IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 251 (tempo di esecuzione: 0.044 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
Inborn error of metabolism 2.1 Contributo in volume (Capitolo o Saggio) 2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
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
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
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
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.
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
New strategies for the treatment of lysosomal stoarge diseases (Review) 1.1 Articolo in rivista 2013 Parenti, Giancarlo; Pignata, Claudio; Vajro, P.; Salerno, Mariacarolina
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.
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 1.1 Articolo in rivista 1987 Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. 1.1 Articolo in rivista 2009 Persichetti, E; Chuzhanova, Na; Dardis, A; Tappino, B; Pohl, S; Thomas, Ns; Rosano, C; Balducci, C; Paciotti, S; Dominissini, S; Montalvo, Al; Sibilio, Michelina; Parini, R; Rigoldi, M; Di Rocco, M; Parenti, Giancarlo; Orlacchio, A; Bembi, B; Cooper, Dn; Filocamo, M; Beccari, T.
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 1.1 Articolo in rivista 2008 Melis, Daniela; Balivo, F; DELLA CASA, Roberto; Romano, A; Taurisano, Roberta; Capaldo, Brunella; Riccardi, Gabriele; Monsurrò, Mr; Parenti, Giancarlo; Andria, Generoso
Mucopolysaccharidosis VI: the Italian experience 1.1 Articolo in rivista 2009 M., Scarpa; R., Barone; A., Fiumara; L., Astarita; Parenti, Giancarlo; A., Rampazzo; S., Sala; G., Sorge; R., Parini
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 1.1 Articolo in rivista 2006 Fecarotta, Simona; Parenti, Giancarlo; Vajro, Pietro; Zuppaldi, Alfredo; DELLA CASA, Roberto; Carbone, Mt; Correra, A; Torre, G; Riva, S; DIONISI VICI, C; Santorelli, Fm; Andria, Generoso
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 1.1 Articolo in rivista 1992 Ghezzi, M; Parenti, Giancarlo; de Franchis, R; Farina, Vincenzo; de Leva, F; Guarino, Alfredo; BERNI CANANI, Roberto; Strisciuglio, Pietro
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 1.1 Articolo in rivista 2009 Daniele, A.; Scala, Iris; Cardillo, G.; Pennino, C.; Ungaro, C.; Sibilio, M.; Parenti, Giancarlo; Esposito, L; Zagari, Adriana; Andria, Generoso; Salvatore, Francesco
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts 1.1 Articolo in rivista 2009 Porto, C; Cardone, M; Fontana, F; Rossi, B; Tuzzi, Mr; Tarallo, A; Barone, Maria Vittoria; Andria, Generoso; Parenti, Giancarlo