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Volumn 144, Issue 6, 2004, Pages 830-832

Birth prevalence of homocystinuria

Author keywords

CBS; Cystathionine synthase

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

EID: 3042830639     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.03.004     Document Type: Article
Times cited : (58)

References (10)
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    • Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: A multicenter observational study
    • Yap S, Boers G.H, Wilcken B, Wilcken D.E, Brenton D.P, Lee P.J, et al. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol. 21:2001;2080-2085
    • (2001) Arterioscler Thromb Vasc Biol , vol.21 , pp. 2080-2085
    • Yap, S.1    Boers, G.H.2    Wilcken, B.3    Wilcken, D.E.4    Brenton, D.P.5    Lee, P.J.6
  • 3
    • 0033551363 scopus 로고    scopus 로고
    • Prevalence of congenital homocystinuria in Denmark
    • Gaustadnes M, Ingerslev J, Rutiger N. Prevalence of congenital homocystinuria in Denmark. N Engl J Med. 340:1999;1513
    • (1999) N Engl J Med , vol.340 , pp. 1513
    • Gaustadnes, M.1    Ingerslev, J.2    Rutiger, N.3
  • 4
    • 9844226203 scopus 로고    scopus 로고
    • Functional modeling of vitamin responsiveness in yeast: A common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria
    • Kim C.E, Gallagher P.M, Guttormsen A.B, Refsum H, Ueland P.M, Ose L, et al. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum Mol Genet. 6:1997;2213-2221
    • (1997) Hum Mol Genet , vol.6 , pp. 2213-2221
    • Kim, C.E.1    Gallagher, P.M.2    Guttormsen, A.B.3    Refsum, H.4    Ueland, P.M.5    Ose, L.6
  • 5
    • 0032831045 scopus 로고    scopus 로고
    • Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
    • Harksen A, Ueland P.M, Refsum H, Meyer K. Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem. 45:1999;1157-1161
    • (1999) Clin Chem , vol.45 , pp. 1157-1161
    • Harksen, A.1    Ueland, P.M.2    Refsum, H.3    Meyer, K.4
  • 7
    • 0036327069 scopus 로고    scopus 로고
    • The molecular basis of cystathionine beta-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
    • Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus J.P, et al. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 20:2002;117-126
    • (2002) Hum Mutat , vol.20 , pp. 117-126
    • Gaustadnes, M.1    Wilcken, B.2    Oliveriusova, J.3    McGill, J.4    Fletcher, J.5    Kraus, J.P.6
  • 8
    • 0031781126 scopus 로고    scopus 로고
    • Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control
    • Yap S, Naughten E. Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis. 21:1998;738-747
    • (1998) J Inherit Metab Dis , vol.21 , pp. 738-747
    • Yap, S.1    Naughten, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.