Logo of the International Congress on Porphyrins and Porphyrias 2015

International Congress on Porphyrins and Porphyrias

Sept 14th – Sept 16th 2015, Düsseldorf, Germany

Overview: Plenary Lectures, Selected Oral Presentations & Poster Presentations

Plenary Lectures

L01
New risk factors contributing to porphyria cutanea tarda
John Phillips (USA)
L02
The implications of marketing authorization for Scenesse®
Janneke Langendonk (Netherlands)
L03
Prospects for a splice modulating therapy for EPP
Laurent Gouya (France)
L04
The acute porphyrias
Eliane Sardh (Sweden)
L05
siRNA-based therapeutic strategies for the porphyrias – where are we?
Robert J. Desnick (USA)
L06
Vector-based gene therapy for the porphyrias - where are we?
Gloria González-Aseguinolaza (Spain)
L07
Towards a unifi ed drug database for the acute porphyrias
Atle Brun (Norway)
L08
The role of cellular metabolites in heme synthesis
Harry A. Dailey (USA)
L09
A paradigm shift in understanding porphyrias: prospecting for drug innovations and disease outcomes through the lens of structural biology
C.S. Raman (USA)

Oral Presentations

O01
Relapse of porphyria cutanea tarda after achieving remission: A Meta-analysis
Ashwani SINGAL, Maira RIZWAN, Karl ANDERSON
University of Alabama at Birmingham, Gastroenterology and Hepatology,Birmingham, USA
O02
Porphyria cutanea tarda following Multi-agent Chemotherapy in Children: A Report of Two Cases
Akshata MOGHE, Karl ANDERSON
Dept. of Internal Med., Pittsburgh Medical Center, Pittsburgh, USA
O03
Direct-acting antiviral agents in patients with porphyria cutanea tarda co-infected with hepatitis C virus and human immunodeficiency virus
Paula AGUILERA, Montserrat LAGUNO, Jordi TO-FIGUERAS
Dermatology, Hospital Clinic University of Barcelona, Barcelona, Spain
O04
Identifi cation of Polymorphic GNPAT as a Risk Factor for Porphyria Cutanea Tarda, PCT
Colin FARRELL, Jessica OVERBY, Charles PARKER, John PHILLIPS
University of Utah, School of Medicine, Utah, USA
O05
Update on long-term observation of afamelanotide (Scenesse®)-treatment in 146 Swiss and Italian patients with erythropoietic protoporphyria
Elisabeth MINDER, G. BIOLCATI, E. MARCHESINI, X. SCHNEIDER-YIN, F. SORGE, L. BARBIERI
APZ Porphyriesprechstunde Stadtspital Triemli, Zürich, Switzerland
O06
Variation in erythrocyte and plasma protoporphyrin levels over time in protoporphyrias
Eric GOU, M. BALWANI, D.M. BISSELL, J.R. BLOOMER, H.L. BONKOVSKY, R.J. DESNICK, H. NAIK, J. PHILLIPS, C. WENG, V.M. SADAGOPARAMANUJAM, K.E. ANDERSON, T. GREENE
Internal Medicine, University of Texas Medical Branch, USA
O07
Introducing Porphyria Light Factor (PLF): A special prediction of light intensity for EPP patients
Atle BRUN, Bjorn JOHNSEN, Borge HAMRE, T. CHRISTENSEN
Dept. of Clinical Science NAPOS, University Hospital Haukeland, Bergen, Norway
O08
Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP): Clinical, Biochemical and Molecular Characterization of North American Patients
Manisha BALWANI, H. NAIK, K.E. ANDERSON, D. M. BISSELL, J. BLOOMER, H.L. BONKOVSKY, J.D. PHILLIPS, J. OVERBEY, R.J. DESNICK
