IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 248 (tempo di esecuzione: 0.05 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 1.5 Abstract in rivista 2008 Melis, D; Parenti, Giancarlo; Pivonello, Rosario; Gaudieri, V; DELLA CASA, Roberto; Salerno, Mariacarolina; D'Elia, F; Lombardi, G; De Bellis, A; Colao, A; 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
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.
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.
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.
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
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
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
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
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
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
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 1.1 Articolo in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, Generoso; 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
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