, Giovanni

“…Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to…”
Get full text

Cognitive impairment and Fabry Disease: a case report with mutation S126G by Razza, Grazia, Spadaro, Daniela, Giordano, Antonello, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Duro, Giovanni, Iemolo, Francesco

“…Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a…”
Get full text

Anderson-Fabry: una malattia rara? by Colomba, Paolo, Cammarata, Giuseppe, Zizzo, Carmela, Scalia, Simone, Francofonte, Daniele, Alessandro, Riccardo, Marsana, Emanuela, Consoli, Lidia, Guttadauria, Serena, Iemolo, Francesco, Savica, Vincenzo, Duro, Giovanni

“…Abstract non disponibile…”
Get full text