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La ricerca find articoli where soggetti phrase all words 'variegate porphyria' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 80 riferimenti
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    1. Corrigall, AV; Hift, RJ; Davids, LM; Hancock, V; Meissner, D; Kirsch, RE; Meissner, PN
      Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria

      MOLECULAR GENETICS AND METABOLISM
    2. Grieco, A; Alfei, B; Di Rocco, P; Miele, L; Biolcati, G; Griso, D; Vecchio, FM; Bianco, A; Gasbarrini, G
      Non-alcoholic steatohepatitis induced by carbamazepine and variegate porphyria

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    3. Krijt, J; Krijtova, H; Sanitrak, J
      Effect of tiagabine and topiramate on porphyrin metabolism in an in vivo model of porphyria

      PHARMACOLOGY & TOXICOLOGY
    4. Warnich, L; Waso, HFJ; Groenewald, IM; Bester, AE; de Villiers, JNP; Kotze, MJ; Lynch, AG; Louw, JH
      Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation

      MOLECULAR AND CELLULAR PROBES
    5. Twaddle, S; Wassif, WS; Deacon, AC; Peters, TJ
      Celiac disease in patients with variegate porphyria

      DIGESTIVE DISEASES AND SCIENCES
    6. Kauppinen, R; Timonen, K; Fraunberg, MVZ; Laitinen, E; Ahola, H; Tenhunen, R; Taketani, S; Mustajoki, P
      Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    7. Deacon, AC; Elder, GH
      Front line tests for the investigation of suspected porphyria

      JOURNAL OF CLINICAL PATHOLOGY
    8. Mamet, R; Sztern, M; Rachmel, A; Stahl, B; Flusser, D; Schoenfeld, N
      Lead poisoning: A new biochemical perspective on the differentiation between acquired and hereditary neuroporphyria

      CLINICAL CHEMISTRY
    9. Christiansen, L; Bygum, A; Kaehne, M; Jensen, A; Horder, M; Petersen, NE
      Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing HPLC

      CLINICAL CHEMISTRY
    10. Lam, CW; Hui, KN; Poon, PMK; Luk, NM; Yuen, YP; Tong, SF; Lai, CK; Chan, YW; Lo, KK
      Novel splicing mutation of the PPOX gene (IVS10+1G -> A) detected by denaturing high-performance liquid chromatography

      CLINICA CHIMICA ACTA
    11. Palmer, RA; Elder, GH; Barrett, DF; Keohane, SG
      Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene

      BRITISH JOURNAL OF DERMATOLOGY
    12. Lamoril, J; Puy, H; Whatley, SD; Martin, C; Woolf, JR; Da Silva, V; Deybach, JC; Elder, GH
      Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Frank, J; Aita, VM; Ahmad, W; Lam, HM; Wolff, C; Christiano, AM
      Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile

      HUMAN HEREDITY
    14. Maeda, N; Horie, Y; Adachi, K; Nanba, E; Kawasaki, H; Daimon, M; Kudo, Y; Kondo, M
      Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria

      JOURNAL OF HUMAN GENETICS
    15. Corrigall, AV; Hift, RJ; Davids, LM; Hancock, V; Meissner, D; Kirsch, RE; Meissner, PN
      Homozygous variegate porphyria in South Africa: Genotypic analysis in two cases

      MOLECULAR GENETICS AND METABOLISM
    16. Pointon, JJ; Wallace, D; Merryweather-Clarke, AT; Robson, KJH
      Uncommon mutations and polymorphisms in the hemochromatosis gene

      GENETIC TESTING
    17. Thadani, H; Deacon, A; Peters, T
      Regular review: Diagnosis and management of porphyria

      BRITISH MEDICAL JOURNAL
    18. Gordon, D; Simonic, I; Ott, J
      Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners

      GENOMICS
    19. Andant, C; Puy, H; Bogard, C; Faivre, J; Soule, JC; Nordmann, Y; Deybach, JC
      Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

      JOURNAL OF HEPATOLOGY
    20. Thunell, S
      Porphyrins, porphyrin metabolism and porphyrias. I. Update

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    21. Thunell, S; Harper, P; Brock, A; Petersen, NE
      Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    22. James, MFM; Hift, RJ
      Porphyrias

      BRITISH JOURNAL OF ANAESTHESIA
    23. Lim, HW; Cohen, JL
      The cutaneous porphyrias

