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    1. Jenkins, JF; Prows, C; Dimond, E; Monsen, R; Williams, J
      Recommendations for educating nurses in genetics

      JOURNAL OF PROFESSIONAL NURSING
    2. Brandhagen, DJ
      Liver transplantation for hereditary hemochromatosis

      LIVER TRANSPLANTATION
    3. Anderson, GJ
      Ironing out disease: Inherited disorders of iron homeostasis

      IUBMB LIFE
    4. Torreggiani, WC; Liu, DM; Lyburn, ID; Rowley, VA; Munk, PI
      Serendipitous computed tomographic diagnosis of an underlying cause for diabetes mellitus

      HOSPITAL MEDICINE
    5. Stewart, SF; Day, CP
      Liver disorder and the HFE locus

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    6. Bassett, ML
      Haemochromatosis: iron still matters

      INTERNAL MEDICINE JOURNAL
    7. Yapp, TR; Eijkelkamp, EJ; Powell, LW
      Population screening for HFE-associated haemochromatosis: should we have to pay for our genes?

      INTERNAL MEDICINE JOURNAL
    8. Enns, CA
      Pumping iron: the strange partnership of the hemochromatosis protein, a class I MHC homolog, with the transferrin receptor

      TRAFFIC
    9. De Freitas, JM; Meneghini, R
      Iron and its sensitive balance in the cell

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    10. Aisen, P; Enns, C; Wessling-Resnick, M
      Chemistry and biology of eukaryotic iron metabolism

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    11. Hetet, G; Grandchamp, B; Bouchier, C; Nicaud, V; Tiret, L; Roizes, G; Desnos, M; Schwartz, K; Dorent, R; Komajda, M
      Idiopathic dilated cardiomyopathy: lack of association with haemochromatosis gene in the CARDIGENE study

      HEART
    12. Shehab, TM; Sonnad, SS; Lok, ASF
      Management of hepatitis C patients by primary care physicians in the USA: results of a national survey

      JOURNAL OF VIRAL HEPATITIS
    13. Brudieux, E; de Ledinghen, V; Moran, MJ; Fontanellas, A; Oui, B; Trimoulet, P; Belleannee, G; Piton, A; Raymond, JM; Doutre, MS; Amouretti, M; de Verneuil, H; Couzigou, P
      Hepatic porphyrin concentration and uroporphyrinogen decarboxylase activity in hepatitis C virus infection

      JOURNAL OF VIRAL HEPATITIS
    14. Monge, L; Pinach, S; Caramellino, L; Bertero, MT; Dall'Omo, A; Carta, Q
      The possible role of autoimmunity in the pathogenesis of diabetes in beta-thalassemia major

      DIABETES & METABOLISM
    15. Jorquera, F; Dominguez, A; Diaz-Golpe, V; Espinel, J; Munoz, F; Herrera, A; Fernandez-Gundin, MJ; Vivas, S; Olcoz, JL
      C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    16. Gradilla, PR; Martinez, AV; Arquero, MF; Garcia-Agundez, JA; Fernandez, FAG; Rodriguez, JB; Diaz-Rubio, M; de la Concha, EG; Quesada, JML
      C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    17. Serrano, AG; Igea, FJG; Jimenez, JAL; Gil, SP; Reina, AG
      Hepatitis C virus infection, increased serum ferritin and hyperinsulinemia

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    18. Barton, JC; Acton, RT
      Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency

      GENETICS IN MEDICINE
    19. Grody, WW; Desnick, RJ
      Cystic fibrosis population carrier screening: Here at last-Are we ready?

      GENETICS IN MEDICINE
    20. Brown, AS; Gwinn, M; Cogswell, ME; Khoury, MJ
      Hemochromatosis-associated morbidity in the United States: An analysis of the National Hospital Discharge Survey, 1979-1997

      GENETICS IN MEDICINE
    21. Martin, WL; West, AP; Gan, L; Bjorkman, PJ
      Crystal structure at 2.8 angstrom of an FcRn/heterodimeric Fc complex: Mechanism of pH-dependent binding

      MOLECULAR CELL
    22. Power, TE; Adams, PC
      Psychosocial impact of C282Y mutation testing for hemochromatosis

      GENETIC TESTING
    23. Byrnes, V; Ryan, E; Barrett, S; Kenny, P; Mayne, P; Crowe, J
      Genetic hemochromatosis, a Celtic disease: Is it now time for population screening?

