Categories Articles Porphyria and Porphirins Abstracts Post author By porphyria-europe Search Results Check all Abstracts Selected Titles DIFFERENTIATION BETWEEN SPORADIC AND FAMILIAL PORPHYRIA CUTANEA TARDA – (volume 52-2003) Aarsand AK1, Brun A1, Boman H2, Sandberg S1 WITHIN-SUBJECT BIOLOGICAL VARIATION OF THE URINARY EXCRETION OF ALA, PBG AND PORPHYRINS IN ACUTE INTERMITTENT PORPHYRIA – (volume 52-2003) Aarsand AK1, Petersen PH2, Sandberg S1 TIN MESOPORPHYRIN POTENTIATION OF HEME THERAPY: A DOSE-RANGING STUDY IN ASYMPTOMATIC PORPHYRIA – (volume 52-2003) Anderson KE, Kormos-Hallberg C MYELOPROLIFERATIVE DISEASE COMPLICATED BY LATE-ONSET ERYTHROPOIETIC PROTOPORPHYRIA AND LIVER DISEASE – (volume 52-2003) Badminton MN1, Whatley SD1, Goodwin RG2, Kell J3, Laidler P4, Long CC2, Burnett AK3, Elder GH1 ACQUIRED PORPHYRIA CUTANEA TARDA PROBABLY RELATED TO ANTINEOPLASTIC THERAPY IN A PATIENT AFFECTED BY CHRONIC MYELOID LEUKAEMIA – (volume 52-2003) Barbieri L, Griso D, Sorge F, Usai G, Macri A, Biolcati G MISCARRIAGE DUE TO RECURRENT ACUTE PORPHYRIC ATTACKS DURING PREGNANCY IN A PATIENT WITH ACUTE INTERMITTENT PORPHYRIA – (volume 52-2003) Bartz C1, Poblete-Gutiérrez P2, Kunitz O3, Wiederholt T2, Merk Hf4, Rath W1, Frank J5 FUNCTIONALIZED CALIX[4]PHYRINS: EFFICIENT ACCESS TO UNEXPECTED PORPHOMONO- AND PORPHODIMETHENES – (volume 52-2003) Bernátková M1,2, Andrioletti B1, Rose E1, Král V2 HOMOZYGOUS VARIEGATE PORPHYRIA. FIRST ITALIAN CASE – LONG TERM FOLLOW UP – IDENTIFICATION OF NOVEL MUTATIONS IN PPOX GENE – (volume 52-2003) Bonuglia M, D’amato M, Sorge F, Griso D, Macri A, Biolcati G GENETIC SCREENING OF ACUTE INTERMITTENT PORPHYRIA IN HUNGARY: AN UPDATE – (volume 52-2003) Bor M1, Balogh K2, Berkes E2, Székely E1, Pusztai Á1, Tasnádi Gy1, Hunyady L2 THE NORDIC DRUG DATABASE FOR ACUTE PORPHYRIA – (volume 52-2003) Brun A1, Pomp E1, Thunell S2 NON-PORPHYRIC SKIN DISEASE IN THE PORPHYRIAS – (volume 52-2003) White J, Creamer D, Peters TJ IDENTIFICATION OF A RECURRENT MUTATION IN THE PORPHOBILINOGEN DEAMINASE GENE IN GERMAN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA – (volume 52-2003) Wiederholt T1, Poblete Gutiérrez P1, Gardlo K2, Bolsen K2, Merk HF3, Frank J4 A NEW VARIANT OF ERYTHROPOIETIC PROTOPORPHYRIA WITH NORMAL FERROCHELATASE ACTIVITY – (volume 52-2003) Wilson J.H.P., Edixhoven-Bosdijk A., Koole-Lesuis R., Kroos M.J., de Rooij F.W.M. NEUROPSYCHIATRIC PORPHYRIA IN PATIENTS WITH REFRACTORY EPILEPSY: REPORT OF THREE CASES – (volume 52-2003) Winkler AS1, Peters TJ2, Elwes RDC1 ERYTHROCYTE AND LIVER PORPHOBILINOGEN DEAMINASE ACTIVITY IN CIRRHOSIS AND CLINICAL OR EXPERIMENTAL CHOLESTASIS – (volume 52-2003) Yalouris A, Manganas D, Yannakos G, Triantafyllou G, Danias P, Kantartzis K, Raptis S MODIFICATION OF GRISEOFULVIN-INDUCED PORPHYRIA BY THE DEVELOPMENT OF EXPERIMENTAL DIABETES MELLITUS – (volume 52-2003) Yalouris A1, Grigoriadou M2, Marakomichelakis G2, Diamantopoulos E2, Raptis S1 EFFECTS OF ISOFLURANE ON HEME SYNTHESIS IN A MOUSE MODEL FOR ERYTHROPOIETIC PORPHYRIA – (volume 52-2003) Buzaleh A.M.1, Navarro S.2, García-Bravo M.2, Morán-Jiménez M.J.2, Batlle A.1, Enriquez De Salamanca R.2, Fontanellas A.2 PORPHYRINS STATUS IN SPONTANEOUSLY HYPERTENSIVE RATS – (volume 52-2003) Caballero F.A., Guolo M.N., Batlle A IN VITRO AND IN VIVO USE OF ALA DERIVATIVES TO OPTIMISE PHOTODYNAMIC THERAPY – (volume 52-2003) Casas A.G.1, Perotti C1, Di Venosa G.1, Fukuda H.1, Sacca P.1, Macrobert A.2, Batlle A.1 URINARY STEROID HORMONE METABOLITES IN PATIENTS WITH PORPHYRIAS – (volume 52-2003) Christakoudi S, Taylor Nf, Deacon Ac, Peters Tj ASSOCIATION BETWEEN THALASSEMIA MAJOR AND PORPHYRIA CUTANEA TARDA TYPE I – (volume 52-2003) Cianciulli P1, Barbieri L2, Macri A2, Griso D2, Sorrentino F1, Sorge F2, Gerolamo U2, Biolcati G2 GENETIC ANALYSIS OF VARIEGATE PORPHYRIA IN ITALY: IDENTIFICATION OF EIGHT NOVEL MUTATIONS IN THE PROTOPORPHYRINOGEN OXIDASE GENE – (volume 52-2003) D’amato M, Bonuglia M, Barile S, Griso D, Macri A, Sorge F, Biolcati G EXAMINATION OF THE ACTIVE SITE OF HUMAN FERROCHELATASE – (volume 52-2003) Dailey H.A., Wu C.