      SEMINARS IN CUTANEOUS MEDICINE AND SURGERY
    24. Frank, J; Nelson, J; Wang, XH; Yang, L; Ahmad, W; Lam, H; Jugert, FK; Kalka, K; Poh-Fitzpatrick, MB; Goerz, G; Merk, HF; Christiano, AM
      Erythropoietic protoporphyria: Identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies

      JOURNAL OF INVESTIGATIVE MEDICINE
    25. de Villiers, JNP; Hillermann, R; Loubser, L; Kotze, MJ
      Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria

      HUMAN MOLECULAR GENETICS
    26. Rooney, RN; Kotze, MJ; de Villiers, JNP; Hillermann, R; Cohen, JA
      Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Wang, XH; Yang, L; Kurtz, L; Lichtin, A; DeLeo, VA; Bloomer, J; Poh-Fitzpatrick, MB
      Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    28. Hindmarsh, JT; Oliveras, L; Greenway, DC
      Plasma porphyrins in the porphyrias

      CLINICAL CHEMISTRY
    29. Hindmarsh, JT; Oliveras, L; Greenway, DC
      Biochemical differentiation of the porphyrias

      CLINICAL BIOCHEMISTRY
    30. Murphy, GM
      The cutaneous porphyrias: a review

      BRITISH JOURNAL OF DERMATOLOGY
    31. Jacobs, NJ; Kruszyna, HG; Hier, JSL; Dayan, FE; Duke, SO; Pont, F; Montforts, FP
      Glutathione-dependent oxidative modification of protoporphyrin and other dicarboxylic porphyrins by mammalian and plant peroxidases

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    32. Frank, J; Christiano, AM
      The genetic bases of the porphyrias

      SKIN PHARMACOLOGY AND APPLIED SKIN PHYSIOLOGY
    33. Frank, J; Christiano, AM
      Variegate porphyria: Past, present and future

      SKIN PHARMACOLOGY AND APPLIED SKIN PHYSIOLOGY
    34. CORRIGALL AV; HIFT RJ; HANCOCK V; MEISSNER D; DAVIDS L; KIRSCH RE; MEISSNER PN
      IDENTIFICATION AND CHARACTERIZATION OF A DELETION (537DELAT) IN THE PROTOPORPHYRINOGEN OXIDASE GENE IN A SOUTH-AFRICAN VARIEGATE PORPHYRIA FAMILY

      Human mutation
    35. KAUPPINEN R
      MANAGEMENT OF THE ACUTE PORPHYRIAS

      Photodermatology, photoimmunology & photomedicine
    36. MURPHY GM
      EVALUATION OF PORPHYRIA

      Photodermatology, photoimmunology & photomedicine
    37. ELDER GH
      UPDATE ON ENZYME AND MOLECULAR DEFECTS IN PORPHYRIA

      Photodermatology, photoimmunology & photomedicine
    38. KOTZE MJ; DEVILLIERS JNP; GROENEWALD JZ; ROONEY RN; LOUBSER O; THIART R; OOSTHUIZEN CJJ; VANNIEKERK MM; GROENEWALD IM; RETIEF AE; WARNICH L
      MOLECULAR ANALYSIS REVEALS A HIGH MUTATION FREQUENCY IN THE FIRST UNTRANSLATED EXON OF THE PPOX GENE AND LARGELY EXCLUDES VARIEGATE PORPHYRIA IN A SUBSET OF CLINICALLY AFFECTED AFRIKANER FAMILIES

      Molecular and cellular probes
    39. BLOOMER JR
      LIVER-METABOLISM OF PORPHYRINS AND HEME

      Journal of gastroenterology and hepatology
    40. POHFITZPATRICK MB
      CLINICAL-FEATURES OF THE PORPHYRIAS

      Clinics in dermatology
    41. ZAIDER E; BICKERS DR
      CLINICAL LABORATORY METHODS FOR DIAGNOSIS OF THE PORPHYRIAS

      Clinics in dermatology
    42. FRANK J; POHFITZPATRICK MB; KING LE; CHRISTIANO AM
      THE GENETIC-BASIS OF SCARSDALE-GOURMET-DIET VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE

      Archives of dermatological research
    43. MARTIN MG
      THE BIOLOGY OF INHERITED DISORDERS OF THE GASTROINTESTINAL-TRACT - PART II - PANCREATIC AND HEPATOBILIARY DISORDERS

      Journal of pediatric gastroenterology and nutrition
    44. Kirsch, RE; Meissner, PN; Hift, RJ
      Variegate porphyria

