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Volumn 1315, Issue 1, 2014, Pages 64-69

Population screening for Wilson's disease

Author keywords

ATP7B; Ceruloplasmin; LC MRM MS; LC MS MS; Newborn screening; Population screening; Wilson's disease

Indexed keywords

BIOLOGICAL MARKER; CERULOPLASMIN; CHELATING AGENT; COPPER; MONOCLONAL ANTIBODY; WILSON DISEASE PROTEIN; ZINC DERIVATIVE;

EID: 84900025905     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/nyas.12423     Document Type: Article
Times cited : (42)

References (28)
  • 1
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
    • Sak, W. 1912. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-509.
    • (1912) Brain , vol.34 , pp. 295-509
    • Sak, W.1
  • 2
    • 33846582913 scopus 로고    scopus 로고
    • Wilson's disease
    • Ala, A., A.P. Walker, K. Ashkan, et al. 2007. Wilson's disease. Lancet. 369: 397-408.
    • (2007) Lancet. , vol.369 , pp. 397-408
    • Ala, A.1    Walker, A.P.2    Ashkan, K.3
  • 3
    • 46249112793 scopus 로고    scopus 로고
    • Diagnosis and treatment of Wilson disease: an update
    • Roberts, E.A. & M.L. Schilsky. 2008. Diagnosis and treatment of Wilson disease: an update. Hepatology. 47: 2089-2111.
    • (2008) Hepatology. , vol.47 , pp. 2089-2111
    • Roberts, E.A.1    Schilsky, M.L.2
  • 4
    • 16244386202 scopus 로고    scopus 로고
    • Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment
    • Brewer, G.J. 2005. Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. CNS Drugs 19: 185-192.
    • (2005) CNS Drugs , vol.19 , pp. 185-192
    • Brewer, G.J.1
  • 5
    • 0016337558 scopus 로고
    • Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menke's kinky hair syndrome, Wilson's disease and umbilical cord blood
    • I Matzuda, T.P. & N.A. Holtman. 1974. Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menke's kinky hair syndrome, Wilson's disease and umbilical cord blood. Pediatrics. 8: 821-824.
    • (1974) Pediatrics. , vol.8 , pp. 821-824
    • Matzuda, T.P.I.1    Holtman, N.A.2
  • 6
    • 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., K. Taketa, K. Nakamura, 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. Inherit. Metab. Dis. 17: 616-620.
    • (1994) J. Inherit. Metab. Dis. , vol.17 , pp. 616-620
    • Endo, F.1    Taketa, K.2    Nakamura, K.3
  • 7
    • 0032769907 scopus 로고    scopus 로고
    • Mass screening for Wilson's disease: results and recommendations
    • Yamaguchi, Y., T. Aoki, S. Arashima, et al. 1999. Mass screening for Wilson's disease: results and recommendations. Pediatr. Int. 41: 405-408.
    • (1999) Pediatr. Int. , vol.41 , pp. 405-408
    • Yamaguchi, Y.1    Aoki, T.2    Arashima, S.3
  • 8
    • 0032990549 scopus 로고    scopus 로고
    • Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics
    • Ohura, T., D. Abukawa, H. Shiraishi, et al. 1999. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J. Inherit. Metab. Dis. 22: 74-80.
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 74-80
    • Ohura, T.1    Abukawa, D.2    Shiraishi, H.3
  • 9
    • 0036085919 scopus 로고    scopus 로고
    • Mass screening for Wilson's disease by measuring urinary holoceruloplasmin
    • Owada, M., K. Suzuki, M. Fukushi, et al. 2002. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J. Pediatr. 140: 614-616.
    • (2002) J. Pediatr. , vol.140 , pp. 614-616
    • Owada, M.1    Suzuki, K.2    Fukushi, M.3
  • 10
    • 44649111099 scopus 로고    scopus 로고
    • Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay
    • Nakayama, K., M. Kubota, Y. Katoh, et al. 2008. Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay. Mol. Genet. Metab. 94: 363-367.
    • (2008) Mol. Genet. Metab. , vol.94 , pp. 363-367
    • Nakayama, K.1    Kubota, M.2    Katoh, Y.3
  • 11
    • 0036616929 scopus 로고    scopus 로고
    • Pilot study of mass screening for Wilson's disease in Korea
    • Hahn, S.H., S.Y. Lee, Y.J. Jang, et al. 2002. Pilot study of mass screening for Wilson's disease in Korea. Mol. Genet. Metab. 76: 133-136.
    • (2002) Mol. Genet. Metab. , vol.76 , pp. 133-136
    • Hahn, S.H.1    Lee, S.Y.2    Jang, Y.J.3
  • 12
    • 33747022446 scopus 로고    scopus 로고
    • Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
    • Kroll, C.A., M.J. Ferber, B.D. Dawson, et al. 2006. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol. Genet. Metab. 89: 134-138.
    • (2006) Mol. Genet. Metab. , vol.89 , pp. 134-138
    • Kroll, C.A.1    Ferber, M.J.2    Dawson, B.D.3
  • 13
    • 57149083533 scopus 로고    scopus 로고
    • Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening
    • deWilde, A., K. Sadilkova, M. Sadilek, et al. 2008. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin. Chem. 54: 1961-1968.
    • (2008) Clin. Chem. , vol.54 , pp. 1961-1968
    • deWilde, A.1    Sadilkova, K.2    Sadilek, M.3
  • 14
    • 58149214535 scopus 로고    scopus 로고
    • High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs
    • Zappu, A., O. Magli, M.B. Lepori, et al. 2008. High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J. Pediatr. Gastroenterol. Nutr. 47: 334-338.