-K., Horanyi P., Missaoui W. VISUALISATION OF PROTOPORPHYRINOGEN OXIDASE MITOCHONDRIAL TARGETING USING GREEN FLUORESCENT PROTEIN – (volume 52-2003) Davids L.M., Corrigall A.V., Meissner P.N. GENOTYPE-PHENOTYPE RELATIONSHIPS IN FAMILIES WITH ERYTHROPOIETIC PROTOPORPHYRIA – (volume 52-2003) De Rooij F.W.M., Koole-Lesuis R., Edixhoven-Bosdijk A., Kwaspen F.A.M., Van Den Bosch J.B., Kroos M., Wilson J.H.P. GENE TRANSFER INTO HUMAN HEMATOPOIETIC STEM CELLS. APPLICATION TO THE GENE THERAPY OF CONGENITAL ERYTHROPOIETIC PORPHYRIA – (volume 52-2003) de Verneuil H , Geronimi F, Robert E, Vernhet I, Ged C, Richard E, Moreau-Gaudry F EUROPEAN PORPHYRIA INITIATIVE (EPI) – (volume 52-2003) J.C. Deybach1, M. Badminton2, G. Elder2, J. Frank3, P. Martásek4, E. Minder5, S. Parker6, H. Puy1, S. Sandberg7 TWO NOVEL MOLECULAR DEFECTS IN FERROCHELATASE GENE IN ITALIAN PATIENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA – (volume 52-2003) Di Pierro E., Moriondo V., Deponti D., Fiorelli G., Cappellini M.D. COINHERITANCE OF A MUTATION IN PPOX GENE AND AN INTRONIC MUTATION IN HMBS GENE CAUSES A SEVERE PORPHYRIA’S PHENOTYPE – (volume 52-2003) Di Pierro E., Roselli E., Patti E., Danielli G., Cappellini M.D. THE THIRD CASE OF DOSS PORPHYRIA IN GERMANY – (volume 52-2003) Doss M.O.1, Stauch T.2, Groß U.3, Renz M.2, Akagi R.4, Doss-Frank M.1, Seelig H.P.2, Sassa S.4 RESIDUAL ACTIVITY OF HUMAN PORPHOBILINOGEN DEAMINASE WITH R167Q OR R167W MUTATIONS: AN EXPLANATION FOR SURVIVAL OF HOMOZYGOUS AND COMPOUND HETEROZYGOUS ACUTE INTERMITTENT PORPHYRICS – (volume 52-2003) Edixhoven-Bosdijk A., De Rooij F.W.M., Baars-Heesakkers E., Wilson J.H.P. A HIGHLY SENSITIVE AND SPECIFIC METHOD FOR THE MEASUREMENT OF THE I AND III ISOMERS OF PORPHYRINS IN PLASMA – (volume 52-2003) Erlandsen E.J., Markussen S., Brock A. 5-AMINOLEVULINATE SYNTHASE: MODULATION OF THE COFACTOR CHEMISTRY BY THE PROTEIN SCAFFOLD – (volume 52-2003) Ferreira G.C. NOVEL MUTATION IN PORPHOBILINOGEN DEAMINASE GENE IN A FAMILY WITH ACUTE INTERMITTENT PORPHYRIA FROM NEPAL – (volume 52-2003) Flachsová E.1, Verma I.C.2, Zeman J.1, Raman C.S.3, Martásek P.1 INVENTORY OF MUTATIONS CAUSING PORPHYRIA IN SWEDEN – (volume 52-2003) Floderus Y., Wiman A., Harper P. PORPHYRIA CUTANEA TARDA AND HAEMOCHROMATOSIS – (volume 52-2003) Garaczi E., Kószó F., Oláh J., Morvay M., Dobozy A. SUCCESSFUL AND SAFE TREATMENT OF HYPERTRICHOSIS BY HIGH-INTENSITY PULSES OF NON-COHERENT LIGHT IN A PATIENT WITH HEPATOERYTHROPOIETIC PORPHYRIA – (volume 52-2003) García-Bravo M1, López-Gómez S2, Segurado-Rodríguez MA2, Morán-Jiménez MJ1, Méndez M1, Enríquez de Salamnca R1, Fontanellas A1 EXTENSIVE ANALYSIS OF A FAMILY WITH CONGENITAL ERYTHROPOIETIC PORPHYRIA ABSENCE OF CLINICAL MANIFESTATIONS IN AN HOMOZYGOUS MUTANT SIBLING – (volume 52-2003) Ged C1, Megarbane H2, Chouery E3, Megarbane A3, De Verneuil H1 FERROCHELATASE ALLELIC VARIANTS AND CLINICAL MANIFESTATION OF ERYTHROPOIETIC PROTOPORPHYRIA – (volume 52-2003) Gouya L, Puy H, Robreau Am, Lamoril J, Da Silva V, Grandchamp B, Deybach Jc ROLE OF THE WILD-TYPE ALLELE IN THE PENETRANCE OF DOMINANT ACUTE HEPATIC PORPHYRIAS – (volume 52-2003) Gouya L., Puy H., Robreau A.M., Da Silva V., Deybach J.C. QUALITY OF LIFE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA: LONG-TERM FOLLOW-UP OF THREE DIFFERENT CASES – (volume 52-2003) Griso D1, Barbieri L1, Barile S1, Sorge F1, Usai U1, Morreale G2, Cappelli B2, Lanino E2, Macri A1, Biolcati G1 ACUTE INTERMITTENT PORPHYRIA (A.I.P): A MULTIDISCIPLINARY APPROACH – (volume 52-2003) Guida Cc1, Pileri M2, Garrubba M2, Potenza A3, Caravella M4,Stallone C1 CORRELATION BETWEEN PLASMA AND URINARY LEVELS OF PORPHOBILINOGEN (PBG) AND 5-AMINOLEVULINIC ACID (ALA) IN TEN ASYMPTOMATIC GENE CARRIERS OF ACUTE INTERMITTENT PORPHYRIA (AIP) WITH INCREASED PORPHYRIN PRECURSOR EXCRETION – (volume 52-2003) Harper P1, Floderus Y1, Andersson C2, Möller C2, Rejkjaer L3, Sardh E4, Andersson D.E.H4 ACUTE INTERMITTENT PORPHYRIA IN CATALONIA (SPAIN) – (volume 52-2003) Herrero C, To-Figueras J, Ingelmo M, Oliva R, Munoz C, Munoz E, Carreras C – (volume 52-2003) Hift RJ1, Davidson BP1, Van Der Hooft C2, Meissner PN1 TWO COURSE ILLUMINATING SCHEME IMPROVES AMINOLEVULINIC ACID PHOTODYNAMIC THERAPY IN CELL CULTURES – (volume 52-2003) Hinnen P., Siersema P.D., Edixhoven-Bosdijk A., Wilson J.H.P., De Rooij F.W.M NON-REDUNDANT ROLES FOR HemZ AND HemF IN MAMMALIAN HEME BIOSYNTHESIS – (volume 52-2003) Hunt