      GENETIC TESTING
    24. Medintz, I; Wong, WW; Berti, L; Shiow, L; Tom, J; Scherer, J; Sensabaugh, G; Mathies, RA
      High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates

      GENOME RESEARCH
    25. Reyes, M; Imperatore, G
      Iron loading and disease surveillance

      EMERGING INFECTIOUS DISEASES
    26. Papanikolaou, G; Politou, M; Roetto, A; Bosio, S; Sakelaropoulos, N; Camaschella, C; Loukopoulos, D
      Linkage to chromosome 1q in Greek families with juvenile hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    27. Zanella, A; Bianchi, P; Iurlo, A; Boschetti, C; Taioli, E; Vercellati, C; Zappa, M; Fermo, E; Tavazzi, D; Sampietro, M
      Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: Study of Italian cases

      BLOOD CELLS MOLECULES AND DISEASES
    28. Fargion, S; Stazi, MA; Fracanzani, AL; Mattioli, M; Sampietro, M; Tavazzi, D; Bertelli, C; Patriarca, V; Mariani, C; Fiorelli, G
      Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma

      BLOOD CELLS MOLECULES AND DISEASES
    29. Sachot, S; Moirand, R; Jouanolle, AM; Mosser, J; Fergelot, P; Deugnier, Y; Brissot, P; le Gall, JY; David, V
      Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region

      BLOOD CELLS MOLECULES AND DISEASES
    30. Lee, PL; Halloran, C; Beutler, E
      Polymorphisms in the transferrin 5 ' flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis

      BLOOD CELLS MOLECULES AND DISEASES
    31. Lucotte, G
      Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    32. Sanchez, M; Bruguera, M; Rodes, J; Oliva, R
      Complete characterization of the 3 ' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms

      BLOOD CELLS MOLECULES AND DISEASES
    33. Kotze, MJ; de Villiers, JNP; Rooney, RN; Grobbelaar, JJ; Mansvelt, EPG; Bouwens, CSH; Carr, J; Stander, I; du Plessis, L
      Analysis of the NRAMP1 gene implicated in iron transport: Association withmultiple sclerosis and age effects

      BLOOD CELLS MOLECULES AND DISEASES
    34. Barton, EH; West, PA; Rivers, CA; Barton, JC; Acton, RG
      Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload

      BLOOD CELLS MOLECULES AND DISEASES
    35. Lee, PL; Halloran, C; West, C; Beutler, E
      Mutation analysis of the transferrin receptor-2 gene in patients with ironoverload

      BLOOD CELLS MOLECULES AND DISEASES
    36. Aguilar-Martinez, P; Esculie-Coste, C; Bismuth, M; Giansily-Blaizot, M; Larrey, D; Schved, JF
      Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    37. Beutler, E
      Commentary: Mutations of transferrin receptor 2 (Trf-2) and iron storage disease

      BLOOD CELLS MOLECULES AND DISEASES
    38. Andrikovics, H; Kalmar, L; Bors, A; Fandl, B; Petri, I; Kalasz, L; Tordai, A
      Genotype screening for hereditary hemochromatosis among voluntary blood donors in hungary

      BLOOD CELLS MOLECULES AND DISEASES
    39. Beutler, E; West, C; Speir, JA; Wilson, IA; Worley, M
      The HFE gene of browsing and grazing rhinoceroses: A possible site of adaptation to a low-iron diet

      BLOOD CELLS MOLECULES AND DISEASES
    40. Nunez, MT; Tapia, V; Toyokuni, S; Okada, S
      Iron-induced oxidative damage in colon carcinoma (Caco-2) cells

      FREE RADICAL RESEARCH
    41. Stollberger, C; Molzer, G; Finsterer, J
      Seroprevalence of antibodies to microorganisms known to cause arterial andmyocardial damage in patients with or without coronary stenosis

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    42. Gochee, PA; Powell, LW
      What's new in hemochromatosis

