IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 1.1 Articolo in rivista 1996 Santamaria, F; Parenti, Giancarlo; Guidi, G; Rotondo, Antonio; Grillo, G; Larocca, Mr; Celentano, Luigi; Strisciuglio, Pietro; Sebastio, G; Andria, G.
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
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.
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
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1 1.1 Articolo in rivista 2004 Ricci, V; Stroppiano, M; Corsolini, F; DI ROCCO, M; Parenti, Giancarlo; Regis, S; Grossi, S; Biancheri, R; Mazzotti, R; Filocamo, M.
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
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.
Chaperone therapy 1.5 Abstract in rivista 2010 Parenti, Giancarlo
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
More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia 1.1 Articolo in rivista 1988 Andria, G; Ballabio, Andrea; Parenti, Giancarlo
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor. 1.1 Articolo in rivista 1988 Willemsen, R; Kroos, M; Hoogeveen, At; van Dongen, Jm; Parenti, Giancarlo; van der Loos, Cm; Reuser, Aj
Echo-Doppler abnormalities in mucopolysaccharide storage diseases 1.1 Articolo in rivista 1992 Farina, V; de Leva, F; Caso, P; Scippa, L; Parenti, Giancarlo; Strisciuglio, Pietro
Identification of novel L2HGDH gene mutations and update of the pathological spectrum 1.1 Articolo in rivista 2010 Vilarinho, L; Tafulo, S; Sibilio, M; Kok, F; Fontana, F; Diogo, L; Venâncio, M; Ferreira, M; Nogueira, C; Valongo, C; Parenti, Giancarlo; Amorim, A; Azevedo, L.
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. 1.1 Articolo in rivista 1998 Melis, D; Perone, L; Sperandeo, Mp; Sabbatino, Ms; Tuzzi, Mr; Romano, A; Parenti, Giancarlo; Andria, Generoso
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. 1.1 Articolo in rivista 1996 Caruso, U; Adami, A; Bertini, E; Burlina, Ab; Carnevale, F; Cerone, R; Dionisi Vici, C; Giordano, G; Leuzzi, E; Parenti, Giancarlo; Savasta, S; Uziel, G; Zeviani, M.
Detection of early abnormalities in the mucopolysaccharidoses by the use of visual and brainstem auditory evoked potentials 1.1 Articolo in rivista 1990 Perretti, A; Petrillo, A; Pelosi, L; Balbi, P; Parenti, Giancarlo; Riemma, A; Strisciuglio, Pietro
X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia 1.1 Articolo in rivista 1987 Andria, G; Ballabio, Andrea; Parenti, Giancarlo
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 1.1 Articolo in rivista 2006 Villani, Gr; Pontarelli, G; Kotroni, G; Parenti, Giancarlo; Sibilio, M; Andria, Generoso; DI NATALE, Paola
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 1.1 Articolo in rivista 1997 Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, Giancarlo; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, Generoso
Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report 1.1 Articolo in rivista 1993 Brisigotti, M; Fabbretti, G; Pesce, F; Gatti, R; Cohen, A; Parenti, Giancarlo; Callea, F.