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La ricerca find articoli where soggetti phrase all words 'ACUTE INTERMITTENT PORPHYRIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 236 riferimenti
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    1. Kere, J
      Human population genetics: Lessons from Finland

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Elder, GH; Hift, RJ
      Treatment of acute porphyria

      HOSPITAL MEDICINE
    3. Teixeira, PC; Onuki, J; Medeiros, MHG; Dornemann, D; Di Mascio, P
      DNA damage by 3,6-dihydropyrazine-2,5-dipropanoic acid, the cyclic dimerization product of 5-aminolevulinic acid

      BIOLOGICAL CHEMISTRY
    4. Sykes, RM
      Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    5. Forget, F; Awada, A; Klastersky, J
      Anticancer chemotherapy in a patient with prior history of acute intermittent porphyria - A case report and review of the literature

      SUPPORTIVE CARE IN CANCER
    6. Krijt, J; Krijtova, H; Sanitrak, J
      Effect of tiagabine and topiramate on porphyrin metabolism in an in vivo model of porphyria

      PHARMACOLOGY & TOXICOLOGY
    7. Dutra, F; Knudsen, FS; Curi, D; Bechara, EJH
      Aerobic oxidation of aminoacetone, a threonine catabolite: Iron catalysis and coupled iron release from ferritin

      CHEMICAL RESEARCH IN TOXICOLOGY
    8. Chow, KM; Hui, CF; Lam, CW; Morgan, RR; Whatley, SD; Richard, K; Wong, KS
      Clinical and genetic features of variegate porphyria in a Chinese patient

      CHINESE MEDICAL JOURNAL
    9. Kaido, M; Fukada, K; Moriya, M; Abe, K; Sakoda, S; Kondo, M; Yanagihara, T
      Porphyria with double errors in the heme biosynthetic pathway

      JOURNAL OF NEUROLOGY
    10. Downey, D
      Porphyria: the road not traveled

      MEDICAL HYPOTHESES
    11. Qi, WB; Reiter, RJ; Tan, DX; Manchester, LC; Calvo, JR
      Melatonin prevents delta-aminolevulinic acid-induced oxidative DNA damage in the presence of Fe2+

      MOLECULAR AND CELLULAR BIOCHEMISTRY
    12. Millward, LM; Kelly, P; Deacon, A; Senior, V; Peters, TJ
      Self-rated psychosocial consequences and quality of life in the acute porphyrias

      JOURNAL OF INHERITED METABOLIC DISEASE
    13. Gross, P; Madias, NE; Teplan, V; Eckardt, KU; Henschkowski, J
      Treatment of severe hyponatremia

      KIDNEY INTERNATIONAL
    14. Deacon, AC; Elder, GH
      Front line tests for the investigation of suspected porphyria

      JOURNAL OF CLINICAL PATHOLOGY
    15. Lam, CW; Poon, PMK; Tong, SF; Lo, AWI; Lai, CK; Choi, KL; Tiu, SC; Chan, YW; Shek, CC
      Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC

      CLINICAL CHEMISTRY
    16. 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
    17. 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
    18. Yu, S; Poulos, V; Stewart, P
      A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria

      JOURNAL OF HUMAN GENETICS
    19. 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
    20. Gatti, G; Bonomi, I; Jannuzzi, G; Perucca, E
      The new antiepileptic drugs: Pharmacological and clinical aspects

      CURRENT PHARMACEUTICAL DESIGN
    21. Bylesjo, I; Forsgren, L; Wetterberg, L
      Melatonin and epileptic seizures in patients with acute intermittent porphyria

      EPILEPTIC DISORDERS
    22. Androutsos, G; Geroulanos, S
      Acute intermittent porphyria: a new hypothesis to explain Jean-Jacques Rousseau's urinary disorders (1712-1788).

