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Volumn 77, Issue 8, 2010, Pages 909-910

Generalized epimerase deficiency galactosemia

Author keywords

Galctosemia; Uridine diphosphate galactose 4 epimerase (GALE) deficiency

Indexed keywords

URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

EID: 84858376236     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-010-0135-9     Document Type: Article
Times cited : (10)

References (8)
  • 1
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    • Deficiency of uridine diphosphate galactose 4- epimerase in blood cells of an apparently healthy infant
    • Gitzelmann R. Deficiency of uridine diphosphate galactose 4- epimerase in blood cells of an apparently healthy infant. Helv Pediat Acta 1972; 27: 125-130.
    • (1972) Helv Pediat Acta , vol.27 , pp. 125-130
    • Gitzelmann, R.1
  • 2
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    • Galactosaemia
    • Scriver CR, Beaudet AL, Sly SW, Valle D, Childs B, Kinzler KW. Vogelstein B, eds, New York; McGraw-Hill
    • Holton JB, Walter JH, Tyfield LA. Galactosaemia. In Scriver CR, Beaudet AL, Sly SW, Valle D, Childs B, Kinzler KW. Vogelstein B, eds. Metabolic and molecular bases of inherited disease, New York; McGraw-Hill, 2000; 1553-1587.
    • (2000) Metabolic and Molecular Bases of Inherited Disease , pp. 1553-1587
    • Holton, J.B.1    Walter, J.H.2    Tyfield, L.A.3
  • 3
    • 0019773996 scopus 로고
    • Galactosemia: A new severe variant due to uridine diphosphate galactose-4- epimerase deficiency
    • Holton JB, Gillett MG, MacFaul R, Young R. Galactosemia: a new severe variant due to uridine diphosphate galactose-4- epimerase deficiency. Arch Dis Child 1981; 56: 885-887.
    • (1981) Arch Dis Child , vol.56 , pp. 885-887
    • Holton, J.B.1    Gillett, M.G.2    Macfaul, R.3    Young, R.4
  • 4
    • 28244453681 scopus 로고    scopus 로고
    • Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase
    • Timson DJ. Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. FEBS J 2005; 272 :6170-6177.
    • (2005) FEBS J , vol.272 , pp. 6170-6177
    • Timson, D.J.1
  • 5
    • 0031821733 scopus 로고    scopus 로고
    • Molecular characterization of a unique patient with epimerasedeficiency galactosaemia
    • 10.1023/A
    • Alano A, Almashanu S, Chinsky JM et al. Molecular characterization of a unique patient with epimerasedeficiency galactosaemia. J Inher Metab Dis 1998; 21: 341-350: 10.1023/A.
    • (1998) J Inher Metab Dis , vol.21 , pp. 341-350
    • Alano, A.1    Almashanu, S.2    Chinsky, J.M.3
  • 6
    • 40849131035 scopus 로고    scopus 로고
    • Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia
    • Chhay JS, Varquas CA, McCorvie TJ, Fridovich Keil JL, Timson DJ. Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia. J Inherit Metab Dis 2008; 31: 108-116.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 108-116
    • Chhay, J.S.1    Varquas, C.A.2    McCorvie, T.J.3    Fridovich Keil, J.L.4    Timson, D.J.5
  • 8
    • 0032935597 scopus 로고    scopus 로고
    • Generalised uridine diphosphate galactose-4-epimerase deficiency
    • Walter JH, Roberts REP, Besley GTN et al. Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 1999; 80: 374-376.
    • (1999) Arch Dis Child , vol.80 , pp. 374-376
    • Walter, J.H.1    Roberts, R.E.P.2    Besley, G.T.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.