IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 226 (tempo di esecuzione: 0.019 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 1.1 Articolo in rivista 2005 Rossi, Massimiliano; Vajro, Pietro; Iorio, Raffaele; Battagliese, Antonella; BRUNETTI PIERRI, Nicola; Corso, Gaetano; Di, ; Rocco, M; Ferrari, P; Rivasi, F; Vecchione, Raffaela; Andria, Generoso; Parenti, Giancarlo
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.
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. 1.1 Articolo in rivista 2006 DI ROCCO, M; Rossi, A; Parenti, Giancarlo; Allegri, Ae; Filocamo, M; Pessagno, A; TORTORI DONATI, P; Minetti, C; Biancheri, R.
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient 1.1 Articolo in rivista 2006 Regis, S; Lualdi, S; Biffi, A; Sessa, M; Corsolini, F; Parenti, Giancarlo; Filocamo, M.
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
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
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
The sulfatase gene family 1.1 Articolo in rivista 1997 Parenti, Giancarlo; Meroni, G; Ballabio, Andrea
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.
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.
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
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
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
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
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.
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.
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.
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome 1.1 Articolo in rivista 2002 Ion, A; Tartaglia, M; Song, X; Kalidas, K; VAN DER BURGT, I; Shaw, Ac; Ming, Je; Zampino, G; Parenti, Giancarlo; Patton, Ma; Gelb, Bd; Jeffery, S.