PARENTI, GIANCARLO
PARENTI, GIANCARLO
Dipartimento di Scienze mediche traslazionali
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
2008 Melis, Daniela; Balivo, F; DELLA CASA, Roberto; Romano, A; Taurisano, Roberta; Capaldo, Brunella; Riccardi, Gabriele; Monsurrò, Mr; Parenti, Giancarlo; Andria, Generoso
Steroid sulphatasedeficiency is present in patients with the syndrome 'ichthyosis and malehypogonadism' and with 'Rud syndrome'.
1984 Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, Salvatore; Piccirillo, A.
Molecular characterization of patients with chondrodysplasia punctata
2000 BRUNETTI PIERRI, Nicola; Meroni, G; Tuzzi, Mr; Andreucci, Mv; Ballabio, Andrea; Andria, Generoso; Parenti, G.
Steroid sulphatase deficiency and hypogonadism
1984 Andria, G; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, S; Piccirillo, A.
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.
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001
2001 Filocamo, M; Regis, S; Mazzotti, R; Parenti, Giancarlo; Stroppiano, M; Gatti, R.
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
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease
2008 Pittis, M. G.; Donnarumma, M.; Montalvo, A. L.; Dominissini, S.; Kroos, M.; Rosano, C.; Strppiano, M.; Bianco, M. G.; Donati, M. A.; Parenti, Giancarlo; D'Amico, A.; Ciana, G.; DI ROCCO, M.; Reuser, A.; Bembi, B.; Filocamo, M.
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts
2008 Cardone, M.; Porto, C.; Tarallo, A.; Vicinanza, M.; Rossi, B.; Polishchuk, E.; Donaudy, F.; Andria, Generoso; DE MATTEIS, Maria Antonietta; Parenti, Giancarlo
Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC)
2008 Sibilio, M; DELLA CASA, Roberto; Romano, A; Mansi, G; Morrone, A; Donati, A; Fontana, F; Minichini, L; Ungaro, C; Cavicchi, C; Bruschini, D; Andria, Generoso; Parenti, Giancarlo
Molecular analysis of 82 mucopolysaccharidosis type I patients: multinational spectrum in the european population and identification of 28 novel mutations
2008 Bertola, F; Parini, R; Casati, G; Tylki, Szymanska; Okur, I; Tuysuz, B; Dalmau, J; Gonzales Meneses, A; Antuzzi, D; Barone, R; Dionisi Vici, C; Donati, A; Filocamo, M; Gabrielli, O; Parenti, Giancarlo; Scarpa, M; Uziel, G; Biondi, A.
Methylmalonioc aciduria: Molecular analysis of the MUT and MMACHC genes in 47 Italian patients
2008 Caicchi, C; Donati, A; Pasquini, E; Parini, R; Furlan, F; Sibilio, M; Parenti, Giancarlo; Dionisi Vici, C; Bartuli, A; Papadia, F; Zammarchi, E; Guerrini, R; Morrone, A.
Detection of early abnormalities in the mucopolysaccharidoses by the use of visual and brainstem auditory evoked potentials
1990 Perretti, A; Petrillo, A; Pelosi, L; Balbi, P; Parenti, Giancarlo; Riemma, A; Strisciuglio, Pietro
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
Inborn error of metabolism
2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia.
1995 Lecora, M; Parenti, Giancarlo; Iaccarino, E; Scarano, G; Cucchiara, S; Andria, Generoso
Otorhinolaryngological management in the Mucopolysaccharidoses
2009 Marino, A; Cozzolino, M; Mesolella, Massimo; Cimmino, Mariano; Cantone, E; De Blasio, D; Vitiello, F; Cappuccio, G; Parenti, Giancarlo; Galli, V; DELLA CASA, Roberto