R.D.1, Bodnárová M.2, Mikula I.2, Chinenov Y.3, Martásek P2, Raman C.S.1 REGULATION OF HEME OXYGENASE-1 GENE EXPRESSION VIA MAP KINASE SIGNALING PATHWAYS IN THE LIVER – (volume 52-2003) Immenschuh S1, Kietzmann T2 CORRECTION OF THE BIOCHEMICAL DEFECT IN PORPHOBILINOGEN DEAMINASE DEFICIENT CELLS BY NON-VIRAL GENE DELIVERY – (volume 52-2003) Johansson A1, Möller C2, Harper P1 VALIDATION OF A DENATURING HPLC ASSAY FOR MUTATION ANALYSIS IN THE HUMAN PROTOPORPHYRINOGEN OXIDASE GENE – (volume 52-2003) Käehne M1, J.C. Deybach2, Puy H2, Robreau A-M2, Viborg D1, Petersen Ne1 A STUDY OF THE POSSIBLE ROLE OF LOW EXPRESSED FUNCTIONAL PPOX ALLELES IN THE VARIABLE PENETRANCE OF VARIEGATE PORPHYRIA – (volume 52-2003) Kimberg M, Warnich L ON THE RELATIONSSHIP BETWEEN PORPHYRIA CUTANEA TARDA AND OTHER COMMON METABOLIC DISEASES (DIABETES, HYPERCHOLESTERINAEMIA) – (volume 52-2003) Koch A.1, Köstler E.1, Stölzel U.2, Wollina U.1 PORPHYRIA CUTANEA TARDA (PCT) AND STEATOSIS HEPATIS – (volume 52-2003) Koch A.1, Köstler E.1, Stölzel U.2, Wollina U.1 REGULATION OF 5-AMINOLEVULINATE SYNTHASE-1 BY GLUCOSE AND HEME – (volume 52-2003) Kolluri S1, Sadlon Tj2, Bonkovsky H1 THERAPEUTIC MONITORING OF PORPHYRIA CUTANEA TARDA (PCT) USING SERUM HAEMOPEXIN – (volume 52-2003) Köstler E.K.1, Stölzel U.2, Hochmann G.H.1, Doss M.O.D.3, Wollina U.1 NOVEL OLIGOPYRROLIC MACROCYCLES AND PORPHYRIN DERIVATIVES: SYNTHESIS AND MEDICINAL APPLICATION – (volume 52-2003) Král V.1, Andrioletti B.2, Rose E.2, Dolenský B.1, Kroulík J.1, Bernátková M.1, Cígler P.1, Hub M.1, Sinica A1, Králová J3 NOVEL PORPHYRIN AND EXPANDED PORPHYRIN DERIVATIVES WITH CAPACITY TO INDUCE APOPTOSIS IN VARIOUS TUMOR CELLS FOLLOWING PHOTODYNAMIC TREATMENT – (volume 52-2003) Králová J.1, Král V.2, Dvorák M.1, Sinica A.2, Vašek P.2, Cígler P.2, Volka K.2, Sessler J.L.3, Poucková P.4, Valík M.2 ALTERATIONS OF PORPHYRIN METABOLISM IN MICE BY GRISEOFULVIN – (volume 52-2003) Laftah A, Simpson Rj, Deacon A, Peters Tj FLUOROMETRIC MEASUREMENT OF 5-AMINOLEVULINIC ACID IN SERUM – (volume 52-2003) Lee C1, Goeger De2, Qiao X1, Anderson Ke1 IRON METABOLISM IN ERYTHROPOIETIC PROTOPORPHYRIC MOUSE MODEL – (volume 52-2003) Lyoumi S.1, Abitbol M.2, Gouya L.1, Andrieu V.3, Da Silva V.1, Beaumont C.1, Deybach J.C.1, Puy H.1 ERYTHROPOIETIC PROTOPORPHYRIA: A RAPID METHOD TO DETECT ASYMPTOMATIC GENE CARRIERS – (volume 52-2003) Macri A, Barile S, Gerolamo U, Barbieri B, Sorge F, Griso D, Biolcati G KINETIC AND PHYSICAL CHARACTERISATION OF RECOMBINANT WILD TYPE AND MUTANT HUMAN PROTOPORPHYRINOGEN OXIDASES – (volume 52-2003) Maneli MH1, Corrigall AV1, Davids LM1, Klump H2, Kirsch RE3, Meissner PN1 KINETIC AND PHYSICAL CHARACTERISATION OF RECOMBINANT WILD TYPE AND MUTANT HUMAN PROTOPORPHYRINOGEN OXIDASES – (volume 52-2003) Maneli MH1, Corrigall AV1, Davids LM1, Klump H2, Kirsch RE3, Meissner PN1 IDENTIFICATION OF THE SPECIFIC MUTATIONS IN THE CPO GENE RESPONSIBLE FOR GENOTYPE-PHENOTYPE RELATIONSHIP BETWEEN HEREDITARY COPROPORPHYRIA AND HARDEROPORPHYRIA – (volume 52-2003) Martin C.1, Gouya L.1, Da Silva V.1, Camadro J.M.2, Puy H.1, Deybach J.C.1 CLINICAL AND NUTRITIONAL MANAGEMENT OF ACUTE PORPHYRIAS – (volume 52-2003) Martin L.1, Tomassi L.2, Parera V.E.3, Batlle A.3 EFFECT OF POLYPHENOLS ANTIOXIDANTS ON A MOUSE MODEL OF PROTOPORPHYRIA – (volume 52-2003) Martinez M.Del C., Afonso S.G., Batlle A. TWO MUTATIONS IN UROPORPHYRINOGEN DECARBOXYLASE (UROD) GENE LEADING TO MILD PHENOTYPE OF HEPATOERYTHROPOIETIC PORPHYRIA (HEP) IN ITALY – (volume 52-2003) Martinez di Montemuros F1, Tavazzi D1, Patti E1, Galanello R2, Fiorelli G1, Cappellini MD1 MUTATIONAL ANALYSIS FOR ACUTE HEPATIC PORPHYRIAS IN THE UNITED KINGDOM – (volume 52-2003) Mason NG, Elder GH, Badminton MN MOLECULAR GENETICS OF ERYTHROPOIETIC PORPHYRIA – (volume 52-2003) Mason NG1, Khan M1, Whatley SD1, Badminton MN1, Dailey T2, Dailey H2, Elder GH1 HO1 EXPRESSION AND IMMUNOHISTOCHEMICAL LOCALIZATION IN A MICE MODEL OF CHEMICALLY INDUCE HEPATOCARCINOGENESIS – (volume 52-2003) Meiss R.1, Caballero F.A.2, Gimenez A.2, Batlle A.2, Vazquez E.2 DUAL PORPHYRIA – PORPHYRIA CUTANEA TARDA AND VARIEGATE PORPHYRIA – IN ARGENTINA – (volume 52-2003) Melito V., Parera V.E., Rossetti M.V., Batlle A. COPROPORPHYRINOGEN OXIDASE: STRATEGIES FOR UNRAVELING STRUCTURE-FUNCTION RELATIONSHIPS IN ENZYME DEFICIENT IN HEREDITARY COPROPORPHYRIA – (volume 52-2003) Mikula I.1, Bodnárová M.1, Lee D.