    • (2008) J. Pediatr. Gastroenterol. Nutr. , vol.47 , pp. 334-338
    • Zappu, A.1    Magli, O.2    Lepori, M.B.3
  • 15
    • 80052679496 scopus 로고    scopus 로고
    • Clinical molecular diagnosis of Wilson disease
    • Bennett, J. & S.H Hahn. 2011. Clinical molecular diagnosis of Wilson disease. Semin. Liver Dis. 31: 233-238.
    • (2011) Semin. Liver Dis. , vol.31 , pp. 233-238
    • Bennett, J.1    Hahn, S.H.2
  • 16
    • 84900031862 scopus 로고    scopus 로고
    • An exceptional family with three consecutive generations affected by Wilson disease
    • Bennett, J.T., K.B. Schwarz, P.D. Swanson & S.H Hahn. 2013. An exceptional family with three consecutive generations affected by Wilson disease. JIMD Rep. 10: 1-4.
    • (2013) JIMD Rep. , vol.10 , pp. 1-4
    • Bennett, J.T.1    Schwarz, K.B.2    Swanson, P.D.3    Hahn, S.H.4
  • 17
    • 77954387104 scopus 로고    scopus 로고
    • Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening
    • Zappu, A., M.B. Lepori, S. Incollu, et al. 2010. Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening. Mol. Cell Probes. 24: 233-235.
    • (2010) Mol. Cell Probes. , vol.24 , pp. 233-235
    • Zappu, A.1    Lepori, M.B.2    Incollu, S.3
  • 18
    • 84877282333 scopus 로고    scopus 로고
    • A genetic study of Wilson's disease in the United Kingdom
    • Coffey, A.J., M. Durkie, S. Hague, et al. 2013. A genetic study of Wilson's disease in the United Kingdom. Brain 136: 1476-1487.
    • (2013) Brain , vol.136 , pp. 1476-1487
    • Coffey, A.J.1    Durkie, M.2    Hague, S.3
  • 19
    • 84865592965 scopus 로고    scopus 로고
    • Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS
    • Kerfoot, S.A., S. Jung, K. Golob, et al. 2012. Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. Proteomics Clin. Appl. 6: 394-402.
    • (2012) Proteomics Clin. Appl. , vol.6 , pp. 394-402
    • Kerfoot, S.A.1    Jung, S.2    Golob, K.3
  • 20
    • 76649109590 scopus 로고    scopus 로고
    • An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers
    • Whiteaker, J.R., L. Zhao, L. Anderson & A.G Paulovich. 2010. An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers. Mol. Cell. Proteomics. 9: 184-196.
    • (2010) Mol. Cell. Proteomics. , vol.9 , pp. 184-196
    • Whiteaker, J.R.1    Zhao, L.2    Anderson, L.3    Paulovich, A.G.4
  • 21
    • 79960214321 scopus 로고    scopus 로고
    • A targeted proteomics-based pipeline for verification of biomarkers in plasma
    • Whiteaker, J.R., C. Lin, J. Kennedy, et al. 2011. A targeted proteomics-based pipeline for verification of biomarkers in plasma. Nat. Biotechnol. 29: 625-634.
    • (2011) Nat. Biotechnol. , vol.29 , pp. 625-634
    • Whiteaker, J.R.1    Lin, C.2    Kennedy, J.3
  • 22
    • 0032167856 scopus 로고    scopus 로고
    • Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
    • Payne, A.S., E.J. Kelly & J.D. Gitlin. 1998. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl. Acad Sci. U. S. A. 95: 10854-10859.
    • (1998) Proc. Natl. Acad Sci. U. S. A. , vol.95 , pp. 10854-10859
    • Payne, A.S.1    Kelly, E.J.2    Gitlin, J.D.3
  • 23
    • 73149122801 scopus 로고    scopus 로고
    • Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin
    • van den Berghe, P.V., J.M. Stapelbroek, E. Krieger, et al. 2009. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatology 50: 1783-1795.
    • (2009) Hepatology , vol.50 , pp. 1783-1795
    • van den Berghe, P.V.1    Stapelbroek, J.M.2    Krieger, E.3
  • 24
    • 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., B. van de Sluis, E. Burstein, et al. 2007. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 133: 1316-1326.
    • (2007) Gastroenterology , vol.133 , pp. 1316-1326
    • de Bie, P.1    van de Sluis, B.2    Burstein, E.3
  • 25
    • 77649312565 scopus 로고    scopus 로고
    • Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
    • Merle, U., K.H. Weiss, C. Eisenbach, et al. 2010. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol. 10: 8.
    • (2010) BMC Gastroenterol. , vol.10 , pp. 8
    • Merle, U.1    Weiss, K.H.2    Eisenbach, C.3
  • 26
    • 26244434931 scopus 로고    scopus 로고
    • Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
    • Vrabelova, S., O. Letocha, M. Borsky & L. Kozak. 2005. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol. Genet. Metab. 86: 277-285.
    • (2005) Mol. Genet. Metab. , vol.86 , pp. 277-285
    • Vrabelova, S.1    Letocha, O.2    Borsky, M.3    Kozak, L.4
  • 27
    • 6944256813 scopus 로고    scopus 로고
    • Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
    • Mendell, J.T., N.A. Sharifi, J.L. Meyers, et al. 2004. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat. Genet. 36: 1073-1078.
    • (2004) Nat. Genet. , vol.36 , pp. 1073-1078
    • Mendell, J.T.1    Sharifi, N.A.2    Meyers, J.L.3
  • 28
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang, Y.F., J.S. Imam & M.F Wilkinson. 2007. The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem. 76: 51-74.
    • (2007) Annu. Rev. Biochem. , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.