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La ricerca find articoli where soggetti phrase all words 'WILSON DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 389 riferimenti
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    1. Mercer, JFB
      The molecular basis of copper-transport diseases

      TRENDS IN MOLECULAR MEDICINE
    2. Hall, MA; Moshkov, IE; Novikova, GV; Mur, LAJ; Smith, AR
      Ethylene signal perception and transduction: multiple paradigms?

      BIOLOGICAL REVIEWS
    3. Linder, MC
      Copper and genomic stability in mammals

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    4. Jung, CG; Miyamoto, T; Tsumagari, T; Agui, T
      Genetic association between low expression phenotype of CD62L (L-selectin)in peripheral CD4(+) T cells and the thid (T-helper immunodeficiency) phenotype in the LEC rat

      EXPERIMENTAL ANIMALS
    5. Yamamoto, H; Watanabe, T; Mizuno, H; Endo, K; Fukushige, J; Hosokawa, T; Kazusaka, A; Fujita, S
      The antioxidant effect of DL-alpha-lipoic acid on copper-induced acute hepatitis in Long-Evans Cinnamon (LEC) rats

      FREE RADICAL RESEARCH
    6. Palsson, R; Jonasson, JG; Kristjansson, M; Bodvarsson, A; Goldin, RD; Cox, DW; Olafsson, S
      Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    7. Nanji, M; Coronado, VA; Cox, DW
      ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis

      MAMMALIAN GENOME
    8. Coronado, V; Nanji, M; Cox, DW
      The Jackson toxic milk mouse as a model for copper loading

      MAMMALIAN GENOME
    9. Portala, K; Westermark, K; Ekselius, L; von Knorring, L
      Personality traits in treated Wilson's disease determined by means of the Karolinska Scales of Personality (KSP)

      EUROPEAN PSYCHIATRY
    10. Hayashi, M; Kuge, T; Endoh, D; Nakayama, K; Arikawa, J; Takazawa, A; Okui, T
      No significant differences were observed in the amounts of DNA strand breaks produced by copper between male and female liver cells of Long-Evans Cinnamon (LEC) strain rats

      JOURNAL OF VETERINARY MEDICAL SCIENCE
    11. Ishikawa, S; Nomoto, S; Yoshida, K; Tokuda, T; Ikeda, S
      Trientine increases fecal copper excretion in Wilson's disease: A case report

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    12. Brewer, GJ
      Commentary: Landmark articles on copper in the field of human health

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    13. Pourahmad, J; Ross, S; O'Brien, PJ
      Lysosomal involvement in hepatocyte cytotoxicity induced by Cu2+ but not Cd2+

      FREE RADICAL BIOLOGY AND MEDICINE
    14. Svetel, M; Kozic, D; Stefanova, E; Semnic, R; Dragasevic, N; Kostic, VS
      Dystonia in Wilson's disease

      MOVEMENT DISORDERS
    15. Strausak, D; Mercer, JFB; Dieter, HH; Stremmel, W; Multhaup, G
      Copper in disorders with neurological symptoms: Alzheimer's, Menkes, and Wilson diseases

      BRAIN RESEARCH BULLETIN
    16. Watt, NT; Hooper, NM
      The response of neurones and glial cells to elevated copper

      BRAIN RESEARCH BULLETIN
    17. Barthel, H; Sorger, D; Kuhn, HJ; Wagner, A; Kluge, R; Hermann, W
      Differential alteration of the nigrostriatal dopaminergic system in Wilson's disease investigated with [I-123]beta-CIT and high-resolution SPET

      EUROPEAN JOURNAL OF NUCLEAR MEDICINE
    18. Furman, B; Bashiri, A; Wiznitzer, A; Erez, O; Holcberg, G; Mazor, M
      Wilson's disease in pregnancy: five successful consecutive pregnancies of the same woman

      EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
    19. van Mil, SWC; Klomp, LWJ; Bull, LN; Houwen, RHJ
      FIC1 disease: A spectrum of intrahepatic cholestatic disorders

      SEMINARS IN LIVER DISEASE
    20. Michel, M; Lafaurie, M; Noel, V; Pico, L; Bastie, A; Godeau, B; Schaeffer, A
      Acute hemolytic anemia as the first manifestation of Wilson's disease: report of two cases.

