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Volumn 148, Issue 2, 2004, Pages 80-81

From gene to disease; galactosaemia and galactose-1-phosphate uridyltransferase deficiency;Van gen naar ziekte; galactosemie en galactose-1-fosfaaturidyltransferasedeficiëntie

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; LACTOSE;

EID: 0347132642     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (14)
  • 2
    • 0027231342 scopus 로고
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    • Bakker HD. Denk bij zieke kinderen bij wie uiteindelijk geen bevredigende diagnose wordt gesteld, aan een erfelijke stofwisselingsziekte. Ned Tijdschr Geneeskd 1993;137:937-40.
    • (1993) Ned Tijdschr Geneeskd , vol.137 , pp. 937-940
    • Bakker, H.D.1
  • 3
    • 0025648036 scopus 로고
    • Long-term prognosis in galactosemia: Results of a survey of 350 cases
    • Waggoner DD, Buist NRM, Donnell GN. Long-term prognosis in galactosemia: results of a survey of 350 cases. J Inherit Metab Dis 1990;13:802-18.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 802-818
    • Waggoner, D.D.1    Buist, N.R.M.2    Donnell, G.N.3
  • 5
    • 0000429065 scopus 로고    scopus 로고
    • Galactosemia today: The enigma and the challenge
    • Segal S. Galactosemia today: the enigma and the challenge. J Inherit Metab Dis 1998;21:445-71.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 445-471
    • Segal, S.1
  • 6
    • 0028879596 scopus 로고
    • Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
    • Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995;346:1073-4.
    • (1995) Lancet , vol.346 , pp. 1073-1074
    • Berry, G.T.1    Nissim, I.2    Lin, Z.3    Mazur, A.T.4    Gibson, J.B.5    Segal, S.6
  • 7
    • 0026492422 scopus 로고
    • Serum lysosomal enzyme abnormalities in galactosaemia
    • Jaeken J, Kint J, Spaapen LJM. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 1992;340:1472-3.
    • (1992) Lancet , vol.340 , pp. 1472-1473
    • Jaeken, J.1    Kint, J.2    Spaapen, L.J.M.3
  • 10
    • 0032973185 scopus 로고    scopus 로고
    • Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
    • Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas 2nd JL, Strobl W, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999;13:417-30.
    • (1999) Hum Mutat , vol.13 , pp. 417-430
    • Tyfield, L.1    Reichardt, J.2    Fridovich-Keil, J.3    Croke, D.T.4    Elsas II, J.L.5    Strobl, W.6
  • 13
    • 0033799301 scopus 로고    scopus 로고
    • Molecular basis of disorders of human galactose metabolism: Past, present, and future
    • Novelli G, Reichardt JKV. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab 2000;71:62-5.
    • (2000) Mol Genet Metab , vol.71 , pp. 62-65
    • Novelli, G.1    Reichardt, J.K.V.2
  • 14
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    • Large-scale molecular screening for galactosemia alleles in a pan-ethnic population
    • Suzuki M, West C, Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 2001;109:210-5.
    • (2001) Hum Genet , vol.109 , pp. 210-215
    • Suzuki, M.1    West, C.2    Beutler, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.