IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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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
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
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.
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
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.
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
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
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
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
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.
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
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.
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
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient 1.1 Articolo in rivista 2006 Regis, S; Lualdi, S; Biffi, A; Sessa, M; Corsolini, F; Parenti, Giancarlo; Filocamo, M.