-S.2, Flachsová E.1, Rosipal R.1, Zeman J.1, Moroz L.3, Raman C.S. 2, Martásek P.1 DIAGNOSING PORPHYRIA – A CLINICAL AND BIOCHEMICAL SURVEY IN SWISS PATIENTS WITH ACUTE-INTERMITTENT PORPHYRIA – (volume 52-2003) Minder E DO THE DIFFERENT MUTATIONS IN THE HFE GENE INFLUENCE THE DISTRIBUTION OF THE PORPHYRIN LEVELS IN PORPHYRIA CUTANEA TARDA? – (volume 52-2003) Morvay M, Koszo F, Dobozy A HEPATIC MITOCHONDRIAL RESPIRATORY CHAIN ENZYME ACTIVITIES CORRELATED WITH EXTENT OF LIVER DAMAGE IN A MURINE MODEL FOR ERYTHROPOIETIC PROTOPORPHYRIA – (volume 52-2003) Navarro S1, del Hoyo P1, Campos Y1, Abitbol M2, Morán-Jiménez MJ1, García-Bravo M1, Grau M1, Montagutelli X2, Enríquez de Salamanca R1, Fontanellas A1 COPROPORPHYRIA IN ARGENTINEAN PATIENTS: GENETIC STUDIES – (volume 52-2003) Parera V.E.1, Koole R.2, Batlle A.1, De Rooij F.W.M.2 MOLECULAR ANALYSIS OF THE PPOX GENE IN ITALIAN PATIENTS WITH VARIEGATE PORPHYRIA (VP): IDENTIFICATION OF 3 NOVEL MUTATIONS – (volume 52-2003) Patti E, Martinez di Montemuros F, Di Pierro E, Tavazzi D, Cappellini MD STRUCTURAL BASIS FOR TETRAPYROLE COORDINATION BY UROPORPHYRINOGEN DECARBOXYLASE – (volume 52-2003) Phillips JD, Whitby FG, Hill CP, Kushner JP PROGNOSTIC VALUE OF SCALING IN ACUTE ATTACK OF AIP – (volume 52-2003) Pischik E1, Kauppinen R2 IDENTIFICATION OF NINE MUTATIONS INCLUDING THREE NOVEL MUTATIONS AMONG RUSSIAN AIP PATIENTS AND DESCRIPTION OF ONE HOMOZYGOUS PATIENT – (volume 52-2003) Pischik E1,2, Mehtälä S1, Smirnova I3, Kazakov V2, Kauppinen R1 UPREGULATION OF CYP1B1, CYP3A, TAP1 AND TAP2 IN CULTURED LYMPHOCYTES FROM PATIENTS WITH PORPHYRIA CUTANEA TARDA AFTER IN VITRO-STIMULATION WITH INTERFERON ALPHA – (volume 52-2003) Poblete-Gutiérrez P1, Neis MM2, Rübben A2, Merk HF2, Baron JM2, Frank J3 DEMYSTIFICATION OF CHESTER PORPHYRIA: A NONSENSE MUTATION IN THE PORPHOBILINOGEN DEAMINASE GENE – (volume 52-2003) Poblete-Gutiérrez P1, Wiederholt T1, Martinez-Mir A2, Merk HF3, Connor JM4, Christiano AM5, Frank J6 ACUTE PORPHYRIA – BUT WHICH ONE? – (volume 52-2003) Pusztai Á1, Bor M1, Székely E1, Balogh K2, Berkes E2, Hunyady L2, Tasnádi Gy1 AN ALTERNATIVELY-SPLICED 5’UNTRANSLATED EXON IN HUMAN ALAS1 INHIBITS TRANSLATION AND HAEM-REGULATED mRNA DESTABILISATION – (volume 52-2003) Roberts AG, Llewellyn DH PRO- AND ANTIOXIDANT FACTORS IN ACUTE INTERMITTENT PORPHYRIA – (volume 52-2003) Rocchi E, Ventura P, Ronzoni A, Rosa MC, Gozzi C, Casalgrandi G EVALUATION OF NEUROTOXICITY OF PORPHYRINOGENIC AGENTS THROUGH DIFFERENT HEME METABOLISM PARAMETERS – (volume 52-2003) Rodriguez J., Lavandera J., Martinez M. Del C., Gerez E., Batlle A., Buzaleh A.M. OVERT PCT IN A SYMPTOMATIC AIP PATIENT ON HEMODIALYSIS – (volume 52-2003) Sardh E1, Harper P2, Henrichson A2, Möller C3, Andersson D.E.H1 FIRST CLINICAL TRIAL OF I.V. rhPBGD IN HEALTHY SUBJECTS WITH AND WITHOUT DIAGNOSED MANIFEST ACUTE INTERMITTENT PORPHYRIA (AIP) – (volume 52-2003) Sardh E.1, Rejkjaer L.2, Harper P.3, Andersson D.E.H.1 IDENTIFICATION OF KEY ELEMENTS THAT ARE RESPONSIBLE FOR HEME-MEDIATED INDUCTION OF THE CHICK HEME OXYGENASE-1 GENE – (volume 52-2003) Shan Y., Lambrecht R.W., Bonkovsky H.L. NON-HEME INDUCTION OF HO-1 DOES NOT APPARENTLY ALTER CELLULAR IRON LEVELS – (volume 52-2003) Sheftel AD1, Kim S2, Ponka P1 HIGHLY EFFICIENT HEME SYNTHESIS IN ERYTHROID CELLS REQUIRES A DIRECT TRANSFER OF IRON FROM TRANSFERRIN ENDOSOMES TO MITOCHONDRIA – (volume 52-2003) Sheftel A.D.1, Zhang A.-S.2, Shirihai O.3, Ponka P.1 MOLECULAR CHANGES IN PORPHOBILINOGEN DEAMINASE IN AIP – (volume 52-2003) Shoolingin-Jordan P.1, McNeill L.2 PARTIAL CHARACTERISATION OF RECOMBINANT MYXOCOCCUS XANTHUS AND HUMAN PROTOPORPHYRINOGEN OXIDASES, AND THEIR PHYLOGENETIC ANALYSES USING PROTEIN SEQUENCES FROM DIVERSE SPECIES – (volume 52-2003) Siziba KB1, Corrigall AV1, Gamieldien J2, Maneli MH1, Kirsch RE3, Meissner PN1 AN AIP FAMILY WITH NO HMBS SEQUENCE VARIANT – (volume 52-2003) Skadberg O1, Espetvedt L2, Boman H2, Sandberg S1 MOLECULAR CHARACTERIZATION OF A SPANISH PATIENT WITH X-LINKED SIDEROBLASTIC ANEMIA – (volume 52-2003) Solis C.S.1, Carral A.C.2, Perez-Gordillo F.P-G.1, Lajo A.L.1 ACUTE HEPATIC