PARENTI, GIANCARLO
PARENTI, GIANCARLO
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
2002 Filocamo, M; Mazzotti, R; Stroppiano, M; Seri, M; Giona, F; Parenti, Giancarlo; Regis, S; Corsolini, F; Zoboli, S; Gatti, R.
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
2005 Melis, Daniela; Fulceri, R; Parenti, Giancarlo; Marcolongo, P; Gatti, R; Parini, R; Riva, E; DELLA CASA, Roberto; Zammarchi, E; Andria, Generoso; Benedetti, A.
The sulfatase gene family.
1997 Parenti, Giancarlo; Meroni, G; Ballabio, Andrea
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
2003 Cosma, Mp; Pepe, S; Annunziata, I; Newbold, Rf; Grompe, M; Parenti, G; Ballabio, Andrea
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) presenting with fulminant liver failure
2004 Parenti, Giancarlo; Fecarotta, S; Vajro, P; Zuppaldi, A; Capalbo, D; Internicola, M; Correra, A; Carbone, Mt; Andria, Generoso
THERMODYNAMICS OF INTERACTION BETWEEN RECOMBINANT HUMAN LYSOSOMAL alfa-GLUCOSIDASE AND PHARMACOLOGICAL CHAPERONES
2013 DEL VECCHIO, POMPEA GIUSEPPINA GRAZIA; I., Fotticchia; Parenti, Giancarlo; B., CORBUCCI PONZANO; Ferrara, MARIA CARMINA; Moracci, Marco
Inborn error of metabolism
2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
Derangement of mannose-6-phosphate receptor trafficking impairs lysosomal enzyme uptake in fibroblasts from lysosomal storage diseases
2008 Cardone, M; Porto, C; Tarallo, A; Rossi, B; Tuzzi, Mr; Donaudy, F; Fontana, F; Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia
2008 Scala, I; Ungaro, C; Paladino, S; Nastasi, A; Zuppaldi, A; Sibilio, M; Figliuolo, C; Scarpato, E; Capaldo, B; Cardillo, G; Daniele, A; DELLA CASA, Roberto; Parenti, Giancarlo; Andria, Generoso
Chronic Diarrhea in Mucopolysaccharidosis IIIB
2009 Sibilio, M; Miele, Erasmo; Ungaro, C; Astarita, L; Turco, R; Di Natale, P; Pontarelli, G; Vecchione, R; Andria, Generoso; Staiano, Annamaria; Parenti, Giancarlo
What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease
2013 Feeney, E. J.; Spampanato, C.; Puertollano, R.; Ballabio, Andrea; Parenti, Giancarlo; Raben, N.
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease
2005 Parenti, Giancarlo; Zuppaldi, A; Tuzzi, Mr; Rossi, M; Andria, Generoso
Update on early cardiovascular and metabolic risk factors in children and adolescents affected with growth hormone deficiency
2012 Capalbo, Donatella; Esposito, A; DI MASE, Raffaella; Barbieri, F; Parenti, Giancarlo; Vajro, P; Pignata, Claudio; Salerno, Mariacarolina
Developmental evolution in a patient withmultiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
2012 Rosa, M; Pascarella, A; Parenti, Giancarlo; Buono, S; Romano, A; DELLA CASA, Roberto; Andria, Generoso; Marino, M; Riccio, Mp; Bravaccio, Carmela
Type A Niemann-Pick disease. Description of three cases with delayed myelination
2008 D'Amico, Alessandra; Sibilio, M; Caranci, Ferdinando; Bartiromo, F; Taurisano, R; Balivo, F; Melis, D; Parenti, Giancarlo; Cirillo, S; Elefante, Raffaele; Brunetti, Arturo
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
2010 Catanzano, F; Ombrone, D; Di Stefano, C; Rossi, A; Nosari, N; Scolamiero, E; Tandurella, I; Frisso, Giulia; Parenti, Giancarlo; Ruoppolo, Margherita; Andria, Generoso; Salvatore, Francesco
Biochemical characterization' of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
1998 Daniele, Aurora; Parenti, G.; Daddio, M.; Andria, G.; Meroni, A. Ballabio And G.
Mutational analysis of the GNPTG gene in patients with mucolipidosis III
2007 Pittis, Mg; Persichetti, E; Montalvo, A; Balducci, C; Parenti, Giancarlo; Sibilio, M; Filocamo, M; Parini, R; Rigoldi, M; Dominissini, S; Codini, M; Bembi, B; Beccari, T.
