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Volumn 12, Issue 4, 2014, Pages 683-689

Long-term Outcomes of Patients With Wilson Disease in a Large Austrian Cohort

Author keywords

Genetic liver disease; Inherited liver disease; Mortality; Population

Indexed keywords

CERULOPLASMIN; COPPER; WILSON DISEASE PROTEIN;

EID: 84896064958     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cgh.2013.09.025     Document Type: Article
Times cited : (144)

References (23)
  • 1
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
    • Wilson S.A.K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912, 34:295-509.
    • (1912) Brain , vol.34 , pp. 295-509
    • Wilson, S.A.K.1
  • 2
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi R.E., Petrukhin K., Chernov I., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet 1993, 5:344-350.
    • (1993) Nature Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 3
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to Menkes gene
    • Bull P.C., Thomas G.R., Forbes J., Rommens J.M., et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to Menkes gene. Nature Genet 1993, 5:327-337.
    • (1993) Nature Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Forbes, J.3    Rommens, J.M.4
  • 4
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi Y., Heiny M.E., Gitlin J.D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993, 197:271-277.
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 5
    • 0028869945 scopus 로고
    • The Wilson disease gene: spectrum of mutations and their consequences
    • Thomas G.R., Forbes J.R., Roberts E.A., et al. The Wilson disease gene: spectrum of mutations and their consequences. Nature Genet 1995, 9:210-217.
    • (1995) Nature Genet , vol.9 , pp. 210-217
    • Thomas, G.R.1    Forbes, J.R.2    Roberts, E.A.3
  • 6
    • 16944366995 scopus 로고    scopus 로고
    • Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
    • Shah A.B., Chernov I., Zhang Hat, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997, 61:317-328.
    • (1997) Am J Hum Genet , vol.61 , pp. 317-328
    • Shah, A.B.1    Chernov, I.2    Zhang, H.3
  • 7
    • 84866851288 scopus 로고    scopus 로고
    • Identification of a novel Wilson disease gene mutation frequent in Upper-Austria: a genetic and clinical study
    • Hofer H., Willheim-Polli C., Knoflach P., et al. Identification of a novel Wilson disease gene mutation frequent in Upper-Austria: a genetic and clinical study. JHum Genet 2012, 57:654-657.
    • (2012) JHum Genet , vol.57 , pp. 654-657
    • Hofer, H.1    Willheim-Polli, C.2    Knoflach, P.3
  • 8
    • 84857342910 scopus 로고    scopus 로고
    • EASL clinical practice guidelines: Wilson's disease
    • EASL clinical practice guidelines: Wilson's disease. JHepatol 2012, 56:671-685.
    • (2012) JHepatol , vol.56 , pp. 671-685
  • 9
    • 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., et al. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007, 56:115-120.
    • (2007) Gut , vol.56 , pp. 115-120
    • Merle, U.1    Schaefer, M.2    Ferenci, P.3
  • 10
    • 0142029450 scopus 로고    scopus 로고
    • Diagnosis and phenotypic classification of Wilson disease
    • Final report of the proceedings of the work party at the 8th international meeting on Wilson disease and Menkes disease; Leipzig/Germany, 2001. Liver Int
    • Ferenci P, Caca K, Loudianos G, etal. Diagnosis and phenotypic classification of Wilson disease. Final report of the proceedings of the work party at the 8th international meeting on Wilson disease and Menkes disease; Leipzig/Germany, 2001. Liver Int 2003;23:139-143.
    • (2003) , vol.23 , pp. 139-143
    • Ferenci, P.1    Caca, K.2    Loudianos, G.3
  • 11
    • 23644446858 scopus 로고    scopus 로고
    • Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease
    • Ferenci P., Steindl-Munda P., Vogel W., et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease. Clin Gastroenterol Hepatol 2005, 3:811-818.
    • (2005) Clin Gastroenterol Hepatol , vol.3 , pp. 811-818
