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Volumn 11, Issue 4, 1997, Pages 436-440

Screening for galactosaemia in Greece

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0031397344     PISSN: 02695022     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-3016.1997.d01-31.x     Document Type: Article
Times cited : (23)

References (13)
  • 1
    • 0000029655 scopus 로고
    • Disorders of galactose metabolism
    • Editors: Scriver CR, Beandat AL, Sly WS, Valle D, 8th edn. New York: McGraw-Still
    • Segal S. Disorders of galactose metabolism. In: The Metabolic and Molecular Basis of Inherited Disease. Editors: Scriver CR, Beandat AL, Sly WS, Valle D, 8th edn. New York: McGraw-Still, 1995; 453-480.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 453-480
    • Segal, S.1
  • 5
    • 2142749366 scopus 로고
    • Galactosemia screening: Methodology and outcome from worldwide data collection
    • Editor: Therrell BL. Amsterdam: Elsevier
    • Ng W, Kawamura M, Donnell CN. Galactosemia screening: Methodology and outcome from worldwide data collection. In: Advances in Neonatal Screening. Editor: Therrell BL. Amsterdam: Elsevier, 1978; pp. 243-249.
    • (1978) Advances in Neonatal Screening , pp. 243-249
    • Ng, W.1    Kawamura, M.2    Donnell, C.N.3
  • 6
    • 17344363607 scopus 로고
    • Frequency of UDP-gal-4-epimerase deficiency identified by newborn screening
    • Cowan T, Raffel L, Ng W. Frequency of UDP-gal-4-epimerase deficiency identified by newborn screening . Journal of Human Genetics 1991; 49:328.
    • (1991) Journal of Human Genetics , vol.49 , pp. 328
    • Cowan, T.1    Raffel, L.2    Ng, W.3
  • 8
    • 0029125073 scopus 로고
    • Newborn mass screening for galactosemia
    • Schweitzer S. Newborn mass screening for galactosemia. European Journal of Pediatrics 1995; 154 (Suppl 2): 537-539.
    • (1995) European Journal of Pediatrics , vol.154 , Issue.2 SUPPL. , pp. 537-539
    • Schweitzer, S.1
  • 9
    • 0017870551 scopus 로고
    • Galactose-1-phosphate uridyl transferase due to Duarte galactosemia combined variations. Clinical and biochemical studies
    • Levy HL, Sepe SJ, Walton DS. Galactose-1-phosphate uridyl transferase due to Duarte galactosemia combined variations. Clinical and biochemical studies. Journal of Pediatrics 1979; 93:390-396.
    • (1979) Journal of Pediatrics , vol.93 , pp. 390-396
    • Levy, H.L.1    Sepe, S.J.2    Walton, D.S.3
  • 10
    • 0018379503 scopus 로고
    • Significance of the Duarte classical galactosemia genetic compound
    • Kelly S. Significance of the Duarte classical galactosemia genetic compound. Journal of Pediatrics 1979; 92:937-945.
    • (1979) Journal of Pediatrics , vol.92 , pp. 937-945
    • Kelly, S.1
  • 12
    • 0023955965 scopus 로고
    • Galactosemia - To screen or not to screen
    • Harris RC. Galactosemia - to screen or not to screen. Pediatrics 1988; 187:327-328.
    • (1988) Pediatrics , vol.187 , pp. 327-328
    • Harris, R.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.