PORPHYRIAS WITHOUT DETECTABLE GENETIC DEFECTS – (volume 52-2003) Stauch T.1, Renz M1., Seelig H. P1, Doss M.O.2 ESTABLISHMENT OF A NATIONAL REGISTER OF PORPHYRIA PATIENTS – CAN IT BE EXTENDED TO A EUROPEAN REGISTER? – (volume 52-2003) Stole E., Aarsand A.K., Skadberg O., Tollali , Brun A. , Sandberg S. HFE-MUTATIONS AND RESPONSE TO CHLOROQUINE IN PORPHYRIA CUTANEA TARDA – (volume 52-2003) Stölzel U1, Richter M1, Schuppan D2, Doss MO3, Wollina U4, Wittekind C5, Tannapfel A5, Köstler E4 EFFECTIVENESS OF ALPHA-LIPOIC ACID IN PORPHYRIA CUTANEA TARDA – (volume 52-2003) Székely E.1, Tasnádi GY.1, Pallai ZS.2, Kurucz T.2, Rapavi E.3, Bor M.1, Pusztai Á.1, Blázovics A.3 EXTENDED AND REVISED PORPHYRIA DRUG LIST: SCHEME FOR PREVENTIVE MEASURES IN PORPHYRIA PHARMACOTHERAPY – (volume 52-2003) Thunell S1, Bjernevik K2, Thunell G2 A NOVEL MUTATION IN THE FERROCHELATASE GENE AMONG FINNISH EPP PATIENTS – (volume 52-2003) Timonen K1, Veikkolainen V2, Kauppinen R2 LONG-STANDING CHANGES IN THE URINARY PROFILE OF PORPHYRINS AFTER CLINICAL REMISSION OF PORPHYRIA CUTANEA TARDA – (volume 52-2003) To-Figueras J, Ozalla MD, Herrero C BEING PREPARED, BUT PREPARED FOR WHAT?” A QUALITATIVE STUDY ON THE EXPERIENCE OF GENETIC COUNSELLING AND LIVING WITH A PREDISPOSITION FOR ACUTE INTERMITTENT PORPHYRIA – (volume 52-2003) Tonder S.L1, Raaheim M2, Skadberg O1, Sandberg S1 MITOCHONDRIAL TARGETING MECHANISMS OF PROTOPORPHYRINOGEN OXIDASE: IDENTIFICATION AND CHARACTERIZATION OF INTERNAL TARGETING SEQUENCES – (volume 52-2003) von und zu Fraunberg M, Kauppinen R VARIEGATE PORPHYRIA IN SOUTH AFRICA: A POPULATION-BASED STUDY TO DETERMINE THE FREQUENCY OF THE FOUNDER GENE MUTATION (R59W) – (volume 52-2003) Warnich L, Koegelenberg AJ SHORT-TERM AND LONG-TERM WITHIN-SUBJECT BIOLOGICAL VARIATION OF URINARY ALA, PBG AND PORPHYRINS IN ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) Aarsand AK1, Petersen PH2, Sandberg S1 HUMAN X-LINKED SIDEROBLASTIC ANAEMIA (XLSA) CAUSING MUTATIONS EXPLAINED BY THE CRYSTAL STRUCTURE OF 5-AMINOLEVULINATE SYNTHASE FROM RHODOBACTER CAPSULATUS – (South Africa Congress, Cape Town-2005) I. Astner1, J.O. Schulze1, W.-D. Schubert1, D. Jahn2, D.W. Heinz1 UROD R193P – A NORWEGIAN FOUNDER MUTATION FOR PORPHYRIA CUTANEA TARDA – (South Africa Congress, Cape Town-2005) Boman H1,2, Aarsand AK2, Sandberg S2 PORPHYRIA DIAGNOSIS – PROBLEMS AND PITFALLS – (South Africa Congress, Cape Town-2005) Sylvia S. Bottomley RENAL CLEARANCE OF PLASMA PORPHYRINS IN PCT PATIENTS – (South Africa Congress, Cape Town-2005) Axel Brock and Erland J. Erlandsen EFFECT OF HIGH LEVELS OF HEMIN ON THE ANTIOXIDANT DEFENSE SYSTEM OF TRYPANOSOMA CRUZI – (South Africa Congress, Cape Town-2005) Alejandra Ciccarelli, Elisa Lombardo, Lidia Araujo & Alcira Batlle ACTIVE SITE OF HUMAN FERROCHELATASE – (South Africa Congress, Cape Town-2005) H.A. Dailey, C.-K. Wu, W.N. Missaoui, P. Horanyi, B.-C. Wang, J. Rose, and T.A. Dailey THE IRISH NATIONAL PORPHYRIA DATABASE – (South Africa Congress, Cape Town-2005) Darby C1, Sullivan G2, Rennison A3, Marr R3 Brazil N1, Breen E1, Crowley VEF4, Gannon P4 REVIEW OF PORPHYRIA IN THE REPUBLIC OF IRELAND – (South Africa Congress, Cape Town-2005) C Darby, RR O’Moore and VEF Crowley ANCESTRAL FOUNDER OF MUTATION R116W IN THE PORPHOBILINOGEN DEAMINASE GENE AMONG DUTCH ACUTE INTERMITTENT PORPHYRIA PATIENTS – (South Africa Congress, Cape Town-2005) F.W.M. de Rooij, F.G. Kavelaars, H. Koole-Lesuis, J.H.P. Wilson AUTOSOMAL RECESSIVE ERYTHROPOIETIC PROTOPORPHYRIA WITHOUT IVS3-48C IN TWO BROTHERS WITH LIVER DYSFUNCTION IN EARLY CHILDHOOD – (South Africa Congress, Cape Town-2005) F.W.M. de Rooij, K. Munte, A. Edixhoven, R. Koole, J.H.P. Wilson EUROPEAN PORPHYRIA INITIATIVE (EPI): A PLATFORM TO DEVELOP A COMMON APPROACH TO THE MANAGEMENT OF PORPHYRIAS AND TO PROMOTE RESEARCH IN THE FIELD – (South Africa Congress, Cape Town-2005) Jean-Charles Deybach1, Mike Badminton2, Hervé Puy1, Sverre Sandberg3, Jorge Frank4, Pauline Harper5, Pavel Martasek6, Elisabeth Minder7, Samantha Parker8, Stig Thunell5 George Elder2 ALA-PDT SENSITIVITY OF CELL LINES RESISTANT TO NITRIC OXIDE CYTOTOXICITY – (South Africa Congress, Cape Town-2005) Gabriela Divenosa, Adriana Casas, Christian Perotti, Haydee Fukuda & Alcira Batlle PORPHYRIA