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Volumn 38, Issue 7-8, 2009, Pages 1089-1098

Wilson disease;Maladie de Wilson

Author keywords

[No Author keywords available]

Indexed keywords

CHELATING AGENT; COPPER; PENICILLAMINE; TRIENTINE; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN; WILZIN; ZINC DERIVATIVE;

EID: 67649574120     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2008.11.017     Document Type: Short Survey
Times cited : (21)

References (36)
  • 1
    • 67649629773 scopus 로고    scopus 로고
    • Haute Autorité de Santé. Protocole national de diagnostic et de soins. Maladie de Wilson. 2008. http://www.has-sante.fr/portail/jcms/c_640052/ald-n-17-maladie-de-wilson (consulté le 15 janvier 2009).
    • Haute Autorité de Santé. Protocole national de diagnostic et de soins. Maladie de Wilson. 2008. http://www.has-sante.fr/portail/jcms/c_640052/ald-n-17-maladie-de-wilson (consulté le 15 janvier 2009).
  • 2
    • 46249112793 scopus 로고    scopus 로고
    • American association for study of liver diseases (AASLD). Diagnosis and treatment of Wilson disease: an update
    • Roberts E.A., and Schilsky M.L. American association for study of liver diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 47 (2008) 2089-2111
    • (2008) Hepatology , vol.47 , pp. 2089-2111
    • Roberts, E.A.1    Schilsky, M.L.2
  • 3
    • 34447510930 scopus 로고    scopus 로고
    • Function and Regulation of Human Copper-Transporting ATPases
    • Lutsenko S., Barnes N.L., Bartee M.Y., and Dmitriev O.Y. Function and Regulation of Human Copper-Transporting ATPases. Physiol Rev 87 (2007) 1011-1046
    • (2007) Physiol Rev , vol.87 , pp. 1011-1046
    • Lutsenko, S.1    Barnes, N.L.2    Bartee, M.Y.3    Dmitriev, O.Y.4
  • 4
    • 15744392287 scopus 로고    scopus 로고
    • The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum
    • Barnes N., Tsivkovskii R., Tsivkovskaia N., and Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem 280 (2005) 9640-9645
    • (2005) J Biol Chem , vol.280 , pp. 9640-9645
    • Barnes, N.1    Tsivkovskii, R.2    Tsivkovskaia, N.3    Lutsenko, S.4
  • 6
    • 2142755853 scopus 로고    scopus 로고
    • Cu2+ toxicity inhibition of mitochondrial dehydrogenases in vitro and in vivo
    • Sheline C.T., and Choi D.W. Cu2+ toxicity inhibition of mitochondrial dehydrogenases in vitro and in vivo. Ann Neurol 55 (2004) 645-653
    • (2004) Ann Neurol , vol.55 , pp. 645-653
    • Sheline, C.T.1    Choi, D.W.2
  • 7
    • 33644857818 scopus 로고    scopus 로고
    • XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders
    • Mufti A.R., Burstein E., Csomos R.A., Graf P.C., Wilkinson J.C., Dick R.D., et al. XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 21 (2006) 775-785
    • (2006) Mol Cell , vol.21 , pp. 775-785
    • Mufti, A.R.1    Burstein, E.2    Csomos, R.A.3    Graf, P.C.4    Wilkinson, J.C.5    Dick, R.D.6
  • 8
    • 33144475451 scopus 로고    scopus 로고
    • Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice
    • Huster D., Finegold M.J., Morgan C.T., Burkhead J.L., Nixon R., Vanderwerf S.M., et al. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am J Pathol 168 (2006) 423-434
    • (2006) Am J Pathol , vol.168 , pp. 423-434
    • Huster, D.1    Finegold, M.J.2    Morgan, C.T.3    Burkhead, J.L.4    Nixon, R.5    Vanderwerf, S.M.6
  • 9
    • 34247198352 scopus 로고    scopus 로고
    • High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease
    • Huster D., Purnat T.D., Burkhead J.L., Ralle M., Fiehn O., Stuckert F., et al. High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease. J Biol Chem 282 (2007) 8343-8355
    • (2007) J Biol Chem , vol.282 , pp. 8343-8355
    • Huster, D.1    Purnat, T.D.2    Burkhead, J.L.3    Ralle, M.4    Fiehn, O.5    Stuckert, F.6
  • 10
    • 33645821051 scopus 로고    scopus 로고
    • Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperonne HAH1 in copper uptake
    • Achila D., Banci L., Bertini I., Bunce J., Ciofi-Baffoni S., and Huffman D.L. Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperonne HAH1 in copper uptake. Proc Natl Acad Sci USA 103 (2006) 5729-5734
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 5729-5734
    • Achila, D.1    Banci, L.2    Bertini, I.3    Bunce, J.4    Ciofi-Baffoni, S.5    Huffman, D.L.6
  • 12
    • 34548861803 scopus 로고    scopus 로고
    • Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
    • de Bie P., van de Sluis B., Burstein E., van de Berghe P.V., Muller P., Berger R., et al. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 133 (2007) 1316-1326
    • (2007) Gastroenterology , vol.133 , pp. 1316-1326
    • de Bie, P.1    van de Sluis, B.2    Burstein, E.3    van de Berghe, P.V.4    Muller, P.5    Berger, R.6
  • 13
    • 33745825195 scopus 로고    scopus 로고
    • Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease
    • Merle U., Stremmel W., and Gessner R. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease. Arch Neurol 63 (2006) 982-985
    • (2006) Arch Neurol , vol.63 , pp. 982-985
    • Merle, U.1    Stremmel, W.2    Gessner, R.3
  • 14
    • 0033975764 scopus 로고    scopus 로고
    • The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
    • Schiefermeier M., Kollegger H., Madl C., Polli C., Oder W., Kühn H., et al. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 123 (2000) 585-590
    • (2000) Brain , vol.123 , pp. 585-590
    • Schiefermeier, M.1    Kollegger, H.2    Madl, C.3    Polli, C.4    Oder, W.5    Kühn, H.6
  • 18
    • 47549097941 scopus 로고    scopus 로고
    • Kayser-Fleischer ring
    • Suvarna J.C. Kayser-Fleischer ring. J Postgrad Med 54 (2008) 238-240
    • (2008) J Postgrad Med , vol.54 , pp. 238-240
    • Suvarna, J.C.1
  • 19
    • 52449103827 scopus 로고    scopus 로고
    • Late onset Wilson's disease: therapeutic implications
    • Członkowska A., Rodo M., and Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord 23 (2008) 896-898
    • (2008) Mov Disord , vol.23 , pp. 896-898
    • Członkowska, A.1    Rodo, M.2    Gromadzka, G.3
  • 20
    • 17544388130 scopus 로고    scopus 로고
    • Wilson's disease in patients presenting with liver disease: a diagnostic challenge
    • Steindl P., Ferenci P., Dienes H.P., Grimm G., Pabinger I., Madl C., et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 113 (1997) 212-218
    • (1997) Gastroenterology , vol.113 , pp. 212-218
    • Steindl, P.1    Ferenci, P.2    Dienes, H.P.3    Grimm, G.4    Pabinger, I.5    Madl, C.6
  • 21
    • 39749184010 scopus 로고    scopus 로고
    • Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories
    • Twomey P.J., Viljoen A., Reynolds T.M., and Wierzbicki A.S. Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories. J Trace Elem Med Biol 22 (2008) 50-53
    • (2008) J Trace Elem Med Biol , vol.22 , pp. 50-53
    • Twomey, P.J.1    Viljoen, A.2    Reynolds, T.M.3    Wierzbicki, A.S.4
  • 24
    • 0025980294 scopus 로고
    • Comparison of functional and structural brain disturbances in Wilson's disease
    • Grimm G., Prayer L., Oder W., Ferenci P., Madl C., Knoflach P., et al. Comparison of functional and structural brain disturbances in Wilson's disease. Neurology. 41 (1991) 272-276
    • (1991) Neurology. , vol.41 , pp. 272-276
    • Grimm, G.1    Prayer, L.2    Oder, W.3    Ferenci, P.4    Madl, C.5    Knoflach, P.6
  • 25
    • 33646186930 scopus 로고    scopus 로고
    • Clinical correlates of cerebral water diffusion in Wilson disease
    • Favrole P., Chabriat H., Guichard J.P., and Woimant F. Clinical correlates of cerebral water diffusion in Wilson disease. Neurology 66 (2006) 384-389
    • (2006) Neurology , vol.66 , pp. 384-389
    • Favrole, P.1    Chabriat, H.2    Guichard, J.P.3    Woimant, F.4