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study
2004 Melis, D; Parenti, Giancarlo; DELLA CASA, Roberto; Internicola, M; Majo, F; Parini, R; Riva, E; Burlina, A; Dionisi Vici, C; Papadia, R; Zammarchi, E; Andria, Generoso
Chaperone therapy
2010 Parenti, Giancarlo
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. | 1.1 Articolo in rivista | 2002 | Filocamo, M; Mazzotti, R; Stroppiano, M; Seri, M; Giona, F; Parenti, Giancarlo; Regis, S; Corsolini, F; Zoboli, S; Gatti, R. | |
| Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. | 1.1 Articolo in rivista | 2005 | Melis, Daniela; Fulceri, R; Parenti, Giancarlo; Marcolongo, P; Gatti, R; Parini, R; Riva, E; DELLA CASA, Roberto; Zammarchi, E; Andria, Generoso; Benedetti, A. | |
| The sulfatase gene family. | 1.1 Articolo in rivista | 1997 | Parenti, Giancarlo; Meroni, G; Ballabio, Andrea | |
| The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. | 1.1 Articolo in rivista | 2003 | Cosma, Mp; Pepe, S; Annunziata, I; Newbold, Rf; Grompe, M; Parenti, G; Ballabio, Andrea | |
| Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) presenting with fulminant liver failure | 1.5 Abstract in rivista | 2004 | Parenti, Giancarlo; Fecarotta, S; Vajro, P; Zuppaldi, A; Capalbo, D; Internicola, M; Correra, A; Carbone, Mt; Andria, Generoso | |
| THERMODYNAMICS OF INTERACTION BETWEEN RECOMBINANT HUMAN LYSOSOMAL alfa-GLUCOSIDASE AND PHARMACOLOGICAL CHAPERONES | 4.2 Abstract in Atti di convegno | 2013 | DEL VECCHIO, POMPEA GIUSEPPINA GRAZIA; I., Fotticchia; Parenti, Giancarlo; B., CORBUCCI PONZANO; Ferrara, MARIA CARMINA; Moracci, Marco | |
| Inborn error of metabolism | 2.1 Contributo in volume (Capitolo o Saggio) | 2011 | BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso | |
| Derangement of mannose-6-phosphate receptor trafficking impairs lysosomal enzyme uptake in fibroblasts from lysosomal storage diseases | 1.5 Abstract in rivista | 2008 | Cardone, M; Porto, C; Tarallo, A; Rossi, B; Tuzzi, Mr; Donaudy, F; Fontana, F; Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo | |
| Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia | 1.5 Abstract in rivista | 2008 | Scala, I; Ungaro, C; Paladino, S; Nastasi, A; Zuppaldi, A; Sibilio, M; Figliuolo, C; Scarpato, E; Capaldo, B; Cardillo, G; Daniele, A; DELLA CASA, Roberto; Parenti, Giancarlo; Andria, Generoso | |
| Chronic Diarrhea in Mucopolysaccharidosis IIIB | 1.1 Articolo in rivista | 2009 | Sibilio, M; Miele, Erasmo; Ungaro, C; Astarita, L; Turco, R; Di Natale, P; Pontarelli, G; Vecchione, R; Andria, Generoso; Staiano, Annamaria; Parenti, Giancarlo | |
| What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease | 1.1 Articolo in rivista | 2013 | Feeney, E. J.; Spampanato, C.; Puertollano, R.; Ballabio, Andrea; Parenti, Giancarlo; Raben, N. | |
| Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease | 1.5 Abstract in rivista | 2005 | Parenti, Giancarlo; Zuppaldi, A; Tuzzi, Mr; Rossi, M; Andria, Generoso | |
| Update on early cardiovascular and metabolic risk factors in children and adolescents affected with growth hormone deficiency | 1.1 Articolo in rivista | 2012 | Capalbo, Donatella; Esposito, A; DI MASE, Raffaella; Barbieri, F; Parenti, Giancarlo; Vajro, P; Pignata, Claudio; Salerno, Mariacarolina | |
| Developmental evolution in a patient withmultiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment. | 1.1 Articolo in rivista | 2012 | Rosa, M; Pascarella, A; Parenti, Giancarlo; Buono, S; Romano, A; DELLA CASA, Roberto; Andria, Generoso; Marino, M; Riccio, Mp; Bravaccio, Carmela | |
| Type A Niemann-Pick disease. Description of three cases with delayed myelination | 1.1 Articolo in rivista | 2008 | D'Amico, Alessandra; Sibilio, M; Caranci, Ferdinando; Bartiromo, F; Taurisano, R; Balivo, F; Melis, D; Parenti, Giancarlo; Cirillo, S; Elefante, Raffaele; Brunetti, Arturo | |
| The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach | 1.1 Articolo in rivista | 2010 | Catanzano, F; Ombrone, D; Di Stefano, C; Rossi, A; Nosari, N; Scolamiero, E; Tandurella, I; Frisso, Giulia; Parenti, Giancarlo; Ruoppolo, Margherita; Andria, Generoso; Salvatore, Francesco | |
| Biochemical characterization' of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata | 1.1 Articolo in rivista | 1998 | Daniele, Aurora; Parenti, G.; Daddio, M.; Andria, G.; Meroni, A. Ballabio And G. | |
| Mutational analysis of the GNPTG gene in patients with mucolipidosis III | 1.5 Abstract in rivista | 2007 | Pittis, Mg; Persichetti, E; Montalvo, A; Balducci, C; Parenti, Giancarlo; Sibilio, M; Filocamo, M; Parini, R; Rigoldi, M; Dominissini, S; Codini, M; Bembi, B; Beccari, T. | |
| Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study | 1.5 Abstract in rivista | 2004 | Melis, D; Parenti, Giancarlo; DELLA CASA, Roberto; Internicola, M; Majo, F; Parini, R; Riva, E; Burlina, A; Dionisi Vici, C; Papadia, R; Zammarchi, E; Andria, Generoso | |
| Chaperone therapy | 1.5 Abstract in rivista | 2010 | Parenti, Giancarlo |