      PROGRES EN UROLOGIE
    23. Ramdall, RB; Cunha, L; Astrin, KH; Katz, DR; Anderson, KE; Glucksman, M; Bottomley, SS; Desnick, RJ
      Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

      GENETICS IN MEDICINE
    24. Wolff, C; Krause, P; Puig, A; Parraguez, A; Armas, R
      Carbohydrate metabolism in porphyria

      JOURNAL OF PORPHYRINS AND PHTHALOCYANINES
    25. Rocha, MEM; Bandy, B; Costa, CA; de Barros, MP; Pinto, AMP; Bechara, EJH
      Iron mobilization by succinylacetone methyl ester in rats. A model study for hereditary tyrosinemia and porphyrias characterized by 5-aminolevulinic acid overload

      FREE RADICAL RESEARCH
    26. Thadani, H; Deacon, A; Peters, T
      Regular review: Diagnosis and management of porphyria

      BRITISH MEDICAL JOURNAL
    27. Andersson, C; Wikberg, A; Stegmayr, B; Lithner, F
      Renal symptomatology in patients with acute intermittent porphyria. A population-based study

      JOURNAL OF INTERNAL MEDICINE
    28. Wikberg, A; Andersson, C; Lithner, F
      Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria

      JOURNAL OF INTERNAL MEDICINE
    29. Lithner, F
      Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina?

      JOURNAL OF INTERNAL MEDICINE
    30. Sassa, S; Kappas, A
      Molecular aspects of the inherited porphyrias

      JOURNAL OF INTERNAL MEDICINE
    31. Komatsu, K; Shimosegawa, T; Uchi, M; Maruhama, Y; Toyota, T
      Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis

      JOURNAL OF GASTROENTEROLOGY
    32. Perucca, E; Beghi, E; Dulac, O; Shorvon, S; Tomson, T
      Assessing risk to benefit ratio in antiepileptic drug therapy

      EPILEPSY RESEARCH
    33. Rocha, MEM; Ferreira, AMDC; Bechara, EJH
      Roles of phosphate and an enoyl radical in ferritin iron mobilization by 5-aminolevulinic acid

      FREE RADICAL BIOLOGY AND MEDICINE
    34. Gurer, H; Ercal, N
      Can antioxidants be beneficial in the treatment of lead poisoning?

      FREE RADICAL BIOLOGY AND MEDICINE
    35. Doss, MO; Kuhnel, A; Gross, U
      Alcohol and porphyrin metabolism

      ALCOHOL AND ALCOHOLISM
    36. Wikberg, A; Jansson, L; Lithner, F
      Women's experience of suffering repeated severe attacks of acute intermittent porphyria

      JOURNAL OF ADVANCED NURSING
    37. Karbownik, M; Reiter, RJ; Garcia, JJ; Tan, DX; Qi, WB; Manchester, LC
      Melatonin reduces rat hepatic macromolecular damage due to oxidative stress caused by delta-aminolevulinic acid

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    38. Jara-Prado, A; Yescas, P; Sanchez, FJ; Rios, C; Garnica, R; Alonso, E
      Prevalence of acute intermittent porphyria in a Mexican psychiatric population

      ARCHIVES OF MEDICAL RESEARCH
    39. 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
    40. Gross, U; Hoffmann, GF; Doss, MO
      Erythropoietic and hepatic porphyrias

      JOURNAL OF INHERITED METABOLIC DISEASE
    41. Estrov, Y; Scaglia, F; Bodamer, OAF
      Psychiatric symptoms of inherited metabolic disease

      JOURNAL OF INHERITED METABOLIC DISEASE
    42. Galstyan, GM; Shulutko, EM; Bulanov, AY; Prasolov, NV; Kulimova, EB; Kuzmina, LA; Tyurina, NG; Pustovoit, YS; Model, SV
      Atypical electrolyte disturbances in patients with systemic blood diseases

      TERAPEVTICHESKII ARKHIV
    43. Thunell, S
      Porphyrins, porphyrin metabolism and porphyrias. I. Update