CONSULTATION: FORTY YEAR EXPERIENCE IN GERMANY – (South Africa Congress, Cape Town-2005) Manfred O. Doss1, Ulrich Groß1, Thomas Stauch2 ERYTHROPOIETIC PORPHYRIA AND HAEMATOLOGICAL MALIGNANCY – (South Africa Congress, Cape Town-2005) Elder GH, Whatley SD, Woolf J, Mason NG, 1Masters G, Badminton MN QUANTITATION OF PLASMA PORPHYRINS:VALIDATION OF LIQUID-LIQUID EXTRACTION METHOD – (South Africa Congress, Cape Town-2005) Erland J. Erlandsen, Peer R Mortensen, Bente Warshawsky, Axel Brock VARIEGATE PORPHYRIA IN ARGENTINEAN POPULATION. CHARACTERIZARION OF THE MOLECULAR DEFECT – (South Africa Congress, Cape Town-2005) Mariela Ferreira Gomes, Victoria Parera, Alcira Batlle & Maria Victoria Rossetti EFFECTS OF REPEATED ADMINISTRATION WITH CP-55,940, A CANNABINOID CB1 RECEPTOR AGONIST ON THE METABOLISM OF THE HEPATIC HEME – (South Africa Congress, Cape Town-2005) María García-Bravo1, Antonio Fontanellas1, Ana María Buzaleh2, Manuel Méndez1, José María Oliva1, Alcira Batlle2, Tomas Palomo1, Rafael Enríquez de Salamanca1 CONTRIBUTION OF A COMMON SINGLE SNP TO THE GENETIC PREDISPOSITION TO ERYTHROPOIETIC PROTOPORPHYRIA – (South Africa Congress, Cape Town-2005) Laurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, Saïd Lyoumi, Vasco Da Silva, Hervé Puy, Jean-Charles Deybach* CONGENITAL ERYTHROPOIETIC PROTOPORPHYRIA: APPARENT AMELIORATION OF SYMPTOMS AND SUCCESSFUL PREGNANCY – (South Africa Congress, Cape Town-2005) Hallai N1, Anstey AV1, Williams J2, Mendelsohn S3, Mallick S2, Badminton MN PLASMA AND URINARY HEME PRECURSOR PATTERNS AFTER I.V. RHPBGD ADMINISTRATION TO ASYMPTOMATIC PBGD-DEFICIENT SUBJECTS WITH HIGH EXCRETION OF URINARY PBG – (South Africa Congress, Cape Town-2005) *Harper P, #Sardh E, *Henrichson A, Rejkjær L, #Andersson DEH BIOCHEMICAL AND GENETIC CHARACTERIZATION OF FOUR CASES OF HEREDITARY COPROPORPHYRIA IN SPAIN – (South Africa Congress, Cape Town-2005) Carmen Herrero , Jordi To-Figueras , Celia Badenas , Maria T Enríquez (*), Sonia Segura , Concepción Alvarez (**), Montserrat Milà , Marius Lecha UNITED KINGDOM PROSPECTIVE CLINICOPATHOLOGICAL STUDY ON ERYTHROPOIETIC PROTOPORPHYRIA – (South Africa Congress, Cape Town-2005) SA Holme, AV Anstey, NM Badminton*, GH Elder* UNITED KINGDOM PROSPECTIVE STUDY ON ERYTHROPOIETIC PROTOPORPHYRIA: QUALITY OF LIFE ASSESSMENT – (South Africa Congress, Cape Town-2005) SA Holme, AV Anstey, NM Badminton*, GH Elder* DOES SCREENING FOR HEPATOCELLULAR CARCINOMA BENEFIT PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA? – (South Africa Congress, Cape Town-2005) M. Holmgren and C. Andersson STRUCTURE AND FUNCTION OF HEME BIOSYNTHETIC ENZYMES – (South Africa Congress, Cape Town-2005) Martina Jahn, Ilka Heinemann & Dieter Jahn ADENOVIRAL-MEDIATED EXPRESSION OF PORPHOBILINOGEN DEAMINASE IN LIVER RESTORES THE METABOLIC DEFECT IN A MOUSE MODEL OF ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) Johansson A1,*, Nowak G2, Möller C3, Blomberg P4, Harper P1 INVESTIGATION OF THE EFFECTS OF AN AROMATIC RESIDUE AT CODON 59 OF HUMAN PROTOPORPHYRINOGEN OXIDASE – (South Africa Congress, Cape Town-2005) A Josias, AV Corrigall, RE Kirsch, PN Meissner NOVEL 19 BP DELETION OF EXON 15 IN THE PBGD GENE AND NORMAL ERYTROCYTE PORPHOBILINOGEN ACTIVITY IN A PATIENT WITH ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) R.Kauppinen, A.Yrjönen, E.Pishick HOMOZYGOUS VARIEGATE PORPHYRIA PATIENT WITH SEVERE IGA NEPHROPATHY – (South Africa Congress, Cape Town-2005) R.Kauppinen, K Timonen SPECTRUM OF MUTATIONS IN THE FERROCHELATASE GENE IDENTIFIED AMONG FINNISH ERYTRHROPOIETIC PROTOPORPHYRIA PATIENTS INCLUDING A NOVEL SPLICING DEFECT – (South Africa Congress, Cape Town-2005) R.Kauppinen, Kaisa Timonen LIVER BIOPSY MORPHOLOGY AND HFE-GENE STATUS IN CUTANEOUS PORPHYRIA (PCT) – (South Africa Congress, Cape Town-2005) E. Köstler, U. Stölzel, G. Sell, U. Wollina INVOLVEMENT OF FASE I DRUG METABOLIZING SYSTEM IN THE METABOLIZATION OF PORPHYRINOGENIC AGENTS IN BRAIN. A COMPARATIVE STUDY IN LIVER AND KIDNEY – (South Africa Congress, Cape Town-2005) Jimena Lavandera, Alcira Batlle & Ana Maria Buzaleh INSULIN AND VANADATE ACTION ON HEME BIOSYNTHESIS GENES TRANSCRIPTION IN DIABETIC MICE – (South Africa Congress, Cape Town-2005) Oliveri Leda, Vazquez Elba, Batlle Alcira, Gerez