IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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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
Management and treatment of glycogenosis type 2 1.1 Articolo in rivista 2008 B., Bembi; E., Cerini; C., Danesino; M. A., Donati; S., Gasperini; L., Morandi; O., Musumeci; Parenti, Giancarlo; S., Ravaglia; F., Seidita; A., Toscano; A., Vianello
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 1.1 Articolo in rivista 2004 Cosma, Mp; Pepe, S; Parenti, Giancarlo; Settembre, Carmine; Annunziata, I; WADE MARTINS, R; Di, ; Domenico, C; DI NATALE, P; Mankad, A; Cox, B; Uziel, G; Mancini, Gm; Zammarchi, E; Donati, Ma; Kleijer, Wj; Filocamo, M; Carrozzo, R; Carella, M; Ballabio, Andrea
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. 1.1 Articolo in rivista 1987 Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso
The sulfatase gene family 1.1 Articolo in rivista 1997 Parenti, Giancarlo; Meroni, G; Ballabio, Andrea
Evidence of polyglandular involvement in Niemann-Pick disease type B 1.1 Articolo in rivista 1987 Strisciuglio, Pietro; DI MAIO, S; Parenti, Giancarlo; Franzese, Adriana; Lubrano, P; Mariano, A; Andria, G.
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
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, G; Parenti, Giancarlo
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 1.1 Articolo in rivista 1995 Parenti, Giancarlo; Sebastio, G; Strisciuglio, Pietro; Incerti, B; Pecoraro, C; Terracciano, L; Andria, G.
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, Giancarlo; Ballabio, Andrea
Molecular heterogeneity of STS deficiency. A multicenter study on 57 unrelated patients at DNA and protein levels 1.1 Articolo in rivista 1989 Ballabio, Andrea; Carrozzo, R; Parenti, Giancarlo; Gil, A; Zollo, Massimo; Persico, G; Gillard, E; Affara, N; Fergusonsmith, Ma; Gal, A; Herrmann, F; Frants, Rr; Eriksson, Aw; Andria, G.
Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship 1.1 Articolo in rivista 1986 Strisciuglio, Pietro; Ballabio, Andrea; Parenti, Giancarlo
The presence of a reduced amount of 32 kDa "protective" protein is a distinct biochemical finding in late infantile galactosialidosis 1.1 Articolo in rivista 1988 Strisciuglio, Pietro; Parenti, Giancarlo; Giudice, C; Lijoi, S; Hoogeveen, At; D'Azzo, A.
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of D7-sterol reductase in Italy and report of three novel mutations 1.1 Articolo in rivista 1999 DE BRASI, D; Esposito, T; Rossi, M; Parenti, Giancarlo; Sperandeo, Mp; Zuppaldi, A; Bardaro, T; Ambruzzi, Ma; Zelante, L; Ciccodicola, A; Sebastio, G; D\'Urso, M. ANDRIA G.
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. 1.1 Articolo in rivista 2002 Corso, G; Rossi, M; DE BRASI, D; Rossi, I; Parenti, Giancarlo; DELLO RUSSO, A.
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 1.1 Articolo in rivista 1986 Ballabio, Andrea; Parenti, Giancarlo; Tippett, P; Mondello, C; DI MAIO, S; Tenore, A; Andria, Generoso
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
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
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 1.1 Articolo in rivista 2004 Santamaria, Francesca; Brancaccio, G; Parenti, Giancarlo; Francalanci, P; Squitieri, C; Sebastio, Gianfranco; DIONISI VICI, C; D'Argenio, P; Andria, Generoso; Parisi, F.
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.