IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

Mostra records
Risultati 1 - 20 di 250 (tempo di esecuzione: 0.043 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Inborn error of metabolism 2.1 Contributo in volume (Capitolo o Saggio) 2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
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.
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
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
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
Oligosaccharidoses and related disorders 2.1 Contributo in volume (Capitolo o Saggio) 2003 Andria, Generoso; Parenti, Giancarlo
Imino sugars deoxynojirimycin and N-butyldeoxynojirimycin enhance alpha-glucosidase activity in fibroblasts from patients with intermediate and late onset Pompe disease 1.5 Abstract in rivista 2006 Andria, Generoso; Zuppaldi, A; Tuzzi, Mr; Pittis, Mg; Rossi, M; Filocamo, M; Bembi, B; 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
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease 1.1 Articolo in rivista 2013 Spampanato, C.; Feeney, E.; Li, L.; Cardone, M.; Lim, J. A.; Annunziata, Fabio; Zare, H.; Polishchuk, R.; Puertollano, R.; Parenti, Giancarlo; Ballabio, Andrea; Raben, N.
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.
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
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
Hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type I 1.5 Abstract in rivista 2005 Melis, D; Pivonello, Rosario; DELLA CASA, Roberto; Salerno, Mariacarolina; Parenti, Giancarlo; Lombardi, G; Colao, A; Andria, Generoso
New strategies for the treatment of lysosomal stoarge diseases (Review) 1.1 Articolo in rivista 2013 Parenti, Giancarlo; Pignata, Claudio; Vajro, P.; Salerno, Mariacarolina
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
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.