PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation 1.1 Articolo in rivista 2006 Mandato, Claudia; Brive, L; Miura, Y; Davis, Ja; DI COSMO, Nicolina; Lucariello, Stefania; Pagliardini, S; Seo, Ns; Parenti, Giancarlo; Vecchione, Raffaela; Freeze, Hh; Vajro, Pietro
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.
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.
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
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
The sulfatase gene family. 1.1 Articolo in rivista 1997 Parenti, Giancarlo; Meroni, G; Ballabio, Andrea
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis 1.1 Articolo in rivista 1992 Basler, E; Grompe, M; Parenti, Giancarlo; Yates, J; Ballabio, Andrea
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 1.1 Articolo in rivista 2002 Bisanzi, S; Morrone, A; Donati, Ma; Pasquini, E; Spada, M; Strisciuglio, Pietro; Parenti, Giancarlo; Parini, R; Papadia, F; Zammarchi, E.
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun 1.1 Articolo in rivista 1990 Hu, P; Parenti, Giancarlo; Keulemans, J; Hoogeveen, At
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II 1.1 Articolo in rivista 2006 Montalvo, Al; Bembi, B; Donnarumma, M; Filocamo, M; Parenti, Giancarlo; Rossi, Massimiliano; Merlini, L; Buratti, E; DE FILIPPI, P; Dardis, A; Stroppiano, M; Ciana, G; Pittis, Mg
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases 1.1 Articolo in rivista 2007 Garnier, A; Dauger, S; Eurin, D; Parisi, I; Parenti, Giancarlo; Garel, C; Delbecque, K; Baumann, C.
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
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 1.1 Articolo in rivista 1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo