Partecipazione a Congressi
The International Liver Congress – EASL
Vienna, 10-14 Aprile 2019
Presentazioni Orali
ENVISION, a Phase 3 Study to Evaluate the Efficacy and Safety of Givosiran, an Investigational RNAi Therapeutic Targeting Aminolevulinic Acid Synthase 1, in Acute Hepatic Porphyria Patients
Balwani M, Gouya L, Rees DC, Stein P, Stölzel U, Aguilera Peiro P, Bissell DM, Bonkovsky HL, Keel S, Parker C, Phillips JD, Silver S, Windyga J, D’Avola D, Ross G, Stewart P, Ritchie B, Oh J, Harper P, Wang JD, Langendonk JG, Ivanova A, Horie, Y, Anderson KE, Ventura P, Chan A, Penz C, Simon A, Kim J, Dinh Q, Liu G, Garg P, Vaishnaw A, and Sardh E
Posters
Management of Recurrent Acute Hepatic Porphyria (AHP) Attacks in Europe and the United States:
EXPLORE International, Prospective, Natural History Study
Sardh E, Balwani M, Gouya L, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder E, Windyga J, Martasek P, Cappellini M, Ventura P, Harper P, Sandberg S, Aarsand AK, Alegre F, Ivanova A, Talbi N, Ko JJ, Cahana-Amitay D, Chan A, Dinh Q, Penz C, Simon A, Lin T, Anderson KE
Disease Manifestations of Patients with Recurrent Acute Hepatic Porphyria (AHP) and Daily Life Impacts
in EXPLORE International, Prospective, Natural History Study
Ventura P, Gouya L, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder E, Windyga J, Martasek P, Cappellini M, Sardh E, Harper P, Sandberg S, Aarsand AK, Alegre F, Ivanova A, Talbi N, Ko JJ, Cahana-Amitay D, Chan A, Dinh Q, Penz C, Simon A, Lin T, Anderson KE
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3rd Italian EPP Expert Meeting
Firenze – 5 Aprile 2019
Presentazioni Orali
La Protoporfiria Eritropoietica in Italia: Dati Epidemiologici
Dott. Paolo Ventura
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119° Congresso Nazionale Società Italiana Di Medicina Interna
Roma – 26-28 Ottobre 2018
Presentazioni Orali
The Porphyrias In Italy: The First Epidemiological Report – From Gruppo Italiano Porfiria (Grip) Registry
P. Ventura, M. Cappellini, A. Macrì, C. Guida, A. Nicolli, , M. Rossi, E. Di Pierro, V. Brancaleoni, F. Granata, V. Fiorentino, S. Fustinoni, R. Sala, P.G Calzavara-Pinton, A. Trevisan, S. Marchini, C. Cuoghi, M. Marcacci, A. Pietrangelo, F. Sorge, C. Aurizi, M.G. Savino (Gruppo Italiano Porfiria)
Porfirie: Come Riconoscerle e Trattarle
Dott. Matteo Marcacci
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Riunione Progetto Porfiria – Società Italiana Di Medicina Interna
Roma – 12-13 Giugno 2018
Presentazioni Orali
Le Porfirie: Aspetti Generali, Epidemiologia e Focus sulle Porfirie Acute
Dott. Paolo Ventura
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Incontro con i Porfirici del Veneto
Padova – 14 Aprile 2018
Presentazione del Gruppo Italiano Porfiria (GrIP)
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Incontro di Aggiornamento ECM – Il Pronto Soccorso e le Malattie Rare
Firenze – 4 Dicembre 2017
Presentazioni Orali
Attacco Porfirico Acuto: Fisiopatologia, Diagnosi e Terapia
Dott. Paolo Ventura
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118° Congresso Nazionale Società Italiana Di Medicina Interna
Roma – 27-29 Ottobre 2017
Presentazioni Orali
Poor Vitamin Status In Patients With Symptomatic Acute Porphyrias: A Reliable Target For Treatment Of Symptomatic Patients ?
Ventura P, Marcacci M, Marchini S, Cuoghi C, Vaccari D, Pietrangelo A
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XVIII congresso nazionale Società Italiana Genetica Umana – SIGU
Rimini, 21-24 ottobre 2015
Posters
Molecular Characterisation of Erythropoietic Protoporphyria in Northern Italy
Brancaleoni V., Granata F., Fiorentino V., Graziadei G., Di Pierro E
Phenotype Variability of Congenital Erythropoietic Porphyria in Turkey
Granata F., Uyanik M., Sertoglu E., Tapan S., Kurt I., Brancaleoni V., Di Pierro E
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International Congress On Porphyrins And Porphyrias
Sept 14th – Sept 16th 2015, Düsseldorf, Germany
Presentazioni Orali
Characterisation of the functional role of variants within the regulatory regions of UROD and CPOX genes
V. Fiorentino, V. Brancaleoni, F. Granata, G. Graziadei, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda and Università degli Studi di Milano, Italy
Markers of endothelial dysfunction in patients with acute porphyrias
P. Ventura, M. Marcacci, C. Cuoghi, S. Marchini, E. Di Pierro, V. Brancaleoni, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with multiple recurring attacks
A. Simon, K. Anderson, J. Bloomer, M. Balwani, M. Bissell, D. Rees, U. Stolzel, J. Phillips, R. Kauppinen, J. Langendonk, P. Ventura, E. Minder, P. Stein, C. Parker, R. Desnick, A. Chan, B. Bettencourt, W. Querbes, C. Penz
Clinical Alnylam Pharmaceuticals, Cambridge, USA
Posters
Tetraplegia in acute intermittent Porphyria undergoing chronic Hemodialysis: Resolution with rehabilitation
C. C. Guida, M. Savino, D. Intiso, F. Aucella
Hospital Scientifi c Institute for Research an Health Care, Foggia, Italy
Molecular Characterisation of Erytropoietic Protoporphyria in Northern Italy
V. Brancaleoni, F. Granata, V. Fiorentino, G. Graziadei, D. Spinelli, S. Fustinoni, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda and Universita degli Studi di Milano, Milano, Italy
Phenotype Variability of Congenital Erythropoietic Porphyria in Turkey
V. Brancaleoni, M. Uyanik, E. Sertoglu, S. Tapan, I. Kurt, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda, Milano, Italy and Corlu Military Hospital Tekirdag, Turkey
Fast Fluorometric Quantification of Protoporphyrin IX in Plasma
F. Granata, D. Tavazzi, P. Missineo, S. Fustinoni, D. Spinelli, Md. Cappellini, E. Di Pierro
Fondatione IRCCS Ca Granda and Universita degli Studi di Milano, Italy
Association Studies: Low Resolution HLA in a Group of Patients with Porphyria
M. Savino, G. Cappucci, C. C. Guida, L. Di Mauro
Dept. of Transfusion Med. and Analysis Lab., Scientifi c Inst. for Research and Health Care-CSS, San Giovanni Rotondo, Italy
Acute intermittent Porphyria in children: Still hard to diagnose, but still harder to manage
P. Ventura, C. Rosafio, S. Marchini, A. Guerra, F. Granata, E. Di Pierro, L. Lughetti, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
Hyperhomocysteinemia and Acute Porphyrias: A Dangerous Metabolic Crossing?
P. Ventura, M. Marcacci, C. Cuoghi, S. Marchini, E Di Pierro, M. Rimini, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy