Impact in Italy of research in pediatrics

por Andria, Generoso
Publicado 2014

S1.2 The pediatrician and the early onset Pompe disease

por Fecarotta, Simona, Parenti, Giancarlo, Ascione, Serena, Montefusco, Giuseppe, Andria, Generoso
Publicado 2011

Respiratory manifestations in patients with inherited metabolic diseases

por Santamaria, Francesca, Montella, Silvia, Mirra, Virginia, De Stefano, Sara, Andria, Generoso, Parenti, Giancarlo
Publicado 2013

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

por Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso
Publicado 2012

S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease

por Parenti, Giancarlo, Porto, Caterina, Acampora, Emma, Avolio, Valeria, Gagliardo, Cristina, Rosa, Margherita, Fecarotta, Simona, Andria, Generoso
Publicado 2011

Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity

por Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo
Publicado 2014

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

por Granese, Barbara, Scala, Iris, Spatuzza, Carmen, Valentino, Anna, Coletta, Marcella, Vacca, Rosa Anna, De Luca, Pasquale, Andria, Generoso
Publicado 2013

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

por Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo
Publicado 2009

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

por Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo
Publicado 2013

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

por Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Publicado 2014

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

por Cardone, Monica, Porto, Caterina, Tarallo, Antonietta, Vicinanza, Mariella, Rossi, Barbara, Polishchuk, Elena, Donaudy, Francesca, Andria, Generoso, De Matteis, Maria Antonietta, Parenti, Giancarlo
Publicado 2008

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Publicado 2016

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

por Catanzano, Francesca, Ombrone, Daniela, Di Stefano, Cristina, Rossi, Anna, Nosari, Norberto, Scolamiero, Emanuela, Tandurella, Igor, Frisso, Giulia, Parenti, Giancarlo, Ruoppolo, Margherita, Andria, Generoso, Salvatore, Francesco
Publicado 2010

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal gluc...

por Melis, Daniela, Rossi, Alessandro, Pivonello, Rosario, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, Giovanna, Casa, Roberto Della, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, Parenti, Giancarlo
Publicado 2015

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

por Scala, Iris, Concolino, Daniela, Casa, Roberto Della, Nastasi, Anna, Ungaro, Carla, Paladino, Serena, Capaldo, Brunella, Ruoppolo, Margherita, Daniele, Aurora, Bonapace, Giuseppe, Strisciuglio, Pietro, Parenti, Giancarlo, Andria, Generoso
Publicado 2015

Homocysteine Lowering by Folate-Rich Diet or Pharmacological Supplementations in Subjects with Moderate Hyperhomocysteinemia

por Zappacosta, Bruno, Mastroiacovo, Pierpaolo, Persichilli, Silvia, Pounis, George, Ruggeri, Stefania, Minucci, Angelo, Carnovale, Emilia, Andria, Generoso, Ricci, Roberta, Scala, Iris, Genovese, Orazio, Turrini, Aida, Mistura, Lorenza, Giardina, Bruno, Iacoviello, Licia
Publicado 2013

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

por Di Rocco, Maja, Di Fonzo, Alessio, Barbato, Antonio, Cappellini, Maria Domenica, Carubbi, Francesca, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Pession, Andrea, Quarta, Antonella, Scarpa, Maurizio, Spada, Marco, Strisciuglio, Pietro, Andria, Generoso
Publicado 2020

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates...

por Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Parenti, Giancarlo, Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, Ans, Andria, Generoso, Brunetti-Pierri, Nicola, Auricchio, Alberto
Publicado 2015

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado 2007

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 2015