      SEMINARS IN LIVER DISEASE
    45. Meyer, UA; Schuurmans, MM; Lindberg, RLP
      Acute porphyrias: Pathogenesis of neurological manifestations

      SEMINARS IN LIVER DISEASE
    46. Bonkovsky, HL; Barnard, GF
      Diagnosis of porphyric syndromes: A practical approach in the era of molecular biology

      SEMINARS IN LIVER DISEASE
    47. FRANK J; JUGERT FK; BREITKOPF C; GOERZ G; MERK HF; CHRISTIANO AM
      RECURRENT MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE UNDERLIES VARIEGATE PORPHYRIA

      American journal of medical genetics
    48. FRANK J; LAM H; ZAIDER E; POHFITZPATRICK M; CHRISTIANO AM
      MOLECULAR-BASIS OF VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE

      Journal of Medical Genetics
    49. DAILEY TA; DAILEY HA
      IDENTIFICATION OF AN FAD SUPERFAMILY CONTAINING PROTOPORPHYRINOGEN OXIDASES, MONOAMINE OXIDASES, AND PHYTOENE DESATURASE - EXPRESSION AND CHARACTERIZATION OF PHYTOENE DESATURASE OF MYXOCOCCUS-XANTHUS

      The Journal of biological chemistry
    50. CORRIGALL AV; SIZIBA KB; MANELI MH; SHEPHARD EG; ZIMAN N; DAILEY TA; DAILEY HA; KIRSCH RE; MEISSNER PN
      PURIFICATION OF AND KINETIC-STUDIES ON A CLONED PROTOPORPHYRINOGEN OXIDASE FROM THE AEROBIC BACTERIUM BACILLUS-SUBTILIS

      Archives of biochemistry and biophysics (Print)
    51. SIMONIC I; GERICKE GS; OTT J; WEBER JL
      IDENTIFICATION OF GENETIC-MARKERS ASSOCIATED WITH GILLES-DE-LA-TOURETTE-SYNDROME IN AN AFRIKANER POPULATION

      American journal of human genetics
    52. HARPER P; HYBINETTE T; THUNELL S
      LARGE PHLEBOTOMY IN VARIEGATE PORPHYRIA

      Journal of internal medicine
    53. GORCHEIN A
      DRUG-TREATMENT IN ACUTE PORPHYRIA

      British journal of clinical pharmacology
    54. JENKINS T
      THE MOLECULAR-BASIS OF SOUTH-AFRICAN GENETIC PORPHYRIA ESTABLISHED ATLAST

      South African medical journal
    55. STONE MS
      CENTRAL-FACIAL PAPULAR LYMPHANGIECTASES - AN UNCOMMON MANIFESTATION OF PORPHYRIA

      Journal of the American Academy of Dermatology
    56. DAILEY HA; DAILEY TA
      CHARACTERISTICS OF HUMAN PROTOPORPHYRINOGEN OXIDASE IN CONTROLS AND VARIEGATE PORPHYRIAS

      Cellular and molecular biology
    57. ELDER GH
      HEPATIC PORPHYRIAS IN CHILDREN

      Journal of inherited metabolic disease
    58. ELDER GH; HIFT RJ; MEISSNER PN
      THE ACUTE PORPHYRIAS

      Lancet
    59. DESALAMANCA RE
      HEPATIC ALTERATIONS IN THE PORPHYRIAS

      Medicina Clinica
    60. WANG XH; PIOMELLI S; PEACOCKE M; CHRISTIANO AM; POHFITZPATRICK MB
      ERYTHROPOIETIC PROTOPORPHYRIA - 4 NOVEL FRAMESHIFT MUTATIONS IN THE FERROCHELATASE GENE

      Journal of investigative dermatology
    61. JENKINS T
      THE SOUTH-AFRICAN MALADY

      Nature genetics
    62. DAILEY TA; DAILEY HA
      HUMAN PROTOPORPHYRINOGEN OXIDASE - EXPRESSION, PURIFICATION, AND CHARACTERIZATION OF THE CLONED ENZYME

      Protein science
    63. SASSA S; NAGAI T
      THE ROLE OF HEME IN GENE-EXPRESSION

      International journal of hematology
    64. PUY H; ROBREAU AM; ROSIPAL R; NORDMANN Y; DEYBACH JC
      PROTOPORPHYRINOGEN OXIDASE - COMPLETE GENOMIC SEQUENCE AND POLYMORPHISMS IN THE HUMAN GENE

