IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 251 (tempo di esecuzione: 0.046 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
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
Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation. 1.5 Abstract in rivista 2002 Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; 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
Lathosterolosis, a novel defect of cholesterol biosynthesis in humans associated with multiple congenital malformations and mental retardation. 1.5 Abstract in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Annunziata, I; Battagliese, A; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, G; Parenti, G.
The GH-IGF axis in glycogen storage disease type 1 (GSD1): evidence of different growth patterns and IGF levels in patients with GSD1A and GSD1B 1.5 Abstract in rivista 2008 Melis, D; Pivonello, R; Parenti, Giancarlo; Gaudieri, V; DELLA CASA, Roberto; Salerno, Mariacarolina; D'Elia, F; Piccolo, P; Lombardi, G; Colao, A; 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
Oligosaccharidoses and related disorders 2.1 Contributo in volume (Capitolo o Saggio) 2003 Andria, Generoso; Parenti, Giancarlo
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials. 1.1 Articolo in rivista 1998 Toscano, E; Perretti, A; Balbi, P; Silvestro, E; Andria, Generoso; Parenti, Giancarlo
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.
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
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study 1.1 Articolo in rivista 2009 Tessa, A; Fiermonte, G; Dionisi Vici, C; Paradies, E; Baumgartner, Mr; Chien, Yh; Loguercio, C; de Baulny, Ho; Nassogne, Mc; Schiff, M; Deodato, F; Parenti, Giancarlo; Rutledge, Sl; Vilaseca, Ma; Melone, Ma; Scarano, G; Aldamiz Echevarría, L; Besley, G; Walter, J; Martinez Hernandez, E; Hernandez, Jm; Pierri, Cl; Palmieri, F; Santorelli, Fm
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.
Inborn error of metabolism 2.1 Contributo in volume (Capitolo o Saggio) 2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
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
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease 1.1 Articolo in rivista 2008 Pittis, M. G.; Donnarumma, M.; Montalvo, A. L.; Dominissini, S.; Kroos, M.; Rosano, C.; Strppiano, M.; Bianco, M. G.; Donati, M. A.; Parenti, Giancarlo; D'Amico, A.; Ciana, G.; DI ROCCO, M.; Reuser, A.; Bembi, B.; Filocamo, M.
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.