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    44. 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
    45. Petersen, NE; Kaehne, M; Christiansen, L; Brock, A; Hother-Nielsen, O; Rasmussen, K
      DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations inDNA from Danish patients with hereditary coproporphyria

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    46. Erlandsen, EJ; Jorgensen, PE; Markussen, S; Brock, A
      Determination of porphobilinogen deaminase activity in human erythrocytes:pertinent factors in obtaining optimal conditions for measurements

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    47. Jorgensen, PE; Erlandsen, EJ; Poulsen, SS; Markussen, S; Koch, C; Brock, A
      Activity and immunohistochemical localization of porphobilinogen deaminasein rat tissues

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    48. Andersson, C; Floderus, Y; Wikberg, A; Lithner, F
      The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    49. Karbownik, M; Tan, DX; Reiter, RJ
      Melatonin reduces the oxidation of nuclear DNA and membrane lipids inducedby the carcinogen delta-aminolevulinic acid

      INTERNATIONAL JOURNAL OF CANCER
    50. Maeda, N; Horie, Y; Sasaki, Y; Adachi, K; Nanba, E; Nishida, K; Saigo, R; Nakagawa, M; Kawasaki, H; Kudo, Y; Kondo, M
      Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria

      CLINICAL BIOCHEMISTRY
    51. Fernandez-Miranda, C; De la Calle, M; Larumbe, S; Gomez-Izquierdo, T; Porres, A; Gomez-Gerique, J; de Salamanca, RE
      Lipoprotein abnormalities in patients with asymptomatic acute porphyria

      CLINICA CHIMICA ACTA
    52. James, MFM; Hift, RJ
      Porphyrias

      BRITISH JOURNAL OF ANAESTHESIA
    53. Balla, J; Balla, G; Jeney, V; Kakuk, G; Jacob, HS; Vercellotti, GM
      Ferriporphyrins and endothelium: a 2-edged sword - promotion of oxidation and induction of cytoprotectants

      BLOOD
    54. Di Mascio, P; Teixeira, PC; Onuki, J; Medeiros, MHG; Dornemann, D; Douki, T; Cadet, J
      DNA damage by 5-aminolevulinic and 4,5-dioxovaleric acids in the presence of ferritin

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    55. Sarantopoulos, CD; Bratanow, NC; Stowe, DF; Kampine, JP
      Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema

      ANESTHESIOLOGY
    56. Schneider-Yin, X; Bogard, C; Rufenacht, UB; Puy, H; Nordmann, Y; Minder, EI; Deybach, JC
      Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria

      HUMAN HEREDITY
    57. Vogeser, M; Jacob, K; Zachoval, R
      Urinary porphyrin excretion in hepatitis C infection

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    58. Ummus, RE; Onuki, J; Dornemann, D; Medeiros, MHG; Di Mascio, P
      Measurement of 4,5-dioxovaleric acid by high-performance liquid chromatography and fluorescence detection

      JOURNAL OF CHROMATOGRAPHY B
    59. Fernandez-Cuartero, B; Rebollar, JL; Batlle, A; de Salamanca, RE
      Delta aminolevulinate dehydratase (ALA-D) activity in human and experimental diabetes mellitus

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    60. 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
    61. Mustajoki, S; Ahola, H; Mustajoki, P; Kauppinen, R
      Insertion of Alu element responsible for acute intermittent porphyria

      HUMAN MUTATION
    62. Rosipal, R; Lamoril, J; Puy, H; Da Silva, V; Gouya, L; De Rooij, FWM; Te Velde, K; Nordmann, Y; Martasek, P; Deybach, JC
      Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

      HUMAN MUTATION
    63. Andersson, C; Bylesjo, I; Lithner, F
      Effects of diabetes mellitus on patients with acute intermittent porphyria

      JOURNAL OF INTERNAL MEDICINE
    64. Alioua, C; Patel, A; Bakir, AA
      Co-existence of systemic lupus erythematosus and severe hepatic porphyria

