Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Open Access
- 27 June 2007
- journal article
- research article
- Published by Wiley in FEBS Letters
- Vol. 581 (18) , 3410-3414
- https://doi.org/10.1016/j.febslet.2007.06.042
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations causing thymidine phosphorylase (TP) deficiency. Analysis of post‐mortem sa...Keywords
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