      REVUE DE MEDECINE INTERNE
    21. Jonas, L; Fulda, G; Salameh, T; Schmidt, W; Kroning, GE; Hopt, UT; Nizze, H
      Electron microscopic detection of copper in the liver of two patients withmorbus Wilson by EELS and EDX

      ULTRASTRUCTURAL PATHOLOGY
    22. Kobayashi, S; Ochiai, T; Hori, S; Suzuki, T; Shimizu, T; Gunji, Y; Shimada, H; Yamamoto, S; Ogawa, A; Kohno, Y; Sunaga, A; Shimazu, A; Tanaka, K
      Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor

      HEPATO-GASTROENTEROLOGY
    23. Reich, DE; Lander, ES
      On the allelic spectrum of human disease

      TRENDS IN GENETICS
    24. Caca, K; Ferenci, P; Kuhn, HJ; Polli, C; Willgerodt, H; Kunath, B; Hermann, W; Mossner, J; Berr, F
      High prevalence of the H1069Q mutation in East German patients with Wilsondisease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis

      JOURNAL OF HEPATOLOGY
    25. Najda, J; Stella-Holowiecka, B; Machalski, M
      Low-dose zinc administration as an effective Wilson's disease treatment

      BIOLOGICAL TRACE ELEMENT RESEARCH
    26. Morita, A; Abdireyim, D; Kimura, M; Itokawa, Y
      The effect of aging on the mineral status of female SAMP1 and SAMR1

      BIOLOGICAL TRACE ELEMENT RESEARCH
    27. Orth, M; Schapira, AHV
      Mitochondria and degenerative disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Firneisz, G; Woller, J; Ferenci, P; Szalay, F
      Postcremation diagnosis from an electric shaver

      LANCET
    29. Huffman, DL; O'Halloran, TV
      Function, structure, and mechanism of intracellular copper trafficking proteins

      ANNUAL REVIEW OF BIOCHEMISTRY
    30. Karabanov, AV; Ovchinnikov, IV; Illarioshkin, SN; Poleschuk, VV; Slominsky, PA; Markova, ED; Rebrova, OY; Limborskaya, SA; Ivanova-Smolenskaya, IA
      Analysis of mutations in ATP7B gene and experience of the direct DNA-diagnosis in hepatolenticular degeneration

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    31. Axelsen, KB; Palmgren, MG
      Inventory of the superfamily of P-type ion pumps in Arabidopsis

      PLANT PHYSIOLOGY
    32. Andrews, NC
      Mining copper transport genes

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    33. Kuo, YM; Zhou, B; Cosco, D; Gitschier, J
      The copper transporter CTR1 provides an essential function in mammalian embryonic development

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    34. Lee, LW; Prohaska, JR; Thiele, DJ
      Essential role for mammalian copper transporter Ctr1 in copper homeostasisand embryonic development

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    35. Perretti, A; Pellecchia, MT; Lanzillo, B; Campanella, G; Santoro, L
      Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    36. Narayanan, VS; Fitch, CA; Levenson, CW
      Tumor suppressor protein p53 mRNA and subcellular localization are alteredby changes in cellular copper in human Hep G2 cells

      JOURNAL OF NUTRITION
    37. Tagawa, A; Ono, S; Shibata, M; Imai, T; Suzuki, M; Shimizu, N
      A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    38. Nicholl, DJ; Ferenci, P; Polli, C; Burdon, MB; Pall, HS
      Wilson's disease presenting in a family with an apparent dominant history of tremor

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    39. Jordan, IK; Natale, DA; Koonin, EV; Galperin, MY
      Independent evolution of heavy metal-associated domains in copper chaperones and copper-transporting ATPases

      JOURNAL OF MOLECULAR EVOLUTION
    40. Wang, A; Cortas, N; Edelman, IS
      Mg-dependent, Zn-ATPase: Enzymatic characteristics, ion specificities and tissue distribution

      JOURNAL OF MEMBRANE BIOLOGY
    41. Arnesano, F; Banci, L; Bertini, I; Cantini, F; Ciofi-Baffoni, S; Huffman, DL; O'Halloran, TV
      Characterization of the binding interface between the copper chaperone Atx1 and the first cytosolic domain of Ccc2 ATPase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    42. Voskoboinik, I; Mar, J; Strausak, D; Camakaris, J
      The regulation of catalytic activity of the menkes copper-translocating P-type ATPase - Role of high affinity copper-binding sites

