IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 251 (tempo di esecuzione: 0.045 secondi).
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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
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) presenting with fulminant liver failure 1.5 Abstract in rivista 2004 Parenti, Giancarlo; Fecarotta, S; Vajro, P; Zuppaldi, A; Capalbo, D; Internicola, M; Correra, A; Carbone, Mt; Andria, Generoso
THERMODYNAMICS OF INTERACTION BETWEEN RECOMBINANT HUMAN LYSOSOMAL alfa-GLUCOSIDASE AND PHARMACOLOGICAL CHAPERONES 4.2 Abstract in Atti di convegno 2013 DEL VECCHIO, POMPEA GIUSEPPINA GRAZIA; I., Fotticchia; Parenti, Giancarlo; B., CORBUCCI PONZANO; Ferrara, MARIA CARMINA; Moracci, Marco
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
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia 1.5 Abstract in rivista 2008 Scala, I; Ungaro, C; Paladino, S; Nastasi, A; Zuppaldi, A; Sibilio, M; Figliuolo, C; Scarpato, E; Capaldo, B; Cardillo, G; Daniele, A; DELLA CASA, Roberto; Parenti, Giancarlo; Andria, Generoso
Chronic Diarrhea in Mucopolysaccharidosis IIIB 1.1 Articolo in rivista 2009 Sibilio, M; Miele, Erasmo; Ungaro, C; Astarita, L; Turco, R; Di Natale, P; Pontarelli, G; Vecchione, R; Andria, Generoso; Staiano, Annamaria; Parenti, Giancarlo
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
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 1.1 Articolo in rivista 2005 Perretti, A; Parenti, Giancarlo; Balbi, P; Titomanlio, L; Marcantonio, L; Iapoce, M; Frascogna, Ar; Andria, Generoso; Santoro, Lucio
Brain damage in glycogen storage disease type I 1.1 Articolo in rivista 2004 Melis, Daniela; Parenti, Giancarlo; DELLA CASA, Roberto; Sibilio, Michelina; Romano, Alfonso; DI SALLE, Francesco; Elefante, Raffaele; Mansi, Giuseppina; Santoro, Lucio; Perretti, ANNA CARMELA AGNESE; Paludetto, Roberto; Sequino, Luigi; Andria, Generoso
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 1.1 Articolo in rivista 2005 Melis, Daniela; Parenti, Giancarlo; Gatti, R; DELLA CASA, Roberto; Parini, R; Riva, E; Burlina, Ab; DIONISI VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; 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.
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
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, Mv; Tuzzi, R; Vega, Gr; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G; Parenti, Giancarlo
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
Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts 1.1 Articolo in rivista 1987 Parenti, Giancarlo; Willemsen, R; Hoogeveen, At; VERLEUN MOOYMAN, M; VAN DONGEN, Jm; Galjaard, H.