IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 251 (tempo di esecuzione: 0.052 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
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
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
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
Chaperone therapy 1.5 Abstract in rivista 2010 Parenti, Giancarlo
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
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
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 1.5 Abstract in rivista 2011 Melis, D; Carbone, F; DELLA CASA, Roberto; Minopoli, G; Parenti, Giancarlo; Andria, Generoso; Matarese, Giuseppe
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
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
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 ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 1.5 Abstract in rivista 2004 Melis, D; Parenti, Giancarlo; DELLA CASA, Roberto; Internicola, M; Majo, F; Parini, R; Riva, E; Burlina, A; Dionisi Vici, C; Papadia, R; Zammarchi, E; Andria, Generoso