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Volumn 23, Issue 3, 2003, Pages 139-142

Diagnosis and phenotypic classification of Wilson disease

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

EID: 0142029450     PISSN: 14783223     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0676.2003.00824.x     Document Type: Review
Times cited : (793)

References (17)
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    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes disease gene
    • Bull P, Thomas G R, Forbes J, Rommens J M, Cox D W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes disease gene. Nature Genet 1993; 5: 327-37.
    • (1993) Nature Genet. , vol.5 , pp. 327-337
    • Bull, P.1    Thomas, G.R.2    Forbes, J.3    Rommens, J.M.4    Cox, D.W.5
  • 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. Nat Genet 1993; 5: 344-50.
    • (1993) Nat. Genet. , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 3
    • 0142106788 scopus 로고    scopus 로고
    • Wilson disease mutation database. Available at the web site: www.medgen.med.ualberta.ca/database.html. Curators: Kenney S, Cox DW
    • Wilson disease mutation database. Available at the web site: www.medgen.med.ualberta.ca/database.html. Curators: Kenney S, Cox DW.
  • 5
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase. Genomic organization, alternative splicing, and structure/function predictions
    • Petrukhin K, Lutsenko S, Chernov I, Ross B M, Kaplan J H, Gilliam T C. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994; 3: 1647-56.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.M.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 6
    • 0030871471 scopus 로고    scopus 로고
    • Detection of the His 1069Gln mutation in Wilson disease by rapid polymerase chain reaction
    • Maier-Dobersberger T, Ferenci P, Polli C, et al. Detection of the His 1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med 1997; 127: 21-6.
    • (1997) Ann. Intern. Med. , vol.127 , pp. 21-26
    • Maier-Dobersberger, T.1    Ferenci, P.2    Polli, C.3
  • 7
    • 0032793169 scopus 로고    scopus 로고
    • Molecular analysis and diagnosis in Japanese patients with Wilson's disease
    • Shimizu N, Nakazono H. Takeshita Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int 1999; 41: 409-13.
    • (1999) Pediatr. Int. , vol.41 , pp. 409-413
    • Shimizu, N.1    Nakazono, H.2    Takeshita, Y.3
  • 9
    • 17544388130 scopus 로고    scopus 로고
    • Wilson's disease in patients presenting with liver disease: A diagnostic challenge
    • Steindl P, Ferenci P, Dienes H P, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-8.
    • (1997) Gastroenterology , vol.113 , pp. 212-218
    • Steindl, P.1    Ferenci, P.2    Dienes, H.P.3
  • 10
    • 0026535178 scopus 로고
    • Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
    • Da Costa C M, Baldwin D, Portmann B, Lolin Y, Mowat A P, Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992; 15: 609-15.
    • (1992) Hepatology , vol.15 , pp. 609-615
    • Da Costa, C.M.1    Baldwin, D.2    Portmann, B.3    Lolin, Y.4    Mowat, A.P.5    Mieli-Vergani, G.6
  • 11
  • 13
    • 0142043278 scopus 로고    scopus 로고
    • Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease
    • Ferenci P, Jessner W, Munda-Steindl P, Wrba F. Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease. Hepatology 2002; 36: 338A.
    • (2002) Hepatology , vol.36
    • Ferenci, P.1    Jessner, W.2    Munda-Steindl, P.3    Wrba, F.4
  • 14
    • 0035171548 scopus 로고    scopus 로고
    • High Prevalence of the H1069Q mutation in East German patients with Wilson Disease. Rapid detection of mutations by limited sequencing and phenotype-genotype analysis
    • Caca K. Ferenci P, Kühn H J, et al. High Prevalence of the H1069Q mutation in East German patients with Wilson Disease. Rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001; 35: 575-81.
    • (2001) J. Hepatol. , vol.35 , pp. 575-581
    • Caca, K.1    Ferenci, P.2    Kühn, H.J.3
  • 16
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    • Plasma ceruloplasmin as screening test for Wilson's disease
    • Cauza E, Maier-Dobersberger Th, Ferenci P. Plasma ceruloplasmin as screening test for Wilson's disease. J Hepatol 1997; 27: 358-62.
    • (1997) J. Hepatol. , vol.27 , pp. 358-362
    • Cauza, E.1    Maier-Dobersberger, Th.2    Ferenci, P.3
  • 17
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    • Molecular advances in Wilson disease
    • Cox D. Molecular advances in Wilson disease. In: Progress in Liver Disease, 1996; pp. 245-63.
    • (1996) Progress in Liver Disease , pp. 245-263
    • Cox, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.