      Biochemical and biophysical research communications
    65. SNEYD JR; KREIMERBIRNBAUM M; LUST MR; HEFLIN J
      USE OF SUFENTANIL AND ATRACURIUM ANESTHESIA IN A PATIENT WITH ACUTE PORPHYRIA UNDERGOING CORONARY-ARTERY BYPASS-SURGERY

      Journal of cardiothoracic and vascular anesthesia
    66. BEUKEVELD GJJ; BIJLEVELD CMA; KUIPERS F; KREEFTENBERG HG; HUIZENGA JR; VELDE KT; WOLTHERS BG
      EVALUATION AND CLINICAL-APPLICATION OF THE ENTEROTEST(R) FOR THE DETERMINATION OF HUMAN BILIARY PORPHYRIN COMPOSITION

      European journal of clinical chemistry and clinical biochemistry
    67. TAKETANI S; INAZAWA J; ABE T; FURUKAWA T; KOHNO H; TOKUNAGA R; NISHIMURA K; INOKUCHI H
      THE HUMAN PROTOPORPHYRINOGEN OXIDASE GENE (PPOX) - ORGANIZATION AND LOCATION TO CHROMOSOME-1

      Genomics
    68. SCHOENFELD N; MAMET R; DOTAN I; SZTERN M; LEVO Y; ADERKA D
      RELATION BETWEEN UROPORPHYRIN EXCRETION, ACUTE ATTACKS OF HEREDITARY COPROPORPHYRIA AND SUCCESSFUL TREATMENT WITH HEME ARGINATE

      Clinical science
    69. RATNAIKE S; BLAKE D
      THE DIAGNOSIS AND FOLLOW-UP OF PORPHYRIA

      Pathology
    70. DASILVA V; SIMONIN S; DEYBACH JC; PUY H; NORDMANN Y
      VARIEGATE PORPHYRIA - DIAGNOSTIC-VALUE OF FLUOROMETRIC SCANNING OF PLASMA PORPHYRINS

      Clinica chimica acta
    71. DAILEY TA; DAILEY HA; MEISSNER P; PRASAD ARK
      CLONING, SEQUENCE, AND EXPRESSION OF MOUSE PROTOPORPHYRINOGEN OXIDASE

      Archives of biochemistry and biophysics
    72. MCCARROLL NA
      DISEASES OF METABOLISM (PORPHYRIAS)

      Analytical chemistry
    73. CORRIGALL AV; HIFT RJ; ADAMS PA; KIRSCH RE
      INHIBITION OF MAMMALIAN PROTOPORPHYRINOGEN OXIDASE BY ACIFLUORFEN

      Biochemistry and molecular biology international
    74. KAUPPINEN R; TIMONEN K; MUSTAJOKI P
      TREATMENT OF THE PORPHYRIAS

      Annals of medicine
    75. BYNKE G; BYNKE H; LJUNGGREN B
      FAMILIAL IDIOPATHIC INTRACRANIAL HYPERTENSION AND VARIEGATE PORPHYRIA- IS THERE ANY CONNECTION - REPORT OF 3 SISTERS

      Neuro-ophthalmology
    76. SINCLAIR PR; GORMAN N; WALTON HS; SINCLAIR JF; JACOBS JM; JACOBS NJ
      PROTOPORPHYRINOGEN ACCUMULATION IN CULTURED-HEPATOCYTES TREATED WITH THE DIPHENYL HERBICIDE, ACIFLUORFEN

      Cellular and molecular biology
    77. TEFFERI A; COLGAN JP; SOLBERG LA
      ACUTE PORPHYRIAS - DIAGNOSIS AND MANAGEMENT

      Mayo Clinic proceedings
    78. DOVER SB; PLENDERLEITH L; MOORE MR; MCCOLL KEL
      SAFETY OF GENERAL-ANESTHESIA AND SURGERY IN ACUTE HEPATIC PORPHYRIA

      Gut
    79. KRIVOSHEEV BN; LUKINA IL; KOVALENKO LI; KRIVOSHEEV AB
      DOUBLE PORPHYRIAS - REVIEW OF LITERATURE AND A CASE-REPORT

      Terapevticeskij arhiv
    80. HARRISON GG; MEISSNER PN; HIFT RJ
      ANESTHESIA FOR THE PORPHYRIC PATIENT

      Anaesthesia


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Documento generato il 06/06/20 alle ore 13:12:11