Dept. of Genetics and Genomic Sciences Icahn School of Med. at Mount Sinai, New York, USA
O09
Photo hen's egg test: Protective eff ects of β-carotene and melanin against protoporphyrin IX-induced phototoxicity
Pascal Robert BAFTEH, S. HANNEKEN, J. FRANK, N. J. NEUMANN
University of Düsseldorf, Dermatology, Zürich, Switzerland
O10
Intravenous iron therapy in XLDPP? A single family experience
Mark SONDERUP, B. DAVIDSON, A. CORRIGAL, W. SPEARMAN, P. MEISSNER
Division of Hepatology and Lennox-Eales Porphyria Laboratory, University of Cape Town and Groote Schuur Hospital
O11
Assessment of Anxiety, Depression, and Illness Perception in Patients with Erythropoietic Protoporphyria (EPP)
Hetanshi NAIK, J. OVERBEY, K. ANDERSON, D.M. BISSELL, J. BLOOMER, H. BONKOVSKY, J. PHILLIPS, R. DESNICK, M. BALWANI
Genetics and Genmics Sciences, Mount Sinai School of Medicine, New York, USA
O12
Osteoporosis in patients with erythropoietic protoporphyria
Maaike BIEWENGA, M. LANGEVELD, E. UITTERLINDEN-FRIESEMA, F. DE ROOIJ, P. WILSON, J. LANGENDONK
Dept. of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands
O13
Occurrence of malignant tumours in the acute hepatic porphyrias
Estefania LANG, Martin SCHAEFER, Norbert Josef NEUMANN, Jorge FRANK
Dermatology, Heinrich-Heine-University, Düsseldorf, Germany
O14
Primary liver cancer and other malignancies associated with acute hepatic porphyria: A Norwegian population based cohort study
Carl Michael BARAVELLI, Mette Christophersen TOLLÅNES, Jahar BHOWMIK, Sverre SANDBERG
Norwegian Porphyria Centre - NAPOS, Haukeland University Hospital
O15
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase underlies development of hepatocellular carcinoma in acute hepatic porphyrias
Jorge FRANK, J. BARMAN-AKSÖZEN, M. VAN GEEL, E. MINDER, X. SCHNEIDER-YIN
Dermatology, Heinrich-Heine-University, Düsseldorf, Germany, Institut für Labormedizin, Stadtspital Triemli, Zürich, Switzerland
O16
A second-hit somatic mutation of the heme-biosynthesis genes is suffi cient to induce hepatocellular carcinoma in acute porphyrias
Jasmin BARMAN-AKSÖZEN, Michele NYDEGGER, Elisabeth I. MINDER, Jorge FRANK, Xiaove SCHNEIDER-YIN
Institut für Labormedizin, Stadtspital Triemli, Zürich, Switzerland
O17
Preclinical Development of ALN-AS1, an Investigational RNAi Therapeutic Targeting ALAS1 for the Treatment of the Acute Hepatic Porphyrias
William QUERBES, A. CHAN, A. LIEBOW, M. YASUDA, S. BARROS, T. RACIE, M. MAIER, S. KUCHIMANCHI, D. FOSTER, S. MILSTEIN, K. CHARISSE, M. MANOHARAN, R. DESNICK, R. MEYERS, K. FITZGERALD, A. SIMON
Research ALNYLAM Pharmaceuticals, Cambridge, USA
O18
Estimates of within-subject biological variation of urinary ALA and PBG in manifest acute intermittent porphyria patients
Aasne K. AARSAND, C. BARAVELLI, J. H. VILLANGER, T. RORAAS, S. SANDBERG
Norwegian Porphyria Centre, Haukeland University Hospital, Bergen, Norway
O19
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with multiple recurring attacks
Amy 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
O20
A Randomized, Placebo Controlled, Phase 1 Study of ALN-AS1, an Investigational RNAi Therapeutic Targeting ALAS1