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    65. Sasaki, H
      A new approach for the treatment of acute porphyria

      INTERNAL MEDICINE
    66. Yamamori, I; Asai, M; Tanaka, F; Muramoto, A; Hasegawa, H
      Prevention of premenstrual exacerbation of hereditary coproporphyria by gonadotropin-releasing hormone analogue

      INTERNAL MEDICINE
    67. Gross, U; Puy, H; Doss, M; Robreau, AM; Nordmann, Y; Doss, MO; Deybach, JC
      New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

      MOLECULAR AND CELLULAR PROBES
    68. Doss, MO; Kuhnel, A; Gross, U; Sieg, I
      Hepatic porphyrias and alcohol

      MEDIZINISCHE KLINIK
    69. Gordon, N
      The acute porphyrias

      BRAIN & DEVELOPMENT
    70. Chandra, R; Aneja, R; Sharma, A; Tiwari, M
      Retinoic acid in association with tin-metalloporphyrins influences heme metabolism in vivo in rats

      INTERNATIONAL JOURNAL FOR VITAMIN AND NUTRITION RESEARCH
    71. Gazzaniga, V
      Uroporphyria: Some notes on its ancient historical background

      AMERICAN JOURNAL OF NEPHROLOGY
    72. Nordmann, Y; Puy, H; Deybach, JC
      Hepatic porphyrias.

      REVUE DE MEDECINE INTERNE
    73. De Siervi, A; Rossetti, MV; Parera, VE; Astrin, KH; Aizencang, GI; Glass, IA; Batlle, AMD; Desnick, RJ
      Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Budhoo, MR; Mitchell, S; Roberts, I; Eddlestone, J; MacLennan, I
      Sickle cell trait and acute intermittent porphyria leading to small bowel infarction

      JOURNAL OF THE ROYAL COLLEGE OF SURGEONS OF EDINBURGH
    75. Susa, S; Daimon, M; Morita, Y; Kitagawa, M; Hirata, A; Manaka, H; Sasaki, H; Kato, T
      Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis

      NEURORADIOLOGY
    76. Lindberg, RLP; Martini, R; Baumgartner, M; Erne, B; Borg, J; Zielasek, J; Ricker, K; Steck, A; Toyka, KV; Meyer, UA
      Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria

      JOURNAL OF CLINICAL INVESTIGATION
    77. McLean, MJ
      Gabapentin in the management of convulsive disorders

      EPILEPSIA
    78. Hindmarsh, JT; Oliveras, L; Greenway, DC
      Biochemical differentiation of the porphyrias

      CLINICAL BIOCHEMISTRY
    79. Maeda, N; Horie, Y; Sasaki, Y; Ueta, E; Adachi, K; Nanba, E; Kawasaki, H; Kudo, Y; Kondo, M
      A splicing mutation in the hydroxymethylbilane synthase gene in a Japanesefamily with acute intermittent porphyria

      CLINICAL BIOCHEMISTRY
    80. De Siervi, A; Rossetti, MV; Parera, VE; Mendez, M; Varela, LS; Batlle, AMD
      Acute intermittent porphyria: Biochemical and clinical analysis in the Argentinean population

      CLINICA CHIMICA ACTA
    81. Tchernitchko, D; Lamoril, J; Puy, H; Robreau, AM; Bogard, C; Rosipal, R; Gouya, L; Deybach, JC; Nordmann, Y
      Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

      CLINICA CHIMICA ACTA
    82. Mattern, SET; Tefferi, A
      Acute porphyria: The cost of suspicion

      AMERICAN JOURNAL OF MEDICINE
    83. Linet, MS; Gridley, G; Nyren, O; Mellemkjaer, L; Olsen, JH; Keehn, S; Adami, HO; Fraumeni, JF
      Primary liver cancer, other malignancies, and mortality risks following porphyria: A cohort study in Denmark and Sweden

