메뉴 건너뛰기




Volumn 71, Issue 2, 2003, Pages 49-53

A new look at galactosemia in the Netherlands;Galactosemie in Nederland, opnieuw beschouwd

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE;

EID: 0037389974     PISSN: 03767442     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (19)
  • 2
    • 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
  • 3
    • 0029084235 scopus 로고
    • Cognitive functioning, neurologic status and brain imaging in classic galactosemia
    • Kaufman FR, McBride-Chang C, Manis FR, et al. Cognitive functioning, neurologic status and brain imaging in classic galactosemia. Eur J Pediatr 1995;154(suppl 2):S2-5.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Kaufman, F.R.1    McBride-Chang, C.2    Manis, F.R.3
  • 4
    • 0029112149 scopus 로고
    • Verbal dyspraxia in children with galactosemia
    • Nelson D. Verbal dyspraxia in children with galactosemia. Eur J Pediatr 1995;154(suppl 2):S6-7.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Nelson, D.1
  • 6
    • 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
  • 7
    • 0029085509 scopus 로고
    • Gonadal function in galactosemics and in galactose-intoxicated animals
    • Gibson JB. Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr 1995;154(suppl 2):S14-20.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Gibson, J.B.1
  • 8
    • 0028879596 scopus 로고
    • Endogenous synthesis of galactose in normal men and patients with hereditary galactosemia
    • Berry GT, Nissim I, Lin Z, et al. Endogenous synthesis of galactose in normal men and patients with hereditary galactosemia. Lancet 1995;346(8982):1073-4.
    • (1995) Lancet , vol.346 , Issue.8982 , pp. 1073-1074
    • Berry, G.T.1    Nissim, I.2    Lin, Z.3
  • 10
    • 0026492422 scopus 로고
    • Serum lysosomal enzyme abnormalities in galactosemia
    • Jaeken J, Kint J, Spaapen LJM. Serum lysosomal enzyme abnormalities in galactosemia. Lancet 1992;340:1472-3.
    • (1992) Lancet , vol.340 , pp. 1472-1473
    • Jaeken, J.1    Kint, J.2    Spaapen, L.J.M.3
  • 11
    • 0026446459 scopus 로고
    • The human galactose-1-phosphate uridyltransferase gene
    • Leslie ND, Immerman EB, Flach JE, et al. The human galactose-1-phosphate uridyltransferase gene. Genomics 1992;14:474-80.
    • (1992) Genomics , vol.14 , pp. 474-480
    • Leslie, N.D.1    Immerman, E.B.2    Flach, J.E.3
  • 12
    • 0029080680 scopus 로고
    • A molecular approach to galactosemia
    • Elsas LJ, Langley S, Paulk EM, et al. A molecular approach to galactosemia. Eur J Pediatr 1995;154(suppl 2):S21-7.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Elsas, L.J.1    Langley, S.2    Paulk, E.M.3
  • 13
    • 0030051198 scopus 로고    scopus 로고
    • A prevalent mutation for galactosemia among black Americans
    • Lai K, Langley SD, Singh RH, et al. A prevalent mutation for galactosemia among black Americans. J Pediatr 1996;128:89-95.
    • (1996) J Pediatr , vol.128 , pp. 89-95
    • Lai, K.1    Langley, S.D.2    Singh, R.H.3
  • 14
    • 0031029549 scopus 로고    scopus 로고
    • Molecular basis for Duarte and Los Angeles variant galactosemia
    • Langley SD, Lai K, Dembure PP, et al. Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 1997;60:366-72.
    • (1997) Am J Hum Genet , vol.60 , pp. 366-372
    • Langley, S.D.1    Lai, K.2    Dembure, P.P.3
  • 16
    • 0019333552 scopus 로고
    • De diagnostiek van galactosemie: Screening of klinische diagnostiek?
    • Derksen-Lubsen G. De diagnostiek van galactosemie: screening of klinische diagnostiek? Ned Tijdschr Geneeskd 1980;124:1250-6.
    • (1980) Ned Tijdschr Geneeskd , vol.124 , pp. 1250-1256
    • Derksen-Lubsen, G.1
  • 17
    • 0022430174 scopus 로고
    • Galactosemie; variabiliteit in klinisch beeld en problemen bij de diagnostiek
    • Wijk-Hoek JM van, Klerk JBC de, Cats BP, et al. Galactosemie; variabiliteit in klinisch beeld en problemen bij de diagnostiek. Ned Tijdschr Geneeskd 1985;129:1836-40.
    • (1985) Ned Tijdschr Geneeskd , vol.129 , pp. 1836-1840
    • Van Wijk-Hoek, J.M.1    De Klerk, J.B.C.2    Cats, B.P.3
  • 18
    • 0032953619 scopus 로고    scopus 로고
    • Biochemical monitoring of treatment for galactosemia: Biological variability in metabolite concentrations
    • Hutchesson ACJ, Murdoch-Davis C, Green A, et al. Biochemical monitoring of treatment for galactosemia: Biological variability in metabolite concentrations. J Inherit Metab Dis 1999;22:139-48.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 139-148
    • Hutchesson, A.C.J.1    Murdoch-Davis, C.2    Green, A.3
  • 19


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.