Esther A CASE OF ALAD PORPHYRIA IN NORTH AMERICA: RESPONSE TO HEMIN THERAPY – (South Africa Congress, Cape Town-2005) 1Chul Lee, 1Karl E. Anderson, 2Shigeru Sassa and 3Reiko Akagi THE 1.58 Å CRYSTAL STRUCTURE OF HUMAN COPROPORPHYRINOGEN OXIDASE REVEALS THE STRUCTURAL BASIS OF HEREDITARY COPROPORPHYRIA – (South Africa Congress, Cape Town-2005) Dong-Sun Lee*, Eva Flachsová‡, Michaela Bodnárová‡, Borries Demeler†, Pavel Martásek‡ & C. S. Raman*§ EXPERIMENTAL PROTOPORPHYRIA: EFFECT OF BILE ACIDS ON GRISEOFULVIN-INDUCED HEPATIC DAMAGE – (South Africa Congress, Cape Town-2005) Martinez, María. del Carmen., Batlle, Alcira & Afonso, Susana FREQUENCY OF INTRON 1 C/A POLYMORPHISM OF THE CYP1A2 IN SPANISH PATIENTS WITH PORPHYRIA CUTANEA TARDA – (South Africa Congress, Cape Town-2005) María Martínez-Fresno (1), Nuno Henriques-Gil (1), María-Concepción Garrido (2), Teresa Perucho-Alcalde (1), María García-Bravo (2), Manuel Méndez (2), Antonio Fontanellas (2), Rafael Enríquez de Salamanca (2) EFFECTS OF THE HERBICIDE ACIFLUORFEN IN THE R59W PROTOPORPHYRINOGEN OXIDASE MUTANT MOUSE MODEL FOR VARIEGATE PORPHYRIA – (South Africa Congress, Cape Town-2005) A Medlock, R Meldau, A Corrigall, A Josias, R Hift, Pete Meissner MOLECULAR HETEROGENEITY OF PORPHYRIA CUTANEA TARDA IN SPAIN: IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF MUTATIONS IN THE UROPORPHYRINOGEN DECARBOXYLASE GENE – (South Africa Congress, Cape Town-2005) *Manuel Mendez1, *Pamela Poblete-Gutiérrez2, Jaime Cruz-Rojo 1, María García-Bravo1 María-Concepción Garrido1, Rafael Enríquez de Salamanca1, Jorge Frank2, Antonio Fontanellas1 ATYPICAL RED CELL INCLUSIONS IN A PATIENT WITH CONGENITAL ERYTHROPOIETIC PORPHYRIA – (South Africa Congress, Cape Town-2005) A Merino, M Rozman*, C Herrero**, J To-Figueras, A Ordinas STUDY OF THE OLIGOMERIC STATUS OF COPROPORPHYRINOGEN OXIDASE (CPO) USING ANALYTICAL ULTRACENTRIFUGATION (AU) – (South Africa Congress, Cape Town-2005) Ivan Mikula1, Borries Demeler2 and Pavel Martásek1 DISEQUILIBRIUM IN EXPRESSION OF APOPTOSIS FACTORS BETWEEN SYMPTOMATIC AND ASYMPTOMATIC INDIVIDUALS WITH ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) Elisabeth I. Minder, Anna-Elisabeth Minder and Xiaoye Schneider-Yin CONCURRENT UPREGULATION OF HAEM OXYGENASE 1 AND CYTOCHROME P450 2A5: POSSIBLE ROLE OF Nrf2 AND hnRNP A1 – (South Africa Congress, Cape Town-2005) Michael R. Moore1, Aedah A. Bakar1, Matti A Lang2 PRODUCTION AND CHARACTERIZATION OF ERYTHROPOIETIC PROTOPORPHYRIC HETERODIMERIC FERROCHELATASES – (South Africa Congress, Cape Town-2005) Wided Najahi-Missaoui and Harry A. Dailey THE MANAGEMENT OF PORPHYRIC PATIENTS WITH MALIGNANT DISEASE: A REVIEW OF THE LITERATURE AND RECOMMENDATIONS FOR THE FUTURE – (South Africa Congress, Cape Town-2005) Carlo Palmieri1, David M.Vigushin1, Timothy J Peters2 CONGENITAL ERYTHROPOIETIC PORPHYRIA IN ARGENTINA – (South Africa Congress, Cape Town-2005) Victoria Parera, Maria Victoria Rossetti, Viviana Melito & Alcira Batlle CHARACTERISATION OF ERYTHROPOIETIC PROTOPORPHYRIA IN SOUTH AFRICA – (South Africa Congress, Cape Town-2005) Michelle Parker , Anne V. Corrigall and Peter N. Meissner HEPATIC GENE EXPRESSION PROFILING IN HEPATITIC C VIRUS INFECTED PATIENTS WITH PORPHYRIA CUTANEA TARDA (PCT) – (South Africa Congress, Cape Town-2005) John D. Phillips1, Maria W. Smith2, Michael Katze2 and James P. Kushner1 NATURAL COURSE OF AN ACUTE ATTACK IN ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) E.Pishick, A. Yrjönen, R.Kauppinen THE DRUG DATABASE FOR ACUTE PORPHYRIA – (South Africa Congress, Cape Town-2005) Erik Pomp *, Stig Thunell § and Atle Brun * DRUG PORPHYRINOGENICITY MONOGRAPHS IN THE DRUG DATABASE FOR ACUTE PORPHYRIA – (South Africa Congress, Cape Town-2005) Erik Pomp *, Stig Thunell § and Atle Brun * HAEM-MEDIATED DESTABILISATION OF HUMAN ALAS1 mRNA – (South Africa Congress, Cape Town-2005) Sadie J. Redding, AG Roberts and D Llewellyn URINARY COPROPORPHYRIN ISOMERS IN CONGENITAL AND ACQUIRED LIVER CHOLESTASIS – (South Africa Congress, Cape Town-2005) E. Rocchi1, P. Ventura2, G. Casalgrandi1, S. Marchini2 5-AMINOLEVULINIC ACID ALTERS THE ANTIOXIDANT ENZYME SYSTEM IN MICE BRAIN – (South Africa Congress, Cape Town-2005) Jorge Rodriguez, Alcira Batlle & Ana Maria Buzaleh