      AMERICAN JOURNAL OF EPIDEMIOLOGY
    84. Frank, J; Christiano, AM
      The genetic bases of the porphyrias

      SKIN PHARMACOLOGY AND APPLIED SKIN PHYSIOLOGY
    85. Petrides, PE
      Acute intermittent porphyria: Mutation analysis and identification of genecarriers in a German kindred by PCR-DGGE analysis

      SKIN PHARMACOLOGY AND APPLIED SKIN PHYSIOLOGY
    86. NAGUIB M; MAGBOUL MMA; JAROUDI R
      ADVERSE-EFFECTS OF GENERAL-ANESTHETICS - INCIDENCE AND THERAPEUTIC IMPLICATIONS

      CNS drugs
    87. ROGAN PK; FAUX BM; SCHNEIDER TD
      INFORMATION ANALYSIS OF HUMAN SPLICE-SITE MUTATIONS

      Human mutation
    88. ZADRA M; GRANDI R; ERLI LC; MIRABILE D; BRAMBILLA A
      TREATMENT OF SEIZURES IN ACUTE INTERMITTENT PORPHYRIA - SAFETY AND EFFICACY OF GABAPENTIN

      Seizure (London)
    89. HERMAN MA; WEBBER J; FROMM D; KESSEL D
      HEMODYNAMIC-EFFECTS OF 5-AMINOLEVULINIC ACID IN HUMANS

      Journal of photochemistry and photobiology.B, Biology
    90. KAUPPINEN R
      MANAGEMENT OF THE ACUTE PORPHYRIAS

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

      Photodermatology, photoimmunology & photomedicine
    92. DOUKI T; ONUKI J; MEDEIROS MHG; BECHARA EJH; CADET J; DIMASCIO P
      DNA ALKYLATION BY 4,5-DIOXOVALERIC ACID, THE FINAL OXIDATION-PRODUCT OF 5-AMINOLEVULINIC ACID

      Chemical research in toxicology
    93. ONG PML; LANYON WG; MOORE MR; CONNOR JM
      ACUTE INTERMITTENT PORPHYRIA - ALTERNATIVE SPLICING OF HYDROXYMETHYLBILANE SYNTHASE MESSENGER-RNA EXCLUDES EXON-3 AND EXON-12

      Molecular and cellular probes
    94. CARNEIRO RCG; REITER RJ
      DELTA-AMINOLEVULINIC ACID-INDUCED LIPID-PEROXIDATION IN RAT-KIDNEY AND LIVER IS ATTENUATED BY MELATONIN - AN IN-VITRO AND IN-VIVO STUDY

      Journal of pineal research
    95. PRINC FG; MAXIT AG; CARDALDA C; BATLLE A; JUKNAT AA
      IN-VIVO PROTECTION BY MELATONIN AGAINST DELTA-AMINOLEVULINIC ACID-INDUCED OXIDATIVE DAMAGE AND ITS ANTIOXIDANT EFFECT ON THE ACTIVITY OF HEME ENZYMES

      Journal of pineal research
    96. MOORE MR
      THE BIOCHEMISTRY OF HEME-SYNTHESIS IN PORPHYRIA AND IN THE PORPHYRINURIAS

      Clinics in dermatology
    97. ELDER GH
      GENETIC-DEFECTS IN THE PORPHYRIAS - TYPES AND SIGNIFICANCE

      Clinics in dermatology
    98. SASSA S; FURUYAMA K
      HOW GENETIC-DEFECTS ARE IDENTIFIED

      Clinics in dermatology
    99. HINDMARSH JT
      ENZYME ASSAYS AND THE PORPHYRIAS - WHICH TISSUES AND WHEN INDICATED

      Clinics in dermatology
    100. KALMAN DR; BONKOVSKY HL
      MANAGEMENT OF ACUTE ATTACKS IN THE PORPHYRIAS

      Clinics in dermatology


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Documento generato il 01/06/20 alle ore 22:43:07