Eliane SARDH, P. HARPER, N. AL-TAWIL, C. PENZ, W. QUERBES, A. SIMON
Organization: Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, Department: Porphyria Centre Sweden; Karolinska Trial Alliance, Phase 1 Unit: Alnylam Pharmaceuticals, Cambridge, MA, USA
O21
Progress and prospects with the use of viral vectors for liver gene therapy in acute intermittent porphyria
Antonio FONTANELLAS, A. SAMPEDRO, R. E. DE SALAMANCA, I. SERRANO-MENDIOROZ, I. MELERO, C. UNZU
Hepatology Area, CIMA University of Navarra, Pamplona, Spain
O22
High incidence of Pathogenic Hydroxymethylbilane Synthase Non-Synonymous Variants in Genomic Databases Suggests Other Predisposing Genetic and Environmental Factors for Acute Attacks
Brenden CHEN, J. HAKENBERG, C. SOLIS-VILLA, R. SRINIVASAN, D. DOHENY, I. PETER, R. CHEN, D. BISHOP, M. YASUDA, R. DESNICK
Genetics and Genmics Sciences, Mount Sinai School of Medicine, New York, USA
O23
Porphobilinogen synthase defi ciency due to intronic mutations
Rochus NEELEMAN, J.G. LANGENDONK, W.L. VAN DE POL, B.S. VAN ASBECK, A. EDIXHOVEN, H.R. KOOLE, F.W.M. DE ROOIIJ, J.H.P. WILSON
Netherlands Porphyria Center, Erasmus MC Medical Center, Rotterdam, The Netherlands
O24
Diagnosis of acute porphyria in four HIV patients whose symptoms were precipitated by antiretroviral drugs
Joanne MARSDEN, Simon GUPPY, Penny STEIN, David REES
Kings College Hospital VIAPATH, London, England
O25
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria
Irantzu SERRANO-MENDIOROZ, A. SAMPEDRO, R. E. DE SALAMANCA, E. SARDH, P. HARPER, F. J. CORRALES, A. FONTANELLAS
Hepatology Area, CIMA University of Navarra, Pamplona, Spain
O26
Molecular and kinetic characterisation of wild type and mutant human porphobilinogen deaminase
Elaine PIENAAR, Anne CORRIGALL, Edward STURROCK, Peter N. MEISSNER
Dept. of Integrative Biomedical Sciences & IDM, UCT Medical School, Cape Town, South Africa
O27
Markers of endothelial dysfunction in patients with acute porphyrias
Paolo 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
O28
Systemic infl ammation revealed by plasma biomarkers in acute intermittent porphyria
Ole-Lars BREKKE, , E. STORJORD, A. DAHL, A. LANDSEM, H. FURE, J. LUDVIKSEN, S. GOLDBECK-WOOD, T. E. MOLINES, E. WAAGE NIELSEN
Dept. of Laboratory Med. Nordland, Bodoe, Norway
O29
Psychosocial Issues in Acute Porphyria: A Qualitative Study of the Perspectives of Patients
Hetanshi NAIK, Saskia C. SANDERSON, Manisha BALWANI, Robert J. DESNICK
Icahn School of Medicine at Mount Sinai, New York, USA
O30
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
Fondatione IRCCS Ca Granda and Universita degli Studi di Milano, Italy
O31
Non-invasive measurement of mitochondrial health in porphyria
Ashwani SINGAL, Balu CHACKO, Joseph BLOOMER, Victor DARLEYUSMAR
University of Alabama at Birmingham, Gastroenterology and Hepatology, Birmingham, USA
O32
Dental health in acute intermittent porphyria: a case control study
Elin STORJORD, S. AIRILLA-MAANSSON, K. KARLSEN, M. MADSEN, J. A. DAHL, A. LANDSEM, H. FURE, J. KREY LUDVIKSEN, E. WAAGE NIELSN, T. E. MOLLNES, O.-L. BREKKE
Dept. of Laboratory Med. Nordland, Bodoe, Norway

