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Volumn 28, Issue 6, 2005, Pages 825-830

Social outcome in treated individuals with inherited metabolic disorders: UK study

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXINE;

EID: 31644435083     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0159-x     Document Type: Article
Times cited : (17)

References (12)
  • 1
    • 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, et al (2002) The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat 20: 117-126.
    • (2002) Hum Mutat , vol.20 , pp. 117-126
    • Gaustadnes, M.1    Wilcken, B.2    Oliveriusova, J.3
  • 2
    • 0021127337 scopus 로고
    • Galactosemia: How does long-term treatment change the outcome?
    • Gitzelmann R, Steinmann B (1984) Galactosemia: How does long-term treatment change the outcome? Enzyme 32: 37-46. 37-46
    • (1984) Enzyme , vol.32 , pp. 37-46
    • Gitzelmann, R.1    Steinmann, B.2
  • 3
    • 0022378264 scopus 로고
    • Successful adjustment to society by adults with phenylketonuria
    • Koch R, Yusin M, Fishler K (1985) Successful adjustment to society by adults with phenylketonuria. J Inherit Metab Dis 8: 209-211. 209-211
    • (1985) J Inherit Metab Dis , vol.8 , pp. 209-211
    • Koch, R.1    Yusin, M.2    Fishler, K.3
  • 5
    • 0035990281 scopus 로고    scopus 로고
    • Growing older: The adult metabolic clinic
    • Lee PJ (2002) Growing older: The adult metabolic clinic. J Inherit Metab Dis 25: 252-260. 252-260
    • (2002) J Inherit Metab Dis , vol.25 , pp. 252-260
    • Lee, P.J.1
  • 6
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine beta-synthase deficiency
    • Mudd SH, Skovby F, Levy HL, et al (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 37: 1-31.
    • (1985) Am J Hum Genet , vol.37 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3
  • 7
    • 0029786709 scopus 로고    scopus 로고
    • Intelligence and professional career in young adults treated early for phenylketonuria
    • Schmidt H, Burgard P, Pietz J, Rupp A (1996) Intelligence and professional career in young adults treated early for phenylketonuria. Eur J Pediatr 155 (supplement 1): S97-S100.
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL. 1
    • Schmidt, H.1    Burgard, P.2    Pietz, J.3    Rupp, A.4
  • 8
  • 9
    • 0346689987 scopus 로고    scopus 로고
    • Early diagnosis of inherited metabolic disorders towards improving outcome: The controversial issue of galactosaemia
    • Schweitzer-Krantz S (2003) Early diagnosis of inherited metabolic disorders towards improving outcome: The controversial issue of galactosaemia. Eur J Pediatr 162 (supplment 1): S50-S53.
    • (2003) Eur J Pediatr , vol.162 , Issue.SUPPL. 1
    • Schweitzer-Krantz, S.1
  • 10
    • 0033856120 scopus 로고    scopus 로고
    • The relationship of genotype to cognitive outcome in galactosaemia
    • Shield JP, Wadsworth EJ, MacDonald A, et al (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83: 248-250.
    • (2000) Arch Dis Child , vol.83 , pp. 248-250
    • Shield, J.P.1    Wadsworth, E.J.2    MacDonald, A.3
  • 11
    • 0025648036 scopus 로고
    • Long-term prognosis in galactosaemia: Results of a survey of 350 cases
    • Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: Results of a survey of 350 cases. J Inherit Metab Dis 13: 802-818.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 802-818
    • Waggoner, D.D.1    Buist, N.R.2    Donnell, G.N.3
  • 12
    • 0034828509 scopus 로고    scopus 로고
    • The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency
    • Yap S, Rushe H, Howard PM, Naughten ER (2001) The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 24: 437-447.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 437-447
    • Yap, S.1    Rushe, H.2    Howard, P.M.3    Naughten, E.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.