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The mission of the European Porphyria Initiative (EPI) is to present an up to date approach to the understanding of porphyria, focusing in particular on the prevention and treatment of acute attacks, to provide information and support to families affected by porphyria, and to support and encourage medical research. Porphyrias are uncommon diseases for which diagnosis and treatment varies in individual countries. EPI was formed in order to compare experience between countries, attempt to develop a common approach to the management of these diseases and to facilitate international collaborative clinical research and development. The first phase of the project, of which this website is part, has been undertaken by a steering group.
porphyria, non-profit organization, acute porphyria, varegate porphyria, hereditory coproporphyria, aminolaevulinate, aminolavulinate, 5-aminolaevulinate, 5-aminolavulinate, porphobilinogen, patient guide, list of safe and unsafe drugs, disorder, AIP, EPP, PCT, HCP, VP, non-profit organization dedicated to the health and well-being of individuals and families affected by porphyria, people affected by porphyria, health, well-being of individuals, cutaneous porphyrias, porphyria disorders, symptoms of acute porphyria, abdominal pain, neurologic, and psychiatric disturbances, Acute episodes and no skin changes, Acute intermittent porphyria ALA-dehydratase deficiency, Acute episodes and skin changes, Congenital erythropoietic porphyria,Erythropoietic protoporphyria,Porphyria cutanea tarda, Hepatoerythropoietic porphyria, Health,Conditions and Diseases,Nutrition and Metabolism Disorders ,Porphyrias, Genetic Disorders,Rare Disorders, heme synthesis,Porphyrins and porphyinogens, acute porphyria, non-acute porphyria, non acute porphyria, Laboratory diagnosis, treatment of the acute attack, Porphyria inheritance and molecular genetics, autosomal dominant acute porphyrias, genomic DNA analysis, screening relatives to detect latent porphyria, latent acute porphyria, Protoporphyrinogen oxidase, Faecal porphyrin analysis, Faecal coproporphyrin isomer, Urinary PBG, HMBS gene, Erythrocyte PBG deaminase, PPOX gene, CPO gene, Pr Deybach, pain management in acute porphyria, management of pain during an acute attack, management of pain between an acute attack, Acute neurovisceral attacks, measurement of PBG, porphyria specialist centres, analyse plasma and faecal porphyrins, Drugs and acute attacks, cytochrome P450s, laboratory diagnosis, unsafe drug, safe drug, Porphyria and Porphirins Abstracts, people with acute intermittent porphyria, health care professionals, scientific committee, EPI scientific committee.
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Porphyria and Porphirins Abstracts
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DIFFERENTIATION BETWEEN SPORADIC AND FAMILIAL PORPHYRIA CUTANEA TARDA - (
volume 52-2003
)
Aarsand AK
1
, Brun A
1
, Boman H
2
, Sandberg S
1
WITHIN-SUBJECT BIOLOGICAL VARIATION OF THE URINARY EXCRETION OF ALA, PBG AND PORPHYRINS IN ACUTE INTERMITTENT PORPHYRIA - (
volume 52-2003
)
Aarsand AK
1
, Petersen PH
2
, Sandberg S
1
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 MN
1
, Whatley SD
1
, Goodwin RG
2
, Kell J
3
, Laidler P
4
, Long CC
2
, Burnett AK
3
, Elder GH
1
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 C
1
, Poblete-Gutiérrez P
2
, Kunitz O
3
, Wiederholt T
2
, Merk Hf
4
, Rath W
1
, Frank J
5
FUNCTIONALIZED CALIX[4]PHYRINS: EFFICIENT ACCESS TO UNEXPECTED PORPHOMONO- AND PORPHODIMETHENES - (
volume 52-2003
)
Bernátková M
1
,
2
, Andrioletti B
1
, Rose E
1
, Král V
2
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 M
1
, Balogh K
2
, Berkes E
2
, Székely E
1
, Pusztai Á
1
, Tasnádi Gy
1
, Hunyady L
2
THE NORDIC DRUG DATABASE FOR ACUTE PORPHYRIA - (
volume 52-2003
)
Brun A
1
, Pomp E
1
, Thunell S
2
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 T
1
, Poblete Gutiérrez P
1
, Gardlo K
2
, Bolsen K
2
, Merk HF
3
, Frank J
4
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 AS
1
, Peters TJ
2
, Elwes RDC
1
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 A
1
, Grigoriadou M
2
, Marakomichelakis G
2
, Diamantopoulos E
2
, Raptis S
1
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 C
1
, 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 P
1
, Barbieri L
2
, Macri A
2
, Griso D
2
, Sorrentino F
1
, Sorge F
2
, Gerolamo U
2
, Biolcati G
2
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. Deybach
1
, M. Badminton
2
, G. Elder
2
, J. Frank
3
, P. Martásek
4
, E. Minder
5
, S. Parker
6
, H. Puy
1
, S. Sandberg
7
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 M
1
, López-Gómez S
2
, Segurado-Rodríguez MA
2
, Morán-Jiménez MJ
1
, Méndez M
1
, Enríquez de Salamnca R
1
, Fontanellas A
1
EXTENSIVE ANALYSIS OF A FAMILY WITH CONGENITAL ERYTHROPOIETIC PORPHYRIA ABSENCE OF CLINICAL MANIFESTATIONS IN AN HOMOZYGOUS MUTANT SIBLING - (
volume 52-2003
)
Ged C
1
, Megarbane H
2
, Chouery E
3
, Megarbane A
3
, De Verneuil H
1
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 D
1
, Barbieri L
1
, Barile S
1
, Sorge F
1
, Usai U
1
, Morreale G
2
, Cappelli B
2
, Lanino E
2
, Macri A
1
, Biolcati G
1
ACUTE INTERMITTENT PORPHYRIA (A.I.P): A MULTIDISCIPLINARY APPROACH - (
volume 52-2003
)
Guida Cc
1
, Pileri M
2
, Garrubba M
2
, Potenza A
3
, Caravella M
4
, Stallone C
1
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 P
1
, Floderus Y
1
, Andersson C
2
, Möller C
2
, Rejkjaer L
3
, Sardh E
4
, Andersson D.E.H
4
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 RJ
1
, Davidson BP
1
, Van Der Hooft C
2
, Meissner PN
1
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 P
2
, Raman C.S.