  • 26
    • 42049112584 scopus 로고    scopus 로고
    • Sequence variation in the ATP-binding domain of the Wilson Disease Transporter, ATP7B affects copper transport in a yeast model system
    • Hsi G., Cullen L.M., Mc Intyre G., Chen M.M., Glerum D.M., and Cox D.W. Sequence variation in the ATP-binding domain of the Wilson Disease Transporter, ATP7B affects copper transport in a yeast model system. Hum Mutat 29 (2008) 4914-5501
    • (2008) Hum Mutat , vol.29 , pp. 4914-5501
    • Hsi, G.1    Cullen, L.M.2    Mc Intyre, G.3    Chen, M.M.4    Glerum, D.M.5    Cox, D.W.6
  • 27
    • 33846024776 scopus 로고    scopus 로고
    • Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study
    • Merle U., Schaefer M., Ferenci P., and Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 56 (2007) 115-120
    • (2007) Gut , vol.56 , pp. 115-120
    • Merle, U.1    Schaefer, M.2    Ferenci, P.3    Stremmel, W.4
  • 28
    • 33645733769 scopus 로고    scopus 로고
    • Treatment of Wilson disease with ammonium tetrathiomolybdate : IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease
    • Brewer G.J., Askari F., Lorincz M.T., Carlson M., Schilsky M., Kluin K.J., et al. Treatment of Wilson disease with ammonium tetrathiomolybdate : IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 63 (2006) 521-527
    • (2006) Arch Neurol , vol.63 , pp. 521-527
    • Brewer, G.J.1    Askari, F.2    Lorincz, M.T.3    Carlson, M.4    Schilsky, M.5    Kluin, K.J.6
  • 29
    • 4644316538 scopus 로고    scopus 로고
    • Treatment of patients with hepatic failure: the difficult place of liver support systems
    • Ichai P., and Samuel D. Treatment of patients with hepatic failure: the difficult place of liver support systems. J Hepatol 41 (2004) 694-695
    • (2004) J Hepatol , vol.41 , pp. 694-695
    • Ichai, P.1    Samuel, D.2
  • 31
    • 25144471713 scopus 로고    scopus 로고
    • Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders
    • Monotematica AISF 2000 OLT study group
    • Medici V., Mirante V.G., Fassati L.R., Pompili M., Forti D., Del Gaudio M., et al., Monotematica AISF 2000 OLT study group. Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders. Liver Transpl 11 (2005) 1056-1063
    • (2005) Liver Transpl , vol.11 , pp. 1056-1063
    • Medici, V.1    Mirante, V.G.2    Fassati, L.R.3    Pompili, M.4    Forti, D.5    Del Gaudio, M.6
  • 32
  • 34
    • 67649627675 scopus 로고    scopus 로고
    • De la clinique à la rééducation pour un trouble de l'écriture dans la maladie de Wilson illustré par un cas clinique
    • Péron-Magnan T., Trocello J.M., Pernon M., de Tassigny A., and Woimant F. De la clinique à la rééducation pour un trouble de l'écriture dans la maladie de Wilson illustré par un cas clinique. Kinésithérapie scientifique 490 (2008) 29-41
    • (2008) Kinésithérapie scientifique , vol.490 , pp. 29-41
    • Péron-Magnan, T.1    Trocello, J.M.2    Pernon, M.3    de Tassigny, A.4    Woimant, F.5
  • 35
    • 67649626833 scopus 로고    scopus 로고
    • Le rôle des psychologues auprès de patients atteints de la maladie de Wilson
    • Gravereaux M., and de Tassigny A. Le rôle des psychologues auprès de patients atteints de la maladie de Wilson. Journal des psychologues 252 (2007) 39-43
    • (2007) Journal des psychologues , vol.252 , pp. 39-43
    • Gravereaux, M.1    de Tassigny, A.2
  • 36
    • 67649627372 scopus 로고    scopus 로고
    • Leyendecker A, Pelosse M, Debray D, Parker S, Fox M, Tanner S et al. Registres sur la maladie de Wilson : de la France à l'Europe. La Lettre du neurologue 2008;12 (Suppl. 3)10:14-5.
    • Leyendecker A, Pelosse M, Debray D, Parker S, Fox M, Tanner S et al. Registres sur la maladie de Wilson : de la France à l'Europe. La Lettre du neurologue 2008;12 (Suppl. 3)10:14-5.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.