      CURRENT OPINION IN HEMATOLOGY
    43. Njajou, OT; Vaessen, N; Joosse, M; Berghuis, B; van Dongen, JWF; Breuning, MH; Snijders, PJLM; Rutten, WPF; Sandkuijl, LA; Oostra, BA; van Duijn, CM; Heutink, P
      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

      NATURE GENETICS
    44. Fenzi, A; Bortolazzi, M; Marzola, P; Colombari, R
      In vivo investigation of hepatic iron overload in rats using T2 maps: Quantification at high intensity field (4.7-T)

      JOURNAL OF MAGNETIC RESONANCE IMAGING
    45. von Kempis, J
      Arthropathy in hereditary hemochromatosis

      CURRENT OPINION IN RHEUMATOLOGY
    46. Pozzato, G; Zorat, F; Nascimben, F; Gregorutti, M; Comar, C; Baracetti, S; Vatta, S; Bevilacqua, E; Belgrano, A; Crovella, S; Amoroso, A
      Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry

      EUROPEAN JOURNAL OF HUMAN GENETICS
    47. Jensen, PD; Jensen, FT; Christensen, T; Heickendorff, L; Jensen, LG; Ellegaard, J
      Indirect evidence for the potential ability of magnetic resonance imaging to evaluate the myocardial iron content in patients with transfusional ironoverload

      MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE
    48. Takeda, A; Takatsuka, K; Connor, JR; Oku, N
      Abnormal iron delivery to the bone marrow in neonatal hypotransferrinemic mice

      BIOMETALS
    49. Sunyaev, S; Ramensky, V; Koch, I; Lathe, W; Kondrashov, AS; Bork, P
      Prediction of deleterious human alleles

      HUMAN MOLECULAR GENETICS
    50. Roy, CN; Andrews, NC
      Recent advances in disorders of iron metabolism: mutations, mechanisms andmodifiers

      HUMAN MOLECULAR GENETICS
    51. Thenie, AC; Gicquel, IM; Hardy, S; Ferran, H; Fergelot, P; Le Gall, JY; Mosser, J
      Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene

      HUMAN MOLECULAR GENETICS
    52. Nolte, E; Beck, E; Winklhofer, C; Steinhausen, C
      Compartmental model for aluminium biokinetics

      HUMAN & EXPERIMENTAL TOXICOLOGY
    53. Emery, C; Rose, P
      Hereditary haemochromatosis: never seen a case?

      BRITISH JOURNAL OF GENERAL PRACTICE
    54. Evans, JP; Skrzynia, C; Burke, W
      The complexities of predictive genetic testing

      BRITISH MEDICAL JOURNAL
    55. Jensen, PD; Heickendorff, L; Carlson, I; Jensen, FT; Christensen, T; Ellegaard, J
      Expression of CD2 and activation markers on blood T-helper cell subsets inpatients with transfusional iron overload

      TRANSFUSION MEDICINE
    56. Sullivan, JL
      Misconceptions in the debate on the iron hypothesis

      JOURNAL OF NUTRITIONAL BIOCHEMISTRY
    57. Van Vlierberghe, H; Delanghe, JR; De Bie, S; Praet, M; De Paepe, A; Messiaen, L; De Vos, M; Leroux-Roels, G
      Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    58. Hamer, OW; Gnad, M; Scholmerich, J; Palitzsch, KD
      Successful treatment of erectile dysfunction and infertility by venesection in a patient with primary haemochromatosis

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    59. Giannini, E; Mastracci, L; Botta, F; Romagnoli, P; Fasoli, A; Risso, D; Faravelli, F; Ceppa, P; Lantieri, PB; Icardi, GC; Testa, R
      Liver iron accumulation in chronic hepatitis C patients without HFE mutations: relationships with histological damage, viral load and genotype and alpha-glutathione S-transferase levels

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    60. Klevay, LM
      Iron overload can induce mild copper deficiency

      JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
    61. Tannapfel, A; Stolzel, U; Kostler, E; Melz, S; Richter, M; Keim, V; Schuppan, D; Wittekind, C
      C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    62. Kim, MJ; Mitchell, DG; Ito, K; Hann, HWL; Park, YN; Kim, PN
      Hepatic iron deposition on MR imaging in patients with chronic liver disease: correlation with serial serum ferritin concentration