Poster Presentations

P01
Molecular Diagnoses of Acute Hepatic Porphyrias: Comparisons of Mutation Positive Results for Various Physician Specialties
Hetanshi NAIK, Dana DOHENY, Jessica OVERBEY, Ram SRINIVASAN, Robert J. DESNICK
Icahn School of Medicine at Mount Sinai, New York, USA
P02
Tetraplegia in acute intermittent Porphyria undergoing chronic Hemodialysis: Resolution with rehabilitation
Claudio Carmine GUIDA, Maria SAVINO, Domenico INTISO, Filippo AUCELLA
Hospital Scientifi c Institute for Research an Health Care, Foggia, Italy
P03
Photosensitization of tumour cells employing new synthetic meso-substituted porphyrin derivatives
Pablo VALLECORSA, Dario FERREYRA, Edgardo DURANTINI, Adriana CASAS
Centro de Investigaciones sobre Porfi rinas y Porfi ras CIPYP, Htal de Clinicas Gral. José de San Martin, Buenos Aires, Argentina
P04
A four year review of a porphyria genetics centre in the UK
Katharine BATES, Joanne MARSDEN, Penny STEIN, David REES
Kings College Hospital VIAPATH, London, England
P05
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
P06
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
P07
Fast Fluorometric Quantifi cation 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
P08
Frequency of common risk factors in a cohort of Porphyria Cutanea Tarda patients in North West England: comparison with the literature
Felicity STEWART, Karolina STEPIEN, Paul REED
Salford Royal NHS Foundation Trust, Salford, UK
P09
Relapse of porphyria cutanea tarda after achieving remission with phlebotomy or low dose hydroxychloroquine
Ashwani SINGAL, Eric GOU, Csilla HALLBERG, Marisol ALBUERNE, Karl ANDERSON
University of Alabama at Birmingham, Gastroenterology and Hepatology, Birmingham, USA
P10
Penetrance and heritability in Acute Intermittent Porphyria (AIP)
Hugo LENGLET,C. SCHMITT, N. KARBOUL, A.M. ROBREAU, J. C. DEYBACH, H. PUY, K. PEOCH, L. GOUYA
UMR 1149, ISERM CRI UFR, Paris, France
P11
Uncertainty of red cell protoporphyrin results in a cohort of serially monitored patients with erythropoietic protoporphyria
Felicity STEWART, Paul REED, Tim MORRIS
Clinical Biochemistry, Salford Royal NHS Foundation Trust, Salford, UK
P12
Chronic clinical fi ndings in Acute Intermittent Porphyria in Spanish population
Maria BARREDA SANCHEZ, SJ. BUENDIA, M. JOSÉ SANCHEZ SOLER, M. J. BALLESTA MARTINEZ, V. LOPEZ GONZALEZ, L. RODRIGUEZ, M. DEL CARMEN MARTINEZ ROMERO, G. GLOVER LOPEZ, E. GUILLÉNNAVARRO
Catedra de Genética y Enfermedades Raras UCAM Universidad Catolica de Murcia, Murcia, Spain
P13
ASSOCIATION STUDIES: LOW RESOLUTION HLA IN A GROUP OF PATIENTS WITH PORPHYRIA
Maria SAVINO, Giuseppe CAPPUCCI, Claudio Carmine GUIDA, Lazzaro DI MAURO
Dept. of Transfusion Med. and Analysis Lab., Scientifi c Inst. for Research and Health Care-CSS, San Giovanni Rotondo, Italy
P14
Childhood variegate Porphyria in Argentina: Other two new cases in Heterozygosis
Viviana Alicia MELITO, G. N. CERBINO, B. X. GRANATA, F. A. CABALLERO, A. BATLLE, V. E. PARERA, M. V. ROSSETTI
CONICET FCEN UBA, Buenos Aires, Argentina
P15
Gram positive bacteria photoinactivation by a new synthetic porphyrin
Leandro Ariel MAMONE, D. FERREYRA, G. DI VENOSA, P. VALLECORSA, D. SAENZ, G. CALVO, M. V. ROSETTI, A. BATLLE, F. BUZZOLA, E. DURANTINI, A. CASAS
CONICET Htal de Clinicas Gral. José de San Martin, Buenos Aires, Argenita
P16
Clinical fi ndings during pregnancy in Acute Intermittent Porphyria in Spain
Maria BARREDA SANCHEZ, M.J. SANCHEZ SOLER, J. BUENDIA, M.J. BALLESTA MARTINEZ, V. LOPEZ GONZALEZ, L. RODRIGUEZ, G. GLOVER LOPEZ, E. GUILLEN NAVARRO
Catedra de Genética y Enfermedades Raras UCAM Universidad Catolica de Murcia, Murcia, Spain
P17