CLINICAL, BIOCHEMICAL AND PATHOHISTOLOGICAL ASPECTS IN 12 PATIENTS WITH ACUTE PORPHYRIA AND HEPATOCELLULAR CANCER – (South Africa Congress, Cape Town-2005) Sardh E#, Harper P*, Andersson DEH# RELIABLE BIOCHEMICAL CRITERIA FOR CONFIRMING AN ACUTE ATTACK OF NEUROPORPHYRIA – (South Africa Congress, Cape Town-2005) N. Schoenfeld1,2 and R. Mamet1 KISS AND RUN: THE ROUTE OF IRON FROM ENDOSOMES TO MITOCHONDRIA CAN BYPASS THE CYTOSOL IN HEMOGLOBIN-PRODUCING CELLS – (South Africa Congress, Cape Town-2005) Alex Sheftel [1], An-Sheng Zhang[1,2], Orian Shirihai [3], Prem Ponka* [1] STRUCTURAL ASPECTS OF HUMAN PBG DEAMINASE IN RELATION TO ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) Peter Shoolingin-Jordan, Luke McNeill, Abeer Al Dbass, Raj Gill, Steve Wood, Fiyaz Mohammed, Julie Mosley and Danica Butler MOUSE MODELS FOR STUDYING THE EFFECTS OF ALCOHOL AND ASCORBIC ACID IN PCT – (South Africa Congress, Cape Town-2005) Peter R Sinclair, Nadia Gorman, Heidi W. Trask, Juliana G. Szakacs, George H. Elder, Dominic Balestra, Nicholas J. Jacobs, Judith M. Jacobs, Jacqueline F. Sinclair , and Glenn S. Gerhard VARIEGATE PORPHYRIA VERSUS PCT AND ACNE: PITFALLS IN DIAGNOSIS AND TREATMENT – (South Africa Congress, Cape Town-2005) Th. Stauch, M. Doss-Frank and M. O. Doss THE NORWEGIAN PORPHYRIA REGISTER – (South Africa Congress, Cape Town-2005) Stoele E, Johannessen RA, Aarsand AK, Brun A and Sandberg S HFE-MUTATIONS, IRON, HEPATITIS C, AUTOIMMUNITY, LIVER DAMAGE AND THERAPEUTIC RESPONSE IN PORPHYRIA CUTANEA TARDA IN GERMANY – (South Africa Congress, Cape Town-2005) Ulrich Stölzel, MD (1); Erich Köstler, MD (2); Detlef Schuppan, MD (3); Matthias Richter, MD (1); Manfred O. Doss, MD (4); Uwe Wollina, MD (2) INDIVIDUAL REFERENCE VALUES OF URINARY ALA, PBG AND PORPHYRINS IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA – (South Africa Congress, Cape Town-2005) Jordi To-Figueras, Gregori Casals, Carlos Muñoz, Cristina Carrera, Carmen Herrero EXPERIENCE OF GENETIC COUNSELING IN NORWAY – (South Africa Congress, Cape Town-2005) Siv Lisbeth Tønder, Helge Boman*, Øyvind Skadberg and Sverre Sandberg MUTATION SCREENING IN NEWLY (2004) DIAGNOZED PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA FROM CZECH AND SLOVAK REPUBLICS – (South Africa Congress, Cape Town-2005) Dana Ulbrichova, Matous Hrdinka, Eva Flachsová, Ivan Mikula, Michaela Bodnarova, Jana Prochazkova, Jana Saligova1, Eva Silhanova2, Hana Halamkova3, Jiri Zeman, Pavel Martasek CHARACTERISATION OF MITOCHONDRIAL TARGETING OF WILD TYPE AND MUTANT (L88Q) HUMAN COPROPORPHYRINOGEN OXIDASE – (South Africa Congress, Cape Town-2005) Van Der Merwe D, Roberts AG, Badminton MN FOUR CASES OF CHOLESTATIC LIVER FAILURE IN ERYTHROPOIETIC PROTOPORPHYRIA – VARYING CLINICAL COURSE AND EXAMPLE OF EFFECTIVE MEDICAL TREATMENT – (South Africa Congress, Cape Town-2005) Staffan Wahlin1, Ulrika Broomé1, Pauline Harper2 MUTATION DETECTION IN THE FECH GENE – (South Africa Congress, Cape Town-2005) Whatley SD, Woods L, Mason NG, Roberts AG, Badminton MN DRUG PRESCRIPTION IN PATIENTS WITH CRIGLER-NAJJAR SYNDROME – (South Africa Congress, Cape Town-2005) J.H.P. Wilson, M. Sinaasappel PREGNANCY IN CRIGLER-NAJJAR SYNDROME – (South Africa Congress, Cape Town-2005) J.H.P. Wilson, M. Sinaasappel, F.K. Lotgering THE DIAGNOSIS OF ACUTE HEPATIC PORPHYRIA BY PLASMA ALA, PBG, FLUORESCENCE SCANNING AND ENZYME ASSAYS, USING DNA ANALYSIS AS REFERENCE – (South Africa Congress, Cape Town-2005) J.H.P. Wilson, A. Edixhoven, R. Koole, F.W.M. de Rooij A TRUNCATED FORM OF HEME OXYGENASE-1 IS FOUND IN THE NUCLEUS OF CULTURED CELLS IN RESPONSE TO INCREASES IN INTRACELLULAR HEME – (South Africa Congress, Cape Town-2005) Guang Yang, Ph.D.*, Qing Lin, Ph.D.*, Yi-Hao Weng, M.D.#. Kimberly Rish, M.S.**, Ann Smith, Ph.D. ** and Phyllis A. Dennery, M.D. 5-AMINOLEVULINATE SYNTHASE SCAFFOLD AND CONVERSION INTO A MORE ACTIVE ENZYME – (South Africa Congress, Cape Town-2005) J.-S. Zhang, G. A. Hunter and G. C. Ferreira Print entire Abstract book 2005 >> Print entire Abstract book 2003 >> Print selected Abstract(s) >> PDF files require Adobe Acrobat Reader; click here to download this free program << New Search ← PORFIRIA AGUDA → Drug Crisis: What is the Illinois State Doing to Control the Epidemic?