Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

by Parenti, Giancarlo
Published 2009

S1.2 The pediatrician and the early onset Pompe disease

by Fecarotta, Simona, Parenti, Giancarlo, Ascione, Serena, Montefusco, Giuseppe, Andria, Generoso
Published 2011

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

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

Precocious puberty in Turner Syndrome: report of a case and review of the literature

by Improda, Nicola, Rezzuto, Martina, Alfano, Sara, Parenti, Giancarlo, Vajro, Pietro, Pignata, Claudio, Salerno, Mariacarolina
Published 2012

A case of galactosemia misdiagnosed as cow’s milk intolerance

by Casa, Roberto Della, Ungaro, Carla, Acampora, Emma, Pignata, Claudio, Vajro, Pietro, Salerno, Mariacarolina, Santamaria, Francesca, Parenti, Giancarlo
Published 2012

Therapeutic options in pediatric non alcoholic fatty liver disease: current status and future directions

by Vajro, Pietro, Lenta, Selvaggia, Pignata, Claudio, Salerno, Mariacarolina, D’Aniello, Roberta, De Micco, Ida, Paolella, Giulia, Parenti, Giancarlo
Published 2012

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

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

Hypertransaminasemia and fatal lung disease: a case report

by Santamaria, Francesca, De Stefano, Sara, Montella, Silvia, Maglione, Marco, Della Casa, Roberto, Acampora, Emma, Pignata, Claudio, Salerno, Mariacarolina, Parenti, Giancarlo
Published 2013

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

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

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

by Spampanato, Carmine, Feeney, Erin, Li, Lishu, Cardone, Monica, Lim, Jeong-A, Annunziata, Fabio, Zare, Hossein, Polishchuk, Roman, Puertollano, Rosa, Parenti, Giancarlo, Ballabio, Andrea, Raben, Nina
Published 2013

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

by Capalbo, Donatella, De Martino, Lucia, Giardino, Giuliana, Di Mase, Raffaella, Di Donato, Iolanda, Parenti, Giancarlo, Vajro, Pietro, Pignata, Claudio, Salerno, Mariacarolina
Published 2012

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

by 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
Published 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...

by 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
Published 2015

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

by Di Fruscio, Giuseppina, Schulz, Angela, De Cegli, Rossella, Savarese, Marco, Mutarelli, Margherita, Parenti, Giancarlo, Banfi, Sandro, Braulke, Thomas, Nigro, Vincenzo, Ballabio, Andrea
Published 2015

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

by 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
Published 2015

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

by 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
Published 2015

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

by Polishchuk, Elena V., Concilli, Mafalda, Iacobacci, Simona, Chesi, Giancarlo, Pastore, Nunzia, Piccolo, Pasquale, Paladino, Simona, Baldantoni, Daniela, van IJzendoorn, Sven C.D., Chan, Jefferson, Chang, Christopher J., Amoresano, Angela, Pane, Francesca, Pucci, Piero, Tarallo, Antonietta, Parenti, Giancarlo, Brunetti-Pierri, Nicola, Settembre, Carmine, Ballabio, Andrea, Polishchuk, Roman S.
Published 2014

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

by 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
Published 2015