Deficit of uridine diphosphate galactose in galactosaemia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799215
Reference24 articles.
1. Becroft, D. M. O., Phillips, L. I. and Simmonds, A. Hereditary orotic aciduria: long term therapy with uridine and a trial of uracil.J. Pediatr. 75 (1969) 885–891
2. Bohles, H., Wenzel, D. and Shin, Y. S. Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twins.Eur. J. Pediatr. 145 (1986) 413–417
3. Donnell, G. N., Bergren, W. R. and Ng, W. G. Galactosemia.Biochem. Med. 1 (1967) 29–53
4. 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
5. Gitzelmann, R. Estimation of galactose-1-phosphate in erythrocytes: a rapid and simple enzymatic method.Clin. Chim. Acta 26 (1969a) 313–316
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