Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
Author:
Affiliation:
1. ; Purine Research Unit, Department of Chemical Pathology; Guy′s and St. Thomas′ Hospital; London
2. ; Wessex Neurological Centre; Southampton General Hospital; Southampton UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1022007827133/fullpdf
Reference3 articles.
1. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder;Hirano;Science,1999
2. Altered thymidine metabolism due to defects of thymidine phosphorylase;Spinazzola;J Biol Chem,2002
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