메뉴 건너뛰기




Volumn 89, Issue 1-2, 2006, Pages 134-138

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Author keywords

Ceruloplasmin; Dried blood spots; ELISA; Newborn screening; Pediatric screening; Wilson disease

Indexed keywords

CERULOPLASMIN;

EID: 33747022446     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.03.008     Document Type: Article
Times cited : (51)

References (20)
  • 1
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi Y., Heiny M.E., and Gitlin J.D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem. Biophys. Res. Commun. 197 (1993) 271-277
    • (1993) Biochem. Biophys. Res. Commun. , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 2
    • 0027452091 scopus 로고
    • The Wilson gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., and Cox D.W. The Wilson gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 5 (1993) 327-337
    • (1993) Nat. Genet. , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 4
    • 4744364702 scopus 로고    scopus 로고
    • Wilson disease: pathophysiology, diagnosis, treatment, and screening
    • Ala A., and Schilsky M. Wilson disease: pathophysiology, diagnosis, treatment, and screening. Clin. Liver Dis. 8 (2004) 787-805
    • (2004) Clin. Liver Dis. , vol.8 , pp. 787-805
    • Ala, A.1    Schilsky, M.2
  • 5
    • 14244260491 scopus 로고    scopus 로고
    • Wilson disease in Septuagenarian siblings: Raising the bar for diagnosis
    • Ala A., Borjigin J., Rochwarger A., and Schilsky M. Wilson disease in Septuagenarian siblings: Raising the bar for diagnosis. Hepatology 41 (2005) 668-670
    • (2005) Hepatology , vol.41 , pp. 668-670
    • Ala, A.1    Borjigin, J.2    Rochwarger, A.3    Schilsky, M.4
  • 6
    • 25844492550 scopus 로고    scopus 로고
    • Wilson disease-keeping the bar for diagnosis raised
    • Perri R., Hahn S.H., Ferber M., and Kamath P. Wilson disease-keeping the bar for diagnosis raised. Hepatology 42 (2005) 974
    • (2005) Hepatology , vol.42 , pp. 974
    • Perri, R.1    Hahn, S.H.2    Ferber, M.3    Kamath, P.4
  • 8
    • 15944405042 scopus 로고    scopus 로고
    • Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10-year follow-up study
    • Marcelli M., DiCiommo V., Callea F., DeVito R., Comparcola D., Sartorelli M.R., Carelli F., and Nobili V. Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10-year follow-up study. J. Lab. Clin. Med. 145 (2005) 139-143
    • (2005) J. Lab. Clin. Med. , vol.145 , pp. 139-143
    • Marcelli, M.1    DiCiommo, V.2    Callea, F.3    DeVito, R.4    Comparcola, D.5    Sartorelli, M.R.6    Carelli, F.7    Nobili, V.8
  • 11
    • 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., Tanoue A., Eda Y., and Matsuda I. 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 (1994) 616-620
    • (1994) J. Inher. Metab. Dis. , vol.17 , pp. 616-620
    • Endo, F.1    Taketa, K.2    Nakamura, K.3    Awata, H.4    Tanoue, A.5    Eda, Y.6    Matsuda, I.7
  • 13
    • 0037369857 scopus 로고    scopus 로고
    • Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population
    • Lovicu M.V., Dessi V., Zappu A., De Virgiliis A., Cao A., and Loudianos G. Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population. Clin. Chem. 49 (2003) 496-498
    • (2003) Clin. Chem. , vol.49 , pp. 496-498
    • Lovicu, M.V.1    Dessi, V.2    Zappu, A.3    De Virgiliis, A.4    Cao, A.5    Loudianos, G.6
  • 15
    • 33746997475 scopus 로고    scopus 로고
    • University of Alberta [homepage on the Internet]. Department of Medical Genetics: HUGO Wilson disease mutation database. Available at: http://www.medicalgenetics.med.ualberta.ca/wilson/index.php. Accessibility verified January 17, 2006.
  • 17
    • 0345480774 scopus 로고    scopus 로고
    • Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
    • Kim E.K., Yoo O.J., Song K.Y., Yoo H.W., Choi S.Y., Cho S.W., and Hahn S.H. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum. Mutat. 11 (1998) 275-278
    • (1998) Hum. Mutat. , vol.11 , pp. 275-278
    • Kim, E.K.1    Yoo, O.J.2    Song, K.Y.3    Yoo, H.W.4    Choi, S.Y.5    Cho, S.W.6    Hahn, S.H.7
  • 18
    • 0037639877 scopus 로고    scopus 로고
    • Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    • Schulze A., Lindner M., Kohlmuller D., Olgemoller K., Mayatepek E., and Hoffmann G.F. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111 (2003) 1399-1406
    • (2003) Pediatrics , vol.111 , pp. 1399-1406
    • Schulze, A.1    Lindner, M.2    Kohlmuller, D.3    Olgemoller, K.4    Mayatepek, E.5    Hoffmann, G.F.6
  • 19
    • 33644936760 scopus 로고    scopus 로고
    • Diagnostic significance of reduced serum ceruloplasmin concentration in neurological disease
    • Walshe J. Diagnostic significance of reduced serum ceruloplasmin concentration in neurological disease. Movement Disorders 20 (2005) 1658-1661
    • (2005) Movement Disorders , vol.20 , pp. 1658-1661
    • Walshe, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.