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Volumn 22, Issue 1, 1999, Pages 74-80

Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER;

EID: 0032990549     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005455401076     Document Type: Article
Times cited : (42)

References (12)
  • 1
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    • New screening method for Wilson's disease and Menkes' kinky-hair disease
    • Aoki T, Nakahashi M (1977) New screening method for Wilson's disease and Menkes' kinky-hair disease. Lancet 2(8048): 1140.
    • (1977) Lancet , vol.2 , Issue.8048 , pp. 1140
    • Aoki, T.1    Nakahashi, M.2
  • 2
    • 0024491846 scopus 로고
    • Wilson's disease: An update, with emphasis on new approaches to treatment
    • Brewer GJ, Yuzbasiyan-Gurkan V (1989) Wilson's disease: an update, with emphasis on new approaches to treatment. Dig Dis 7: 178-193.
    • (1989) Dig Dis , vol.7 , pp. 178-193
    • Brewer, G.J.1    Yuzbasiyan-Gurkan, V.2
  • 3
    • 0000386450 scopus 로고
    • Disorder of copper transport
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Danks DM (1995) Disorder of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2211-2235.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , pp. 2211-2235
    • Danks, D.M.1
  • 4
    • 0027937114 scopus 로고
    • Measurement of blood holoceruloplasmin by EIa using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease
    • Endo F, Taketa K, Nakamura K, Awata H et al (1994) Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease, J Inher Metab Dis 17: 616-620.
    • (1994) J Inher Metab Dis , vol.17 , pp. 616-620
    • Endo, F.1    Taketa, K.2    Nakamura, K.3    Awata, H.4
  • 5
    • 0027994635 scopus 로고
    • Monoclonal antibody against the active site of caeruloplasmin and the ELISA system detecting active caeruloplasmin
    • Hiyamuta S, Ito K (1994) Monoclonal antibody against the active site of caeruloplasmin and the ELISA system detecting active caeruloplasmin. Hybridoma 13: 139-141.
    • (1994) Hybridoma , vol.13 , pp. 139-141
    • Hiyamuta, S.1    Ito, K.2
  • 6
    • 0027243262 scopus 로고
    • Early diagnosis of Wilson's disease
    • Hiyamuta S, Shimizu K, Aoki T (1993) Early diagnosis of Wilson's disease. Lancet 342(8862): 56-57.
    • (1993) Lancet , vol.342 , Issue.8862 , pp. 56-57
    • Hiyamuta, S.1    Shimizu, K.2    Aoki, T.3
  • 7
    • 0030971764 scopus 로고    scopus 로고
    • Haplotype and mutation analysis in Japanese patients with Wilson disease
    • Nanji MS, Nguyen VT, Kawasoe JH, et al (1997) Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 60: 1423-1429.
    • (1997) Am J Hum Genet , vol.60 , pp. 1423-1429
    • Nanji, M.S.1    Nguyen, V.T.2    Kawasoe, J.H.3
  • 9
    • 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 BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3: 1647-1656.
    • (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
  • 10
    • 0019805061 scopus 로고
    • An assessment of efficiency in potential screening for Wilson's disease
    • Saito T (1981) An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health 35: 274-280.
    • (1981) J Epidemiol Community Health , vol.35 , pp. 274-280
    • Saito, T.1
  • 12
    • 0344366593 scopus 로고    scopus 로고
    • Mutations of ATP7B gene in Wilson disease in Japan: Identification in nine mutations and lack of clear founder effect in a Japanese population
    • Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K (1997) Mutations of ATP7B gene in Wilson disease in Japan: identification in nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat Online # 116.
    • (1997) Hum Mutat Online , vol.116
    • Yamaguchi, A.1    Matsuura, A.2    Arashima, S.3    Kikuchi, Y.4    Kikuchi, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.