UniSa - IRIS Institutional Research Information System

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Titolo Data di pubblicazione Autore(i) File
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 1-gen-1998 Vajro, Pietro; Manguso, F.; Silvestre, C.; Brancato, T.; Desilva, C.; Melis, D.
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 1-gen-1998 Vajro, Pietro; Fontanella, A.; Melis, D.; Cecere, G.; Brancato, T.; Spaziano, Mt
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 1-gen-1998 Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G.
Unbalanced translocation with partial 6p trisomy and partial 11q monosomy: A case report 1-gen-1998 Sabbatino, M. S.; Melis, D.; Della, Casa; R., D'Agostino; A., Cascioli; M. C., Parenti
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 1-gen-1999 Galli 1, L; Orrico, A; Marcolongo, P; Fulceri, R; Burchell, A; Melis, D; Parini, R; Gatti, R; Lam, C; Benedetti, A; Sorrentino, V
Genetic testing of metabolic disorders 1-gen-2000 Andria, G.; Parenti, G.; Melis, D.; Sebastio, G.
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 1-gen-2002 Gepke Visser Æ Jan Peter Rake Æ Philippe Labrune James V. Leonard Æ Shimon Moses Æ Kurt Ullrich Udo Wendel Æ Klaas H. Groenier Æ G. Peter A., Smit; W, Endres; D, Skladal; E, Sokal; J, Zeman; P, Labrune; P Bu¨, Hrdel; K, Ullrich; G Da¨, Ublin; U, Wendel; Jvleonard, ; P, Lee; G, Mieli-Vergani; P, Gandullia; R, Gatti; Mdi, Rocco; G, Andria; Melis, D; S, Moses; E, Pronicka; Dr, N Kocak; Dr, H O¨ zen
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI) 1-gen-2002 Rake, Jp; Visser, G; Labrune, ; Leonard, ; Ullrich, ; Smit, Gpa; Skladal, D; Endres, W; Sokal, E; Zeman, J; Labrune, Ph; Buhrdel, P; Ullrich, K; Wendel, U; Lee, P; Leonard, Jv; Szonyi, L; Gandullia, P; M di, Rocco; R, Gatti; Melis, D; G, Andria; S, Moses; J, Taybert; E, Pronincka; H, Ozen; A, Kocak
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 1-gen-2002 Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A., Smit; ESGSD I., Members ofthe ESGSD I are: Austria (W Endres; D, Skladal; Innsbruck), ; Belgium (E, Sokal; Brussels), ; Czech Republic (J, Zeman; Prague), ; France (P, Labrune; Clamart), ; Germany (P Bu¨, Hrdel; Leipzig, ; K Ullrich, ; Hamburg, ; G Da¨, Ublin; U, Wendel; Du¨, sseldorf); Great Britain (P, Lee; Jv, Leonard; G, Mieli-Vergani; London), ; Hungary (L Szo¨, Nyi; Budapest), ; Italy (P, Gandullia; R, Gatti; M di, Rocco; Genoa, ; Melis, D; G, Andria; Naples), ; Israel (S, Moses; Beersheva), ; Poland (J, Taybert; E, Pronicka; Warsaw), ; The Netherlands, (JP Rake; Gpa, Smit; G, Visser; Groningen), ; Turkey (H O¨, Zen; N Kocak, ; Ankara),
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 1-gen-2002 Lucchiari, S; Donati, Ma; Parini, R; Melis, D; Gatti, R; Bresolin, N; Scarlato, G; Comi, Gp.
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 1-gen-2002 Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 1-gen-2003 Grazia, Capuano; Parenti, G.; Mandato, Claudia; Lucariello, S.; Ciccimarra, E.; Melis, Daniela; Esposito, G.; Salvatore, F.; Andria, G.; Vajro, Pietro
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs 1-gen-2003 Melis, D; Parenti, G; Della Casa, R; Sibilio, M; Berni Canani, R; Terrin, G; Cucchiara, S; Andria, G
Brain damage in glycogen storage disease type I. 1-gen-2004 Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio
Mutational analysis of the AGL gene: five novel mutations in GSD III patients 1-gen-2004 Lucchiari, S; Donati, Ma; Melis, D; Filocamo, M; Parini, R; Bresolin, N; Comi, Gp.
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 1-gen-2004 Melis, D; Havelaar, Ac; Verbeek, E; Smit, Gp; Benedetti, A; Mancini, Gm; Verheijen F,
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 1-gen-2005 Melis, D; Parenti, G; Gatti, R; DELLA CASA, R.; Parini, R; Riva, E; Burlina, Ab; DIONISI-VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, G
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 1-gen-2006 Melis, D; Pia Sperandeo, M; Perone, L; Staiano, A; Andria, G; Sebastio, G
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL 1-gen-2006 Lucchiari, S; Pagliarani, S; Salani, S; Filocamo, M; Di Rocco, M; Melis, D; Rodolico, C; Musumeci, O; Toscano, A; Bresolin, N; Comi, Gp
WAGR syndrome: importance of diagnosis and follow-up 1-gen-2007 Vm, Ginocchio; D De, Brasi; Melis, D; A, D’Agostino; R Della, Casa
Mostrati risultati da 1 a 20 di 142
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