IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 248 (tempo di esecuzione: 0.051 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
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
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
New strategies for the treatment of lysosomal stoarge diseases (Review) 1.1 Articolo in rivista 2013 Parenti, Giancarlo; Pignata, Claudio; Vajro, P.; Salerno, Mariacarolina
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 1.1 Articolo in rivista 2010 Catanzano, F; Ombrone, D; Di Stefano, C; Rossi, A; Nosari, N; Scolamiero, E; Tandurella, I; Frisso, Giulia; Parenti, Giancarlo; Ruoppolo, Margherita; Andria, Generoso; Salvatore, Francesco
Developmental evolution in a patient withmultiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment. 1.1 Articolo in rivista 2012 Rosa, M; Pascarella, A; Parenti, Giancarlo; Buono, S; Romano, A; DELLA CASA, Roberto; Andria, Generoso; Marino, M; Riccio, Mp; Bravaccio, Carmela
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.