    • Ferenci, P.1    Steindl-Munda, P.2    Vogel, W.3
  • 12
    • 84896080912 scopus 로고    scopus 로고
    • Available at: Accessed January 31,.
    • Available at: Accessed January 31,2013. http://www.statistik.at/web_de/statistiken/bevoelkerung/demographische_masszahlen/sterbetafeln.
    • (2013)
  • 14
    • 0026076817 scopus 로고
    • Wilson disease: clinical presentation, treatment and survival
    • Stremmel W., Meyerrose K.W., Niederau C., et al. Wilson disease: clinical presentation, treatment and survival. Ann Intern Med 1991, 115:720-726.
    • (1991) Ann Intern Med , vol.115 , pp. 720-726
    • Stremmel, W.1    Meyerrose, K.W.2    Niederau, C.3
  • 15
    • 34247567771 scopus 로고    scopus 로고
    • Wilson disease: description of 282 patients evaluated over 3 decades
    • Taly A.B., Meenakshi-Sundaram S., Sinha S., et al. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine 2007, 82:112-121.
    • (2007) Medicine , vol.82 , pp. 112-121
    • Taly, A.B.1    Meenakshi-Sundaram, S.2    Sinha, S.3
  • 16
    • 79957626884 scopus 로고    scopus 로고
    • Wilson's disease in southern Brazil: a 40-year follow-up study
    • Bem R.S., Muzzillo D.A., Deguti M.M., et al. Wilson's disease in southern Brazil: a 40-year follow-up study. Clinics 2011, 66:411-416.
    • (2011) Clinics , vol.66 , pp. 411-416
    • Bem, R.S.1    Muzzillo, D.A.2    Deguti, M.M.3
  • 17
    • 79953166064 scopus 로고    scopus 로고
    • Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease
    • Weiss K.H., Gotthardt D.N., Klemm D., et al. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology 2011, 149:1189-1198.
    • (2011) Gastroenterology , vol.149 , pp. 1189-1198
    • Weiss, K.H.1    Gotthardt, D.N.2    Klemm, D.3
  • 18
    • 84880610768 scopus 로고    scopus 로고
    • Efficacy and safety of oral chelators in treatment of patients with Wilson disease
    • Weiss K.H., Thurik F., Gotthardt D.N., et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastronterol Hepatol 2013, 11:1028-1035.
    • (2013) Clin Gastronterol Hepatol , vol.11 , pp. 1028-1035
    • Weiss, K.H.1    Thurik, F.2    Gotthardt, D.N.3
  • 19
    • 0028941793 scopus 로고
    • Copper-induced acute rhabdomyolysis in Wilson's disease
    • Probst A., Probst Th, Feichtinger H., et al. Copper-induced acute rhabdomyolysis in Wilson's disease. Gastroenterology 1995, 108:885-887.
    • (1995) Gastroenterology , vol.108 , pp. 885-887
    • Probst, A.1    Probst, T.2    Feichtinger, H.3
  • 20
    • 79551718663 scopus 로고    scopus 로고
    • Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults
    • Arnon R., Annunziato R., Schilsky M., et al. Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. Clin Transplant 2011, 25:E52-E60.
    • (2011) Clin Transplant , vol.25
    • Arnon, R.1    Annunziato, R.2    Schilsky, M.3
  • 21
    • 78650146642 scopus 로고    scopus 로고
    • Long-term follow-up of Wilsons disease: natural history, treatment, mutations analysis and phenotypic correlation
    • Bruha R., Marecek Z., Pospisilova L., et al. Long-term follow-up of Wilsons disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2010, 31:83-91.
    • (2010) Liver Int , vol.31 , pp. 83-91
    • Bruha, R.1    Marecek, Z.2    Pospisilova, L.3
  • 22
    • 66749140322 scopus 로고    scopus 로고
    • Long-term outcome in Serbian patients with Wilson disease
    • Svetel M., Pekmezovic T., Petrovic I., et al. Long-term outcome in Serbian patients with Wilson disease. Euro J Neurol 2009, 16:852-857.
    • (2009) Euro J Neurol , vol.16 , pp. 852-857
    • Svetel, M.1    Pekmezovic, T.2    Petrovic, I.3
  • 23
    • 20844462076 scopus 로고    scopus 로고
    • Wilson's disease - cause of mortality in 164 patients during 1992-2003 observation period
    • Czlonkowska A., Tarnacka B., Litwin T., et al. Wilson's disease - cause of mortality in 164 patients during 1992-2003 observation period. JNeurol 2005, 252:698-703.
    • (2005) JNeurol , vol.252 , pp. 698-703
    • Czlonkowska, A.1    Tarnacka, B.2    Litwin, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.