      JOURNAL OF BIOLOGICAL CHEMISTRY
    43. Banci, L; Bertini, I; Ciofi-Baffoni, S; Huffman, DL; O'Halloran, TV
      Solution structure of the yeast copper transporter domain Ccc2a in the apoand Cu(I)-loaded states

      JOURNAL OF BIOLOGICAL CHEMISTRY
    44. Durand, F; Bernuau, J; Giostra, E; Mentha, G; Shouval, D; Degott, C; Benhamou, JP; Valla, D
      Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine

      GUT
    45. Bal, N; Mintz, E; Guillain, F; Catty, P
      A possible regulatory role for the metal-binding domain of CadA, the Listeria monocytogenes Cd2+-ATPase

      FEBS LETTERS
    46. Bain, BJ
      The spherocytic haemolytic anaemias

      BRITISH JOURNAL OF HAEMATOLOGY
    47. Prella, M; Baccala, R; Horisberger, JD; Belin, D; Di Raimondo, F; Invernizzi, R; Garozzo, R; Schapira, M
      Haemolytic onset of Wilson disease in a patient with homozygous truncationof ATP7B at Arg1319

      BRITISH JOURNAL OF HAEMATOLOGY
    48. Kawano, H; Takeuchi, Y; Yoshimoto, K; Matsumoto, K; Sugimoto, T
      Histological changes in monoaminergic neurons of Long-Evans Cinnamon rats

      BRAIN RESEARCH
    49. Mitra, B; Sharma, R
      The cysteine-rich amino-terminal domain of ZntA, a Pb(II)/Zn(II)/Cd(II)-translocating ATPase from Escherichia coli, is not essential for its function

      BIOCHEMISTRY
    50. Fan, B; Grass, G; Rensing, C; Rosen, BP
      Escherichia coli CopA N-terminal Cys(X)(2)Cys motifs are not required for copper resistance or transport

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    51. Voskoboinik, I; Greenough, M; La Fontaine, S; Mercer, JFB; Camakaris, J
      Functional studies on the Wilson copper P-type ATPase and toxic milk mousemutant

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    52. Sayer, JA; Pearce, SHS
      Diagnosis and clinical biochemistry of inherited tubulopathies

      ANNALS OF CLINICAL BIOCHEMISTRY
    53. Shishido, N; Nakayama, K; Takazawa, A; Ohyama, T; Nakamura, M
      Cu-metallothioneins (Cu(I)(8)-MTs) in LEC rat livers 13 weeks after birth still act as antioxidants

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    54. Aburto, EM; Cribb, AE; Fuentealba, C
      Effect of chronic exposure to excess dietary copper and dietary selenium supplementation on liver specimens from rats

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    55. Rosenzweig, AC
      Copper delivery by metallochaperone proteins

      ACCOUNTS OF CHEMICAL RESEARCH
    56. Balint, G; Szebenyi, B
      Hereditary disorders mimicking and/or causing premature osteoarthritis

      BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
    57. Lee, CC; Wu, JY; Tsai, FJ; Kodama, H; Abe, T; Yang, CF; Tsai, CH
      Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

      JOURNAL OF HUMAN GENETICS
    58. Kusuda, Y; Hamaguchi, K; Mori, T; Shin, R; Seike, M; Sakata, T
      Novel mutations of the ATP7B gene in Japanese patients with Wilson disease

      JOURNAL OF HUMAN GENETICS
    59. Ba, Y; Tonoki, H; Tada, M; Nakata, D; Hamada, J; Moriuchi, T
      Transcriptional slippage of p53 gene enhanced by cellular damage in rat liver: monitoring the slippage by a yeast functional assay

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    60. Rodo, M; Czonkowska, A; Pulawska, M; Swiderska, M; Tarnacka, B; Wehr, H
      The level of serum lipids, vitamin E and low density lipoprotein oxidationin Wilson's disease patients