Enzyme replacement therapy for mucopolysaccharidosis VI in Italy
2008 Scarpa, M; Barone, R; Fiumara, A; Astarita, L; Parenti, Giancarlo; Rampazzo, A; Sala, S; Parini, R.
Effect of supplementation with vitamin E on neutropenia in patients with glycogen storage disease type 1B
2007 Melis, D; DELLA CASA, Roberto; Gaudieri, V; Cacciapuoti, C; Ferruzzi, F; Sebastio, G; Andria, Generoso; Parenti, Giancarlo
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 |
|---|---|---|---|---|
| Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? | 1.1 Articolo in rivista | 2008 | Melis, Daniela; Balivo, F; DELLA CASA, Roberto; Romano, A; Taurisano, Roberta; Capaldo, Brunella; Riccardi, Gabriele; Monsurrò, Mr; Parenti, Giancarlo; Andria, Generoso | |
| Steroid sulphatasedeficiency is present in patients with the syndrome 'ichthyosis and malehypogonadism' and with 'Rud syndrome'. | 1.1 Articolo in rivista | 1984 | Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, Salvatore; Piccirillo, A. | |
| Molecular characterization of patients with chondrodysplasia punctata | 1.1 Articolo in rivista | 2000 | BRUNETTI PIERRI, Nicola; Meroni, G; Tuzzi, Mr; Andreucci, Mv; Ballabio, Andrea; Andria, Generoso; Parenti, G. | |
| Steroid sulphatase deficiency and hypogonadism | 1.1 Articolo in rivista | 1984 | Andria, G; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, S; Piccirillo, A. | |
| 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. | |
| A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001 | 1.1 Articolo in rivista | 2001 | Filocamo, M; Regis, S; Mazzotti, R; Parenti, Giancarlo; Stroppiano, M; Gatti, R. | |
| 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 | |
| Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease | 1.1 Articolo in rivista | 2008 | Pittis, M. G.; Donnarumma, M.; Montalvo, A. L.; Dominissini, S.; Kroos, M.; Rosano, C.; Strppiano, M.; Bianco, M. G.; Donati, M. A.; Parenti, Giancarlo; D'Amico, A.; Ciana, G.; DI ROCCO, M.; Reuser, A.; Bembi, B.; Filocamo, M. | |
| Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts | 1.1 Articolo in rivista | 2008 | Cardone, M.; Porto, C.; Tarallo, A.; Vicinanza, M.; Rossi, B.; Polishchuk, E.; Donaudy, F.; Andria, Generoso; DE MATTEIS, Maria Antonietta; Parenti, Giancarlo | |
| Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC) | 1.5 Abstract in rivista | 2008 | Sibilio, M; DELLA CASA, Roberto; Romano, A; Mansi, G; Morrone, A; Donati, A; Fontana, F; Minichini, L; Ungaro, C; Cavicchi, C; Bruschini, D; Andria, Generoso; Parenti, Giancarlo | |
| Molecular analysis of 82 mucopolysaccharidosis type I patients: multinational spectrum in the european population and identification of 28 novel mutations | 1.5 Abstract in rivista | 2008 | Bertola, F; Parini, R; Casati, G; Tylki, Szymanska; Okur, I; Tuysuz, B; Dalmau, J; Gonzales Meneses, A; Antuzzi, D; Barone, R; Dionisi Vici, C; Donati, A; Filocamo, M; Gabrielli, O; Parenti, Giancarlo; Scarpa, M; Uziel, G; Biondi, A. | |
| Methylmalonioc aciduria: Molecular analysis of the MUT and MMACHC genes in 47 Italian patients | 1.5 Abstract in rivista | 2008 | Caicchi, C; Donati, A; Pasquini, E; Parini, R; Furlan, F; Sibilio, M; Parenti, Giancarlo; Dionisi Vici, C; Bartuli, A; Papadia, F; Zammarchi, E; Guerrini, R; Morrone, A. | |
| Detection of early abnormalities in the mucopolysaccharidoses by the use of visual and brainstem auditory evoked potentials | 1.1 Articolo in rivista | 1990 | Perretti, A; Petrillo, A; Pelosi, L; Balbi, P; Parenti, Giancarlo; Riemma, A; Strisciuglio, Pietro | |
| 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 | |
| Inborn error of metabolism | 2.1 Contributo in volume (Capitolo o Saggio) | 2011 | BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso | |
| Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia. | 1.1 Articolo in rivista | 1995 | Lecora, M; Parenti, Giancarlo; Iaccarino, E; Scarano, G; Cucchiara, S; Andria, Generoso | |
| Otorhinolaryngological management in the Mucopolysaccharidoses | 1.5 Abstract in rivista | 2009 | Marino, A; Cozzolino, M; Mesolella, Massimo; Cimmino, Mariano; Cantone, E; De Blasio, D; Vitiello, F; Cappuccio, G; Parenti, Giancarlo; Galli, V; DELLA CASA, Roberto | |
| Enzyme replacement therapy for mucopolysaccharidosis VI in Italy | 1.5 Abstract in rivista | 2008 | Scarpa, M; Barone, R; Fiumara, A; Astarita, L; Parenti, Giancarlo; Rampazzo, A; Sala, S; Parini, R. | |
| Effect of supplementation with vitamin E on neutropenia in patients with glycogen storage disease type 1B | 1.5 Abstract in rivista | 2007 | Melis, D; DELLA CASA, Roberto; Gaudieri, V; Cacciapuoti, C; Ferruzzi, F; Sebastio, G; Andria, Generoso; Parenti, Giancarlo | |
| 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 |