      ABDOMINAL IMAGING
    63. Bauduer, F; Scribans, C; Renoux, M; Borot, N
      Genetic hemochromatosis is a rare disease entity among French Basques: a center-based study from the General Hospital of Basque Country

      ANNALS OF HEMATOLOGY
    64. Lu, JY; Chang, CC; Tsai, HC; Lin, KS; Tsang, YM; Huang, KM
      Diabetic ketoacidosis and hypogonadotropic hypogonadism in association with transfusional hemochromatosis in a man with beta-thalassemia major

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    65. Pigeon, C; Legrand, P; Leroyer, P; Bouriel, M; Turlin, B; Brissot, P; Loreal, O
      Stearoyl coenzyme A desaturase 1 expression and activity are increased in the liver during iron overload

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    66. Shiono, Y; Ikeda, R; Hayashi, H; Wakusawa, S; Sanae, F; Takikawa, T; Imaizumi, Y; Yano, M; Yoshioka, K; Kawanaka, M; Yamada, G
      C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan

      INTERNAL MEDICINE
    67. Porto, G; Cardoso, CS; Gordeuk, V; Cruz, E; Fraga, J; Areias, J; Oliveira, JC; Bravo, F; Gangaidzo, IT; MacPhail, AP; Gomo, ZAR; Moyo, VM; Melo, G; Silva, C; Justica, B; de Sousa, M
      Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload

      EUROPEAN JOURNAL OF HAEMATOLOGY
    68. Milman, N; Byg, KE; Mulvad, G; Pedersen, HS; Bjerregaard, P
      Iron status markers in 224 indigenous Greenlanders: influence of age, residence and traditional foods

      EUROPEAN JOURNAL OF HAEMATOLOGY
    69. Conrad, ME
      Iron: Seminal publications of the twentieth century - Haemochromatosis

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    70. Nordberg, G; Sandstrom, B; Becking, G; Goyer, RA
      Essentiality and toxicity of trace elements: Principles and methods for assessment of risk from human exposure to essential trace elements (Reprintedfrom Journal of Trace Elements in Experimental Medicine, vol 13, pg 141-153, 2000)

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    71. Ahn, J; Won, TW; Zia, A; Reutter, H; Kaplan, DE; Sparks, R; Gruen, JR
      Peaks of linkage are localized by a BAC/PAC contig of the 6p reading disability locus

      GENOMICS
    72. Igloi, GL
      Simultaneous identification of mutations by dual-parameter multiplex hybridization in peptide nucleic acid-containing virtual arrays

      GENOMICS
    73. Rouault, TA
      Systemic iron metabolism: A review and implications for brain iron metabolism

      PEDIATRIC NEUROLOGY
    74. Newman, B
      Blood donor suitability and allogeneic whole blood donation

      TRANSFUSION MEDICINE REVIEWS
    75. Natsheh, SE; Roberts, EA; Ngan, B; Chait, P; Ng, VL
      Liver failure with marked hyperferritinemia: 'Ironing out' the diagnosis

      CANADIAN JOURNAL OF GASTROENTEROLOGY
    76. Cadet, E; Warin, R; Perez, AS; Rochette, J; Capron, D
      The rusty genotypes

      M S-MEDECINE SCIENCES
    77. Brissot, P
      Hemochromatosis at the intersection of classical medicine and molecular biology

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    78. Emerit, J; Beaumont, C; Trivin, F
      Iron metabolism, free radicals, and oxidative injury

      BIOMEDICINE & PHARMACOTHERAPY
    79. Eshed, I; Elis, A; Lishner, M
      Plasma ferritin and type 2 diabetes mellitus: A critical review

      ENDOCRINE RESEARCH
    80. Gentry-Nielsen, MJ; Preheim, LC; Lyman, KN; McDonough, KH; Potter, BJ
      Use of rat models to mimic alterations in iron homeostasis during human alcohol abuse and cirrhosis

      ALCOHOL
    81. Whittaker, P; Tufaro, PR; Rader, JI
      Iron and folate in fortified cereals

