Partecipazione a Congressi

 

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