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Volumn 2, Issue 1, 2008, Pages 19-22

Newborn screening for classic galactosaemia and pimary congenital hypothyroidism in the Nkangala district of Mpumalanga province, South Africa

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; THYROID HORMONE; THYROTROPIN;

EID: 77953460037     PISSN: 19943032     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (14)
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    • Quantitative Beutler test for newborn mass screening of galactosaemia using a fluorometric microplate reader
    • Fujimoto A, Okano Y, Miyagi T, Isshiki G, Ottra, T. Quantitative Beutler test for newborn mass screening of galactosaemia using a fluorometric microplate reader. Clin Chem 2000; 46(6): 806-810.
    • (2000) Clin Chem , vol.46 , Issue.6 , pp. 806-810
    • Fujimoto, A.1    Okano, Y.2    Miyagi, T.3    Isshiki, G.4    Ottra, T.5
  • 2
    • 0034839364 scopus 로고    scopus 로고
    • Large scale molecular screening for galactosaemia alleles in a pan-ethnic population
    • Suzuki M, West C, Beutler E. Large scale molecular screening for galactosaemia alleles in a pan-ethnic population. J. Hum Genet 2001; 109: 210-215.
    • (2001) J. Hum Genet , vol.109 , pp. 210-215
    • Suzuki, M.1    West, C.2    Beutler, E.3
  • 3
    • 0027994242 scopus 로고
    • Biochemical and molecular studies of 132 patients with galactosaemia
    • Ng WG, Xu Y-K, Kaufman FR, et al. Biochemical and molecular studies of 132 patients with galactosaemia. Hum Genet 1994; 94: 359-363.
    • (1994) Hum Genet , vol.94 , pp. 359-363
    • Ng, W.G.1    Xu, Y.-K.2    Kaufman, F.R.3
  • 5
    • 2642581775 scopus 로고    scopus 로고
    • The clinical and molecular spectrum of galactosaemia patients from Cape Town region of South Africa
    • accessed May 2003
    • Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosaemia patients from Cape Town region of South Africa. BMC Pediatr 2002; 2: 7. http://www.biomedcentral.com/ (accessed May 2003).
    • (2002) BMC Pediatr , vol.2 , pp. 7
    • Henderson, H.1    Leisegang, F.2    Brown, R.3    Eley, B.4
  • 6
    • 0033168027 scopus 로고    scopus 로고
    • Homogenous bioluminescence assay for galactosttria: Interference and kinetic analysis
    • Eu J-Y, Wang C-Y, Andrade J. Homogenous bioluminescence assay for galactosttria: Interference and kinetic analysis. Anal Biochem 1999; 271: 168-176.
    • (1999) Anal Biochem , vol.271 , pp. 168-176
    • Eu, J.-Y.1    Wang, C.-Y.2    Andrade, J.3
  • 8
    • 58449118269 scopus 로고    scopus 로고
    • Cognition and behaviour at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine
    • Simoneau-Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G. Cognition and behaviour at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr 2004; 114(6): 698-700.
    • (2004) J Pediatr , vol.114 , Issue.6 , pp. 698-700
    • Simoneau-Roy, J.1    Marti, S.2    Deal, C.3    Huot, C.4    Robaey, P.5    Van Vliet, G.6
  • 9
    • 0035859497 scopus 로고    scopus 로고
    • Treatment of congenital hypothyroidism
    • Van Vliet G. Treatment of congenital hypothyroidism. Lancet 2001; 258: 86-87.
    • (2001) Lancet , vol.258 , pp. 86-87
    • Van Vliet, G.1
  • 10
    • 0002719981 scopus 로고
    • Red cell metabolism
    • 2nd ed. New York: Grune & Straton
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    • (1976) A Manual of Biochemical Methods
    • Beutler, E.1
  • 11
    • 0037322206 scopus 로고    scopus 로고
    • Analysis of common mutations in the galactose-l-phosphate uridyl transferase gene
    • Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW, Analysis of common mutations in the galactose-l-phosphate uridyl transferase gene. J Mol Diagn 2003; 5(1): 42-47.
    • (2003) J Mol Diagn , vol.5 , Issue.1 , pp. 42-47
    • Dobrowolski, S.F.1    Banas, R.A.2    Suzow, J.G.3    Berkley, M.4    Naylor, E.W.5
  • 12
    • 0030795428 scopus 로고    scopus 로고
    • Molecular heterogeneity of classical and Duarte galactosaemia: Mutation analysis by denaturing gradient gel electrophoresis
    • Greber-Pletzer S, Guldberg P, Scheibenreiter S, et al. Molecular heterogeneity of classical and Duarte galactosaemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat 1996; 10: 49-57.
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    • Greber-Pletzer, S.1    Guldberg, P.2    Scheibenreiter, S.3
  • 13
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  • 14
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    • Galactosaemia in black South African children
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    • Ojwang, P.J.1    Manickum, T.2    Deppe, W.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.