Acute intermittent Porphyria in children: Still hard to diagnose, but still harder to manage
Paolo 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
P18
Light filter protection in the daily life of EPP patients
Irene DUINKER, Atle BRUN
Norwegian Porphyria Centre - NAPOS, Haukeland University Hospital, Bergen, Norway
P19
HYPERHOMOCYSTEINEMIA AND ACUTE PORPHYRIAS: A DANGEROUS METABOLIC CROSSING?
Paolo 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
P20
Routine follow-up in porphyria patients
Aashild ROSTAD ENES, A. K. AARSAND, J. H. VILLANGER, E. STOELE, C. M. BARAVELLI, S. SANDBERG
Norwegian Porphyria Centre NAPOS, Haukeland University Hosp., Bergen, Norway
P21
Molecular genetic analysis in Bulgarian patients with porphyrias
Sonya S. DRAGNEVA, Aneta V. IVANOVA, Ludmilla V. MATEVA
Gastroenterology and Hepatology UH Sveti Ivan Rilski, Sofi a, Bulgaria
P22
Successful multimodal treatment of severe PCT during dialysis in a patient withhepatitis C cirrhosis and cryoglobulinemia related vasculitis
Pauline HARPER, Ann HENNRICHSON, Boa GRONROS SÖDERHOLM, Staffan WAHLIN
Porphyria Center Sweden, Karolinska University Hospital, Stockholm, Sweden
P23
Recurrent severe acute attacks in a young woman with Variegate Porphyria; clinical signs and urinary heme precursor patterns
Daphne VASSILIOU, Ann HENRICHSON, Eliane SARDH, Pauline HARPER
Dept. of Endocrinology, Karolinska University Hospital Solna, Stockholm, Sweden
P24
Patients' experiences with porphyria cutanea tarda: A skin disease, a blood disease or something in between?
Janice ANDERSEN, Eva GJENGEDAL, Sverre SANDBERG, Maalfrid RAAHEIM
Norwegian Porphyria Centre, Haukeland University Hospital, Bergen, Norway
P25
What does a patient with erythropoetic protoporphyria really feel - a self-experiment
Ulrike URBANSKI, Sandra HANNEKEN, Viola KÜRTEN, Jorge FRANK, Norbert J. NEUMANN
Dermatology, University of Düsseldorf, Düsseldorf, Germany
P26
Novel mutation in a Slovak patient with EPP and the prevelance of a common single nucleotide polymorphism that contributes to the genetic predisposition of the disease in the Czech population
Mohamed Sameh FARRAG, Pavel MARTASEK
Pediatrics Charles University, Prague, Czech Republic
P27
Identification of potential pharmacological chaperones for the treatment of acute intermittent porphyria
Marta VORLAND, H.J. BUSTAD, K. TOSKA, C. SCHMITT, S. SIMONIN, J. UNDERHAUG, L. GOUYA, A. MARTINEZ, S. SANDBERG
Norwegian Porphyria Centre Lab of Biochemistry, Haukeland University Hospital, Bergen, Norway
P28
Neuropsychiatric symptoms during an acute porphyric attack successfully treated with heme arginate
Atle BRUN
Dept. of Clinical Science NAPOS, University Hospital Haukeland, Bergen, Norway
P29
Mutation and polymorphisms in the protoporphyrinogen oxidase gene in Jewish family with porphyria variegata
Karel MEDEK, Rivka MAMET, Pavel MARTASEK, Nili SCHOENFELD
Dept. of Pediatrics and Adolescent Med. Charles University, Prague, Czech Republic
P30
The first case of homozygous variegate porphyria in Turkey: A novel mutation in in the protoporphyrinogen oxidase gene
Ismail KURT, M. UYANIK,V. BRANCALEONI, V. FIORENTINO, M.D. CAPPELLINI
Biochemistry, Synevo Lab, Istanbul, Turkey
P31
PORPHYRIA CUTANEA TARDA AND HIV INFECTION. INFLUENCE OF MULTIDRUG RESISTANCE (MDR1) POLYMORPHISMS IN EXON 12 AND 21
Viviana MELITO, J. ZUCCOLI, M.V. ROSSETTI, V. PARERA, J. LAVANDERA, A. BATLLE, A.M. BUZALEH
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P32
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias
Eric GOU, M. BALWANI, D.M. BISSELL, J.R. BLOOMER, H.L. BONKOVSKY, R.J. DESNICK, H. NAIK, J. PHILLIPS, A. SINGAL, B. WANG, K.E. ANDERSON
Internal Medicine, University of Texas Medical Branch, USA
