Author:
Özgül Rıza Köksal,Güzel-Ozantürk Ayşegül,Dündar Halil,Yücel-Yılmaz Didem,Coşkun Turgay,Sivri Serap,Aydoǧdu Sultan,Tokatlı Ayşegül,Dursun Ali
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Leloir, L. F. Enzymatic transformation of uridine diphosphate glucose into galactose derivative. Arch. Biochem. Biophys. 33, 186–194 (1957).
2. Segal, S. & Berry, G. T. in The Metabolic and Molecular Bases of Inherited Disease 7th edn (eds Scriver C. R., Beaudet A. L., Sly W. S., Valle D.) 967–1000 ((McGraw-Hill Inc: New York, NY, USA, 1995).
3. Tyfield, L., Reichardt, J., Fridovich-Keil, J., Croke, D. T., Elsas, L. J. 2nd, Strobl, W. et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyltransferase (GALT) gene. Hum. Mutat. 13, 417–430 (1999).
4. Schweitzer, S., Shin, Y., Jakobs, C. & Brodehl, J. Long-term outcome in 134 patients with galactosemia. Eur. J. Pediatr. 152, 36–43 (1993).
5. Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N. & Elsas, L. J. Molecular basis for Duarte and Los Angeles variant galactosemia. Am. J. Hum. Genet. 60, 366–372 (1997).
Cited by
10 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献