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2003 Congress Abstracts

Abstracts 2003

5-AMINOLEVULINATE SYNTHASE: MODULATION OF THE COFACTOR CHEMISTRY BY THE PROTEIN SCAFFOLD

Ferreira G.C.

University of South Florida, College of Medicine, Tampa, FL, USA

A HIGHLY SENSITIVE AND SPECIFIC METHOD FOR THE MEASUREMENT OF THE I AND III ISOMERS OF PORPHYRINS IN PLASMA

Erlandsen E.J., Markussen S., Brock A.

Dept of Clinical Biochemistry, Viborg Hospital, Viborg, Denmark

A NEW VARIANT OF ERYTHROPOIETIC PROTOPORPHYRIA WITH NORMAL FERROCHELATASE ACTIVITY

Wilson J.H.P., Edixhoven-Bosdijk A., Koole-Lesuis R., Kroos M.J., de Rooij F.W.M.

 

Dept. of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

 

A NOVEL MUTATION IN THE FERROCHELATASE GENE AMONG FINNISH EPP PATIENTS

Timonen K1, Veikkolainen V2, Kauppinen R2

1Dept of Dermatology, 2Dept of Medicine, University of Helsinki, Biomedicum-Helsinki, Finland

ACQUIRED PORPHYRIA CUTANEA TARDA PROBABLY RELATED TO ANTINEOPLASTIC THERAPY IN A PATIENT AFFECTED BY CHRONIC MYELOID LEUKAEMIA

Barbieri L, Griso D, Sorge F, Usai G, Macri A, Biolcati G

Porphyrias Center, S. Gallicano Institute, IRCCS, Rome, Italy

ACUTE HEPATIC PORPHYRIAS WITHOUT DETECTABLE GENETIC DEFECTS

Stauch T.1, Renz M1., Seelig H. P1, Doss M.O.2

1Laboratory Prof. Seelig and Colleagues, Karlsruhe, 2Clinical Biochemistry, Consultation Porphyria, Philipps University, Marburg, Germany

ACUTE INTERMITTENT PORPHYRIA (A.I.P): A MULTIDISCIPLINARY APPROACH

Guida Cc1, Pileri M2, Garrubba M2, Potenza A3, Caravella M4, Stallone C1

Departments of 1Nephro-Urology, 2Clinical Pathology, and 3Dietology, "Casa Sollievo Sofferenza" Hospital, Scientific Research Institute, San Giovanni Rotondo (Foggia) and 4Mental Health Department, Local Health Service FG3, Foggia, Italy

ACUTE INTERMITTENT PORPHYRIA IN CATALONIA (SPAIN)

Herrero C, To-Figueras J, Ingelmo M, Oliva R, Munoz C, Munoz E, Carreras C

Hospital Clinic i Provincial, Barcelona, Spain

ACUTE PORPHYRIA - BUT WHICH ONE?

Pusztai Á1, Bor M1, Székely E1, Balogh K2, Berkes E2, Hunyady L2, Tasnádi Gy1

1Hungarian Porphyria Center, Central Hospital of the Hungarian State Railways, 2Department of Physiology, Semmelweis University, Faculty of Medicine, Budapest, Hungary

ALTERATIONS OF PORPHYRIN METABOLISM IN MICE BY GRISEOFULVIN

Laftah A, Simpson Rj, Deacon A, Peters Tj

Department of Clinical Biochemistry, King's College, London, UK

AN AIP FAMILY WITH NO HMBS SEQUENCE VARIANT

Skadberg O1, Espetvedt L2, Boman H2, Sandberg S1

1Norwegian Porphyria Centre, Laboratory of Clinical Biochemistry, 2Norwegian Porphyria Centre, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

AN ALTERNATIVELY-SPLICED 5'UNTRANSLATED EXON IN HUMAN ALAS1 INHIBITS TRANSLATION AND HAEM-REGULATED mRNA DESTABILISATION

Roberts AG, Llewellyn DH

Dept of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK

ASSOCIATION BETWEEN THALASSEMIA MAJOR AND PORPHYRIA CUTANEA TARDA TYPE I

Cianciulli P1, Barbieri L2, Macri A2, Griso D2, Sorrentino F1, Sorge F2, Gerolamo U2, Biolcati G2

1Centro Microcitemie, Ospedale S. Eugenio, 2Porphyrias Center, S. Gallicano Institute, IRCCS, Rome, Italy

BEING PREPARED, BUT PREPARED FOR WHAT?" A QUALITATIVE STUDY ON THE EXPERIENCE OF GENETIC COUNSELLING AND LIVING WITH A PREDISPOSITION FOR ACUTE INTERMITTENT PORPHYRIA

Tonder S.L1, Raaheim M2, Skadberg O1, Sandberg S1

1The Norwegian Porphyria Centre, Laboratory of Clinical Biochemistry, Haukeland University Hospital, 2Section for Physiotherapy Science, Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway

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