P33
Kinetics of 5-aminolevulinic acid in humans
J.H.P. WILSON, P. HINNEN, A. EDIXHOVEN, F.W.M. DE ROOIJ
Netherlands Porphyria Center, Erasmus MC Medical Center, Rotterdam, The Netherlands
P34
Effect of hydrogen sulfide (H2S) on 5-aminolevulinic acid - photodynamic therapy (ALA-PDT) in murine mammary adenocarcinoma cells.
Gustavo H. CALVO, G. DI VENOSA, P. VALLECORSA, L. MAMOME, A. BATTLE, A. CASAS, D. SAENZ
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P35
HOW AFFECT VOLATILE ANAESTHETICS HEME METABOLISM IN CONTROL AND DIFFERENT MODELS OF PORPHYRIA. AN UPDATE
Ana Maria BUZALEH, M.J. MORAN JIMENEZ, A. FONTANELLAS, R.E. DE SALAMANCA, A. BATLLE
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P36
NEW FAMILIES WITH DUAL PORPHYRIA: VARIEGATE PORPHYRIA / PORPHYRIA CUTANEA TARDA
Maria Victoria ROSSETTI, G.N.CERBINO, N.M. MEDINA, B.X. GRANATA, V.A. MELITO, A. BATLLE, V.E. PARERA
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P37
Odd cases of heteroallelic compound heterozigocity in Acute Intermittent Porphyria in Argentina
Victoria Estela PARERA, G.N. CERBINO, L.S. VARELA, M.N. GUOLO, A. BATLLE, M.V. ROSSETTI
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P38
The action of Isofl urane and Sevofl urane on some hemeproteins in a murine genetic model of Acute Intermittent Porphyria. Evaluation of hepatic damage and the instauration of oxidative stress.
A. M. BUZALEH, S. F. RUSPINI, J. R. ZUCCOLI, J. V. LAVANDERA, A. BATTLE
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P39
EFFECTS OF PORPHYRINOGENIC AGENTS ON MITOCHONDRIAL RESPIRATORY CHAIN COMPLEXES
A. M. BUZALEH, J. ZUCCOLIi, S. RUSPINI, A. BATLLE
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P40
Porphyrin photosensitization and Reactive Oxygen Species scavengers protection
Alcira BATLLE, Maria Juliete TEIJO, Haydee FUKUDA
CIPYP, CONCINET, Universitdad de Buenos Aires, Argentina
P41
Results of a Pilot Study of Isoniazid in Patients with Erythropoietic Protoporphyria
John PHILLIPS, R. DESNICK, M. BISSELL, J. BLOOMER, K. ANDERSON, H. PUY, C. PARKER
University of Utah, School of Medicine, Hematology, Salt Lake City, USA
P42
Erythropoietic Protoporphyria: Investigation and Evaluation of Potential Pathogenicity of Ferrochelatase Mutations in Genomic Databases
Wanqiong QIAO, M. BALWANI, R. SRINIVASAN, M. YASUDA, R. DESNICK
Dept. of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA
P43
Acute Intermittent Porphyria in Germany: Interim Analysis of 45 patients from a single institution (Munich)
Olivia BRONISCH, T. STAUCH, T. HAVERKAMP, M. BEYKIRCH, P.E. PETRIDES
Porphyria Center, Hematology Oncology Center Munich, Munich, Germany
P44
ACUTE INTERMITTENT PORPHYRIA IN A PRE-PUBERTAL BOY PRESENTING WITH ACUTE ABDOMINAL PAIN
Preeti SINGH, Manisha BALWANI, D. DOHENY, M. YASUDA, R.J. DESNICK
Pediatrics, Kalawati Sarn Childrens Hosp. and Lady Hardinge Medical College
P45
ALAS1 Variants In Patients With Overt versus Presymptomatic Acute Intermittent Porphyria
Sharon D. Whatley, Danja Schulenberg-Brand, Michael N. Badminton
University Hospital of Wales, Medical Genetics, Cardiff , Wales, UK

Scientific Committee International Congress Porphyrins & Porphyrias 2015

Aasne Aarsand, Bergen, Norway
Mike Badminton, Cardiff , Wales
Jean-Charles Deybach, Paris, France
Jorge Frank, Düsseldorf, Germany
Pauline Harper, Stockholm, Sweden
Janneke Langendonk, Rotterdam, Netherlands
Peter Meissner, Cape Town, South Africa
Norbert J. Neumann, Düsseldorf, Germany
John D. Phillips, Salt Lake City, USA,
Sverre Sandberg, Bergen, Norway
Eliane Sardh, Stockholm, Sweden
J.H. Paul Wilson, Rotterdam, Netherlands
Caroline Schmitt, Paris, France