IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

Mostra records
Risultati 1 - 20 di 251 (tempo di esecuzione: 0.049 secondi).
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
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
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
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
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
Lathosterolosis, a novel defect of cholesterol biosynthesis in humans associated with multiple congenital malformations and mental retardation. 1.5 Abstract in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Annunziata, I; Battagliese, A; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, G; Parenti, G.
The GH-IGF axis in glycogen storage disease type 1 (GSD1): evidence of different growth patterns and IGF levels in patients with GSD1A and GSD1B 1.5 Abstract in rivista 2008 Melis, D; Pivonello, R; Parenti, Giancarlo; Gaudieri, V; DELLA CASA, Roberto; Salerno, Mariacarolina; D'Elia, F; Piccolo, P; Lombardi, G; Colao, A; Andria, Generoso
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
Osteoporosis in glycogen storage disease type 1 patients 1.5 Abstract in rivista 2007 Melis, D; DELLA CASA, Roberto; Balivo, F; Sebastio, G; Andria, Generoso; 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
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.
Bone metabolism impairment in glycogen storage disease type 1: a case control study 1.5 Abstract in rivista 2008 Melis, D; Parenti, Giancarlo; Pivonelllo, R; DELLA CASA, Roberto; Balivo, F; Cozzolino, M; Gaudieri, V; Minichini, L; D'Elia, F; Di Vuolo, L; Lombardi, G; Colao, A; Andria, Generoso
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.
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
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.
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 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