Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01802040
Reference9 articles.
1. Blaskovics, M. E., Ng, W. G. and Donnell, G. N. Prenatal diagnosis and a case report of isovaleric acidemia.J. Inher. Metab. Dis. 1 (1978) 9–11
2. Fujimura, Y., Kawamura, M and Naruse, H. A new mass screening method for determining UDP galactose in blood.Tohuku J. Exp. Med. 141 (1983) 263–268
3. Gitzelmann, R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts.Pediatr. Res. 11 (1967) 14–23
4. Kaufman, F. R., Xu, Y. K., Ng, W. G. and Donnell, G. N. Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia.J. Pediatr. 112 (1988) 754–756
5. Lee, J. E. S. and Ng, W. G. Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase.Clin. Chim. Acta 124 (1982) 351–356
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1. Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism;Swaiman's Pediatric Neurology;2012
2. Clinical features of galactokinase deficiency:A review of the literature;Journal of Inherited Metabolic Disease;2003-02
3. Information processing characteristics and uridine treatment in children with classical galactosemia;Nutrition Research;2002-03
4. Diet does not ensure normal development in galactosemia.;Journal of the American College of Nutrition;1997-06
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