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Volumn 21, Issue 7, 1998, Pages 738-747

Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; CYSTATHIONINE BETA SYNTHASE; CYSTINE; FOLIC ACID; HOMOCYSTINE; METHIONINE; PYRIDOXINE;

EID: 0031781126     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005445132327     Document Type: Article
Times cited : (134)

References (13)
  • 1
    • 0000110351 scopus 로고    scopus 로고
    • Homocystinuria due to cystathionine β-synthase deficiency and related disorders
    • Fernandes J, Saudubray JM, van den Berghe G, eds. Berlin: Springer-Verlag
    • Andria G, Sebastio G (1996) Homocystinuria due to cystathionine β-synthase deficiency and related disorders. In Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases - Diagnosis and Treatment, 2nd edn. Berlin: Springer-Verlag, 177-182.
    • (1996) Inborn Metabolic Diseases - Diagnosis and Treatment, 2nd Edn. , pp. 177-182
    • Andria, G.1    Sebastio, G.2
  • 2
    • 0013924148 scopus 로고
    • Homocystinuria, clinical and dietary studies
    • Brenton DP, Cusworth DC, Dent CE, et al (1966) Homocystinuria, clinical and dietary studies. Q J Med 35: 325-346.
    • (1966) Q J Med , vol.35 , pp. 325-346
    • Brenton, D.P.1    Cusworth, D.C.2    Dent, C.E.3
  • 3
    • 0024397623 scopus 로고
    • Ocular complications in homocystinuria - Early and late treatment
    • Burke JP, O'Keeffe M, Bowell R, Naughten E (1989) Ocular complications in homocystinuria - early and late treatment. Br J Ophthalmol 73: 427-431.
    • (1989) Br J Ophthalmol , vol.73 , pp. 427-431
    • Burke, J.P.1    O'Keeffe, M.2    Bowell, R.3    Naughten, E.4
  • 4
    • 0000343368 scopus 로고
    • Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland
    • Carson NAJ, Niell DW (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 37: 505-513.
    • (1962) Arch Dis Child , vol.37 , pp. 505-513
    • Carson, N.A.J.1    Niell, D.W.2
  • 5
    • 0017943560 scopus 로고
    • Homocystinuria. Evidence of 3 distinct classes of cystathionine β-synthase mutants in cultured fibroblasts
    • Fowler B, Kraus J, Packman S, Rosenberg LE (1978) Homocystinuria. Evidence of 3 distinct classes of cystathionine β-synthase mutants in cultured fibroblasts. J Clin Invest 61: 645-653.
    • (1978) J Clin Invest , vol.61 , pp. 645-653
    • Fowler, B.1    Kraus, J.2    Packman, S.3    Rosenberg, L.E.4
  • 6
    • 0029156096 scopus 로고
    • High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients
    • Gallagher PM, Ward P, Tam S, et al (1995) High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients. Hum Mutat 6: 177-180.
    • (1995) Hum Mutat , vol.6 , pp. 177-180
    • Gallagher, P.M.1    Ward, P.2    Tam, S.3
  • 9
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine-β-synthase deficiency
    • Mudd SH, Skovby F, Levy HL, et al (1985) The natural history of homocystinuria due to cystathionine-β-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
  • 11
    • 0023939665 scopus 로고
    • The gene for cystathionine β-synthase (CBS) maps to subtelomeric region on human chromosome 21q and to the proximal mouse chromosome 17
    • Munke M, Kraus JP, Ohura T, Franke U (1988) The gene for cystathionine β-synthase (CBS) maps to subtelomeric region on human chromosome 21q and to the proximal mouse chromosome 17. Am J Hum Genet 42: 550-559.
    • (1988) Am J Hum Genet , vol.42 , pp. 550-559
    • Munke, M.1    Kraus, J.P.2    Ohura, T.3    Franke, U.4
  • 12
    • 0014573591 scopus 로고
    • Therapeutic problems of adolescent homocystinuria
    • Parkinson MS (1969) Therapeutic problems of adolescent homocystinuria. Proc R Soc Med 62: 909-910.
    • (1969) Proc R Soc Med , vol.62 , pp. 909-910
    • Parkinson, M.S.1
  • 13
    • 0020572775 scopus 로고
    • Homocystinuria - The effects of betaine in the treatment of patients not responsive to pyridoxine
    • Wilcken DEL, Wilcken B, Dudman NPB, Tyrrell PA (1983) Homocystinuria - the effects of betaine in the treatment of patients not responsive to pyridoxine. N Engl J Med 309: 448-453.
    • (1983) N Engl J Med , vol.309 , pp. 448-453
    • Wilcken, D.E.L.1    Wilcken, B.2    Dudman, N.P.B.3    Tyrrell, P.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.