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Volumn 56, Issue 7, 2010, Pages 1045-1046

Duarte galactosemia: How sweet is it?

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; LACTOSE;

EID: 77954381946     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2010.147371     Document Type: Editorial
Times cited : (14)

References (6)
  • 1
    • 64149098932 scopus 로고    scopus 로고
    • Galactosemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 8th ed. Childs B, Kinzler KW, Vogelstein B, assoc. eds. New York: McGraw-Hill; Accessed June 2010. This chapter is 72 (revised 2008 Feb)
    • Fridovich-Keil JL, Walter JH. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Childs B, Kinzler KW, Vogelstein B, assoc. eds. New York: McGraw-Hill; 2001. http://www.ommbid.com/ (Accessed June 2010). This chapter is 72 (revised 2008 Feb).
    • (2001) The Metabolic & Molecular Bases of Inherited Disease
    • Fridovich-Keil, J.L.1    Walter, J.H.2
  • 2
    • 77954364497 scopus 로고    scopus 로고
    • Galactosemia
    • last update, September 27, Accessed April 2010
    • Elsas LJ. Galactosemia. GeneReviews at GeneTests (last update, September 27, 2007). http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part= galactosemia (Accessed April 2010).
    • (2007) GeneReviews at GeneTests
    • Elsas, L.J.1
  • 3
    • 77954359778 scopus 로고    scopus 로고
    • Monitoring of biochemical status in children with Duarte galactosemia: Utility of galactose, galactitol, galactonate, and galactose 1-phosphate
    • Ficicioglu C, Hussa C, Gallagher PR, Thomas N, Yager C. Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. Clin Chem 2010;56:1177-82.
    • (2010) Clin Chem , vol.56 , pp. 1177-1182
    • Ficicioglu, C.1    Hussa, C.2    Gallagher, P.R.3    Thomas, N.4    Yager, C.5
  • 4
    • 67649124152 scopus 로고    scopus 로고
    • Newborn screening for genetic disorders
    • Fernhoff PM. Newborn screening for genetic disorders. Pediatr Clin North Am 2009;56:505-13.
    • (2009) Pediatr Clin North Am , vol.56 , pp. 505-513
    • Fernhoff, P.M.1
  • 5
    • 0017870551 scopus 로고
    • Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies
    • Levy HL, Sepe SJ, Walton DS, Shih VE, Hammerson G, Houghton S, Beutler E. Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. J Pediatr 1978;92:390-3.
    • (1978) J Pediatr , vol.92 , pp. 390-393
    • Levy, H.L.1    Sepe, S.J.2    Walton, D.S.3    Shih, V.E.4    Hammerson, G.5    Houghton, S.6    Beutler, E.7
  • 6
    • 0029112151 scopus 로고
    • Partial deficiency of galactose-1-phosphate uridyltransferase
    • Gitzelmann R, Bosshard NU: Partial deficiency of galactose-1-phosphate uridyltransferase. Eur J Pediatr 1995;154(Suppl 2):S40-4.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Gitzelmann, R.1    Bosshard, N.U.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.