      EUROPEAN JOURNAL OF NEUROLOGY
    61. Tarnacka, B; Gromadzka, G; Rodo, M; Mierzejewski, P; Czloonkowska, A
      Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's disease population

      EUROPEAN JOURNAL OF NEUROLOGY
    62. Muramatsu, Y; Yamada, T; Moralejo, DH; Mochizuki, H; Sogawa, K; Matsumoto, K
      Increased polyploid incidence is associated with abnormal copper accumulation in the liver of LEC mutant rat

      RESEARCH COMMUNICATIONS IN MOLECULAR PATHOLOGY AND PHARMACOLOGY
    63. Wernimont, AK; Huffman, DL; Lamb, AL; O'Halloran, TV; Rosenzweig, AC
      Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins

      NATURE STRUCTURAL BIOLOGY
    64. Okada, T; Shiono, Y; Hayashi, H; Satoh, H; Sawada, T; Suzuki, A; Takeda, Y; Yano, M; Michitaka, K; Onji, M; Mabuchi, H
      Mutational analysis of ATP7B and genotype - Phenotype correlation in Japanese with Wilson's disease

      HUMAN MUTATION
    65. Woeste, KE; Kieber, JJ
      A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype

      PLANT CELL
    66. Olsson, C; Waldenstrom, E; Westermark, K; Landegren, U; Syvanen, AC
      Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

      EUROPEAN JOURNAL OF HUMAN GENETICS
    67. Rinaldi, AC
      Meeting report - Copper research at the top

      BIOMETALS
    68. Agui, T; Miyamoto, T; Jung, CG; Tsumagari, T; Masuda, K; Manabe, T
      Genetic linkage analysis of X-ray hypersensitivity in the LEC mutant rat

      MAMMALIAN GENOME
    69. Brewer, GJ
      Raulin Award Lecture: Wilson's disease therapy with zinc and tetrathiomolybdate

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    70. Milkiewicz, P; Saksena, S; Hubscher, SG; Elias, E
      Wilson's disease with superimposed autoimmune features: Report of two cases and review

      JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
    71. Fuentealba, IC; Mullins, JE; Aburto, EM; Lau, JC; Cherian, GM
      Effect of age and sex on liver damage due to excess dietary copper in Fischer 344 rats

      JOURNAL OF TOXICOLOGY-CLINICAL TOXICOLOGY
    72. Lee, J; Prohaska, JR; Dagenais, SL; Glover, TW; Thiele, DJ
      Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutant

      GENE
    73. Fan, YX; Yu, L; Jiang, Y; Xu, YF; Yang, RM; Han, YZ; Cui, YY; Ren, MS; Zhao, SY
      Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing

      CHINESE MEDICAL JOURNAL
    74. Wu, ZY; Wang, N; Murong, SX; Lin, MT
      Identification and analysis of mutations of the Wilson disease gene in Chinese population

      CHINESE MEDICAL JOURNAL
    75. Sugawara, N; Sugawara, C
      Competition between copper and silver in Fischer rats with a normal coppermetabolism and in Long-Evans Cinnamon rats with an abnormal copper metabolism

      ARCHIVES OF TOXICOLOGY
    76. Stuerenburg, HJ
      CSF copper concentrations, blood-brain barrier function, and coeruloplasmin synthesis during the treatment of Wilson's disease

      JOURNAL OF NEURAL TRANSMISSION
    77. Storch, WB
      Morbus Wilson

      LEBER MAGEN DARM
    78. Olivares, M; Araya, M; Uauy, R
      Copper homeostasis in infant nutrition: Deficit and excess

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    79. Loudianos, G; Gitlin, JD
      Wilson's disease

      SEMINARS IN LIVER DISEASE
    80. Harris, ED
      Cellular copper transport and metabolism

      ANNUAL REVIEW OF NUTRITION
    81. Genovese, E; Maghnie, M; Magiore, G; Tinelli, C; Lizzoli, F; De Giacomo, C; Pozza, S; Campani, R
      MR imaging of CNS involvement in children affected by chronic liver disease

      AMERICAN JOURNAL OF NEURORADIOLOGY
    82. Jones, RJ; Lewis, SJ; Smith, JM; Neuberger, J
      Undetectable serum caeruloplasmin in a woman with chronic hepatitis C infection

