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
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease
2005 Parenti, Giancarlo; Zuppaldi, A; Tuzzi, Mr; Rossi, M; Andria, Generoso
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.
Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience.
2013 Mesolella, Massimo; Cimmino, M.; Cantone, E.; Marino, A.; Cozzolino, M.; DELLA CASA, Roberto; Parenti, G.; Iengo, Maurizio
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
2002 Corso, G; Rossi, M; DE BRASI, D; Rossi, I; Parenti, Giancarlo; DELLO RUSSO, A.
Treatment of children with chronic viral hepatitis: what is available and what is in store.
2013 Vajro, P; Veropalumbo, Claudio; Maddaluno, Sergio; Salerno, Mariacarolina; Parenti, Giancarlo; Pignata, Claudio
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
1998 Melis, D; Perone, L; Sperandeo, Mp; Sabbatino, Ms; Tuzzi, Mr; Romano, A; Parenti, Giancarlo; Andria, Generoso
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
1996 Santamaria, F; Parenti, Giancarlo; Guidi, G; Rotondo, Antonio; Grillo, G; Larocca, Mr; Celentano, Luigi; Strisciuglio, Pietro; Sebastio, G; Andria, G.
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials.
1998 Toscano, E; Perretti, A; Balbi, P; Silvestro, E; Andria, Generoso; Parenti, Giancarlo
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.
2006 DI ROCCO, M; Rossi, A; Parenti, Giancarlo; Allegri, Ae; Filocamo, M; Pessagno, A; TORTORI DONATI, P; Minetti, C; Biancheri, R.
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study
2009 Tessa, A; Fiermonte, G; Dionisi Vici, C; Paradies, E; Baumgartner, Mr; Chien, Yh; Loguercio, C; de Baulny, Ho; Nassogne, Mc; Schiff, M; Deodato, F; Parenti, Giancarlo; Rutledge, Sl; Vilaseca, Ma; Melone, Ma; Scarano, G; Aldamiz Echevarría, L; Besley, G; Walter, J; Martinez Hernandez, E; Hernandez, Jm; Pierri, Cl; Palmieri, F; Santorelli, Fm
Echo-Doppler abnormalities in mucopolysaccharide storage diseases
1992 Farina, V; De Leva, F; Caso, P; Scippa, L; Parenti, Giancarlo; Strisciuglio, Pietro
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
2010 Esposito, Gabriella; M. R., Imperato; L., Ieno; R., Sorvillo; V., Benigno; Parenti, Giancarlo; R., Parini; L., Vitagliano; Zagari, Adriana; Salvatore, Francesco
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
Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation.
2002 Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, Generoso
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
Efficacy of Miglustat on dysphagia in four Nemann-Pick patients
2008 Bruschini, D; Fecarotta, S; Astarita, L; Romano, A; Mansi, G; Amitrano, M; Dolezalova, H; DELLA CASA, Roberto; Parenti, Giancarlo; Andria, Generoso
| 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 | |
| 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 | |
| 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. | |
| Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience. | 1.1 Articolo in rivista | 2013 | Mesolella, Massimo; Cimmino, M.; Cantone, E.; Marino, A.; Cozzolino, M.; DELLA CASA, Roberto; Parenti, G.; Iengo, Maurizio | |
| Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. | 1.1 Articolo in rivista | 2002 | Corso, G; Rossi, M; DE BRASI, D; Rossi, I; Parenti, Giancarlo; DELLO RUSSO, A. | |
| Treatment of children with chronic viral hepatitis: what is available and what is in store. | 1.1 Articolo in rivista | 2013 | Vajro, P; Veropalumbo, Claudio; Maddaluno, Sergio; Salerno, Mariacarolina; Parenti, Giancarlo; Pignata, Claudio | |
| Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. | 1.1 Articolo in rivista | 1998 | Melis, D; Perone, L; Sperandeo, Mp; Sabbatino, Ms; Tuzzi, Mr; Romano, A; Parenti, Giancarlo; Andria, Generoso | |
| Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods | 1.1 Articolo in rivista | 1996 | Santamaria, F; Parenti, Giancarlo; Guidi, G; Rotondo, Antonio; Grillo, G; Larocca, Mr; Celentano, Luigi; Strisciuglio, Pietro; Sebastio, G; Andria, G. | |
| Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials. | 1.1 Articolo in rivista | 1998 | Toscano, E; Perretti, A; Balbi, P; Silvestro, E; Andria, Generoso; Parenti, Giancarlo | |
| Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. | 1.1 Articolo in rivista | 2006 | DI ROCCO, M; Rossi, A; Parenti, Giancarlo; Allegri, Ae; Filocamo, M; Pessagno, A; TORTORI DONATI, P; Minetti, C; Biancheri, R. | |
| Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study | 1.1 Articolo in rivista | 2009 | Tessa, A; Fiermonte, G; Dionisi Vici, C; Paradies, E; Baumgartner, Mr; Chien, Yh; Loguercio, C; de Baulny, Ho; Nassogne, Mc; Schiff, M; Deodato, F; Parenti, Giancarlo; Rutledge, Sl; Vilaseca, Ma; Melone, Ma; Scarano, G; Aldamiz Echevarría, L; Besley, G; Walter, J; Martinez Hernandez, E; Hernandez, Jm; Pierri, Cl; Palmieri, F; Santorelli, Fm | |
| Echo-Doppler abnormalities in mucopolysaccharide storage diseases | 1.1 Articolo in rivista | 1992 | Farina, V; De Leva, F; Caso, P; Scippa, L; Parenti, Giancarlo; Strisciuglio, Pietro | |
| Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion | 1.1 Articolo in rivista | 2010 | Esposito, Gabriella; M. R., Imperato; L., Ieno; R., Sorvillo; V., Benigno; Parenti, Giancarlo; R., Parini; L., Vitagliano; Zagari, Adriana; Salvatore, Francesco | |
| 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 | |
| Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation. | 1.5 Abstract in rivista | 2002 | Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, Generoso | |
| 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 | |
| Efficacy of Miglustat on dysphagia in four Nemann-Pick patients | 1.5 Abstract in rivista | 2008 | Bruschini, D; Fecarotta, S; Astarita, L; Romano, A; Mansi, G; Amitrano, M; Dolezalova, H; DELLA CASA, Roberto; Parenti, Giancarlo; Andria, Generoso |