1
REGULATION OF HEME OXYGENASE-1 GENE EXPRESSION VIA MAP KINASE SIGNALING PATHWAYS IN THE LIVER - (
volume 52-2003
)
Immenschuh S
1
, Kietzmann T
2
CORRECTION OF THE BIOCHEMICAL DEFECT IN PORPHOBILINOGEN DEAMINASE DEFICIENT CELLS BY NON-VIRAL GENE DELIVERY - (
volume 52-2003
)
Johansson A
1
, Möller C
2
, Harper P
1
VALIDATION OF A DENATURING HPLC ASSAY FOR MUTATION ANALYSIS IN THE HUMAN PROTOPORPHYRINOGEN OXIDASE GENE - (
volume 52-2003
)
Käehne M
1
, J.C. Deybach
2
, Puy H
2
, Robreau A-M
2
, Viborg D
1
, Petersen Ne
1
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 S
1
, Sadlon Tj
2
, Bonkovsky H
1
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 A
1
, Králová J
3
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 C
1
, Goeger De
2
, Qiao X
1
, Anderson Ke
1
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 MH
1
, Corrigall AV
1
, Davids LM
1
, Klump H
2
, Kirsch RE
3
, Meissner PN
1
KINETIC AND PHYSICAL CHARACTERISATION OF RECOMBINANT WILD TYPE AND MUTANT HUMAN PROTOPORPHYRINOGEN OXIDASES - (
volume 52-2003
)
Maneli MH
1
, Corrigall AV
1
, Davids LM
1
, Klump H
2
, Kirsch RE
3
, Meissner PN
1
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 F
1
, Tavazzi D
1
, Patti E
1
, Galanello R
2
, Fiorelli G
1
, Cappellini MD
1
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 NG
1
, Khan M
1
, Whatley SD
1
, Badminton MN
1
, Dailey T
2
, Dailey H
2
, Elder GH
1
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 S
1
, del Hoyo P
1
, Campos Y
1
, Abitbol M
2
, Morán-Jiménez MJ
1
, García-Bravo M
1
, Grau M
1
, Montagutelli X
2
, Enríquez de Salamanca R
1
, Fontanellas A
1
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 E
1
, Kauppinen R
2
IDENTIFICATION OF NINE MUTATIONS INCLUDING THREE NOVEL MUTATIONS AMONG RUSSIAN AIP PATIENTS AND DESCRIPTION OF ONE HOMOZYGOUS PATIENT - (
volume 52-2003
)
Pischik E
1
,
2
, Mehtälä S
1
, Smirnova I
3
, Kazakov V
2
, Kauppinen R
1
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 P
1
, Neis MM
2
, Rübben A
2
, Merk HF
2
, Baron JM
2
, Frank J
3
DEMYSTIFICATION OF CHESTER PORPHYRIA: A NONSENSE MUTATION IN THE PORPHOBILINOGEN DEAMINASE GENE - (
volume 52-2003
)
Poblete-Gutiérrez P
1
, Wiederholt T
1
, Martinez-Mir A
2
, Merk HF
3
, Connor JM
4
, Christiano AM
5
, Frank J
6
ACUTE PORPHYRIA - BUT WHICH ONE? - (
volume 52-2003
)
Pusztai Á
1
, Bor M
1
, Székely E
1
, Balogh K
2
, Berkes E
2
, Hunyady L
2
, Tasnádi Gy
1
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 E
1
, Harper P
2
, Henrichson A
2
, Möller C
3
, Andersson D.E.H
1
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 AD
1
, Kim S
2
, Ponka P
1
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 KB
1
, Corrigall AV
1
, Gamieldien J
2
, Maneli MH
1
, Kirsch RE
3
, Meissner PN
1
AN AIP FAMILY WITH NO HMBS SEQUENCE VARIANT - (
volume 52-2003
)
Skadberg O
1
, Espetvedt L
2
, Boman H
2
, Sandberg S
1
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 M
1
., Seelig H. P
1
, 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 U
1
, Richter M
1
, Schuppan D
2
, Doss MO
3
, Wollina U
4
, Wittekind C
5
, Tannapfel A
5
, Köstler E
4
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 S
1
, Bjernevik K
2
, Thunell G
2
A NOVEL MUTATION IN THE FERROCHELATASE GENE AMONG FINNISH EPP PATIENTS - (
volume 52-2003
)
Timonen K
1
, Veikkolainen V
2
, Kauppinen R
2
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.L
1
, Raaheim M
2
, Skadberg O
1
, Sandberg S
1
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, Saďd 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, Rejkjćr 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 Milŕ , 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 Ĺ 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 Muńoz, Cristina Carrera, Carmen Herrero
EXPERIENCE OF GENETIC COUNSELING IN NORWAY - (
South Africa Congress, Cape Town-2005
)
Siv Lisbeth Třnder, Helge Boman*, Řyvind 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
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