      JOURNAL OF THE AMERICAN COLLEGE OF NUTRITION
    82. Parlist, P; Mikelsaar, AV; Tasa, G; Beckman, L
      The frequency of C282Y and H63D mutations in Hemochromatosis gene in native Estonians

      EUROPEAN JOURNAL OF EPIDEMIOLOGY
    83. Ines, LS; da Silva, JAP; Malcata, AB; Porto, AL
      Arthropathy of genetic hemochromatosis: A major and distinctive manifestation of the disease

      CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
    84. Franchini, M; Gandini, G; Girelli, D; Lippi, G; de Gironcoli, M; Aprili, G
      Association of phlebotomy and subcutaneous bolus injection of deferoxaminefor the treatment of anemic patients with iron overload

      HAEMATOLOGICA
    85. Trombini, P; Mauri, V; Salvioni, A; Corengia, C; Arosio, C; Piperno, A
      S65C frequency in Italian patients with hemochromatosis, porphyria cutaneatarda and chronic viral hepatitis with iron overload

      HAEMATOLOGICA
    86. Gaa, A; Wirth, C; Wassmer, B; Schaefer, HE; Fisch, P
      Critical commentary to hepatic failure with neonatal tissue siderosis of hematochromatotic type in an infant presenting with meconium ileus by C. Sergi et al. (in : Pathol. Res. Pract.197/10 : 699-709, 2001)

      PATHOLOGY RESEARCH AND PRACTICE
    87. Douabin-Gicquel, V; Soriano, N; Ferran, H; Wojcik, F; Palierne, E; Tamim, S; Jovelin, T; McKie, AT; Le Gall, JY; David, V; Mosser, J
      Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared witha systematic sequencing approach

      HUMAN GENETICS
    88. Kury, S; Devilder, MC; Avet-Loiseau, H; Dreno, B; Moisan, JP
      Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica

      HUMAN GENETICS
    89. Devlin, B; Roeder, K; Otto, C; Tiobech, S; Byerley, W
      Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania

      HUMAN GENETICS
    90. de Nanclares, GP; Castano, L; Martul, P; Rica, I; Vela, A; Sanjurjo, P; Aldamiz-Echevarria, K; Martinez, R; Sarrionandia, MJ
      Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    91. Mete, A; Dorrestein, GM; Marx, JJM; Lemmens, AG; Beynen, AC
      A comparative study of iron retention in mynahs, doves and rats

      AVIAN PATHOLOGY
    92. Sarkany, RPE
      The management of porphyria cutanea tarda

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    93. O'Toole, D; Kelly, EJ; McAllister, MM; Layton, AW; Norrdin, RW; Russell, WC; Saeb-Parsy, K; Walker, AP
      Hepatic failure and hemochromatosis of Salers and Salers-cross cattle

      VETERINARY PATHOLOGY
    94. Alvarez, S; Mesa, MS; Bandres, F; Arroyo, E
      C282Y and H63D mutation frequencies in a population from central Spain

      DISEASE MARKERS
    95. Mortele, KJ; Ros, PR
      Imaging of diffuse liver disease

      SEMINARS IN LIVER DISEASE
    96. Saxena, R; Shetty, K; Berk, PD
      A 37-year-old male with hepatomegaly, neurologic and skin involvement associated with elevated urinary porphyrin excretion - Alcoholic liver disease with steatosis, steatonecrosis, and micronodular cirrhosis.

      SEMINARS IN LIVER DISEASE
    97. Baig, NA; Herrine, SK; Rubin, R
      Liver disease and diabetes mellitus

      CLINICS IN LABORATORY MEDICINE
    98. Tavill, AS
      Diagnosis and management of hemochromatosis

      HEPATOLOGY
    99. Fracanzani, AL; Conte, D; Fraquelli, M; Taioli, E; Mattioli, M; Losco, A; Fargion, S
      Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease

      HEPATOLOGY
    100. Sinclair, PR; Gorman, N; Walton, HS; Bement, WJ; Sinclair, JF; Gerhard, GS; Szakacs, JG; Andrews, NC; Levy, JE
      Uroporphyria in HFE mutant mice given 5-aminolevulinate: A new model of Fe-mediated porphyria cutanea tarda

      HEPATOLOGY


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Documento generato il 31/05/20 alle ore 07:17:46