      JOURNAL OF HEPATOLOGY
    83. Klein, D; Lichtmannegger, J; Heinzmann, U; Summer, KH
      Dissolution of copper-rich granules in hepatic lysosomes by D-penicillamine prevents the development of fulminant hepatitis in Long-Evens cinnamon rats

      JOURNAL OF HEPATOLOGY
    84. Lockhart, PJ; Mercer, JFB
      Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    85. Sarkar, B
      Copper transport and its defect in Wilson disease: characterization of thecopper-binding domain of Wilson disease ATPase

      JOURNAL OF INORGANIC BIOCHEMISTRY
    86. Ogra, Y; Chikusa, H; Suzuki, KT
      Metabolic fate of the insoluble copper/tetrathiomolybdate complex formed in the liver of LEC rats with excess tetrathiomolybdate

      JOURNAL OF INORGANIC BIOCHEMISTRY
    87. Bruehlmeier, M; Leenders, KL; Vontobel, P; Calonder, C; Antonini, A; Weindl, A
      Increased cerebral iron uptake in Wilson's disease: A Fe-52-citrate PET study

      JOURNAL OF NUCLEAR MEDICINE
    88. Tsymbalenko, NV; Platonova, NA; Puchkova, LV; Mokshina, SV; Sasina, LK; Skvortsova, NN; Mishchenko, BS; Egorov, TA; Gaitskhoki, VS
      The identification of the ceruloplasmin region interacting with the coppertransferring Menkes ATPase

      BIOORGANICHESKAYA KHIMIYA
    89. Eide, DJ
      Metal ion transport in eukaryotic microorganisms: Insights from Saccharomyces cerevisiae

      ADVANCES IN MICROBIAL PHYSIOLOGY, VOL 43
    90. Cauza, E; Ulrich-Pur, H; Polli, C; Gangl, A; Ferenci, P
      Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria

      WIENER KLINISCHE WOCHENSCHRIFT
    91. Daimon, M; Susa, S; Ohizumi, T; Moriai, S; Kawanami, T; Hirata, A; Yamaguchi, H; Ohnuma, H; Igarashi, M; Kato, T
      A novel mutation of the ceruloplasmin gene in a patient with heteroallelicceruloplasmin gene mutation (HypoCPGM)

      TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
    92. Morrison, ED; Kowdley, KV
      Genetic liver disease in adults - Early recognition of the three most common causes

      POSTGRADUATE MEDICINE
    93. Hirayama, T; Alonso, JM
      Ethylene captures a metal! Metal ions are involved in ethylene perception and signal transduction

      PLANT AND CELL PHYSIOLOGY
    94. Suzuki, KT; Ogura, Y
      Biological regulation of copper and selective removal of copper: Therapy for Wilson disease and its molecular mechanism

      YAKUGAKU ZASSHI-JOURNAL OF THE PHARMACEUTICAL SOCIETY OF JAPAN
    95. Hermann, W; Tietze, F; Villmann, T; Grahmann, F; Wagner, A
      Clinical and fine motor evaluation of patients with Wilson's disease

      NERVENARZT
    96. Hussain, SP; Raja, K; Amstad, PA; Sawyer, M; Trudel, LJ; Wogan, GN; Hofseth, LJ; Shields, PG; Billiar, TR; Trautwein, C; Hohler, T; Galle, PR; Phillips, DH; Markin, R; Marrogi, AJ; Harris, CC
      Increased p53 mutation load in nontumorous human liver of Wilson disease and hemochromatosis: Oxyradical overload diseases

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    97. Rensing, C; Fan, B; Sharma, R; Mitra, B; Rosen, BP
      CopA: An Escherichia coli Cu(I)-translocating P-type ATPase

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    98. Majumdar, R; Al Jumah, M; Al Rajeh, S; Fraser, M; Al Zaben, A; Awada, A; Al Traif, I; Paterson, M
      A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    99. Satishchandra, P; Naik, KR
      Visual pathway abnormalities in Wilson's disease: an electrophysiological study using electroretinography and visual evoked potentials

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    100. Gaffney, D; Fell, GS; O'Reilly, DS
      Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring

      JOURNAL OF CLINICAL PATHOLOGY


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Documento generato il 15/08/20 alle ore 01:50:03