Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations causing thymidine phosphorylase (TP) deficiency. Analysis of post-mortem samples of five MNGIE patients and two controls, revealed TP activity in all control tissues, but not i...

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Huvudupphovsmän: Valentino, Maria Lucia, Martí, Ramon, Tadesse, Saba, Lopez, Luis Carlos, Manes, Jose L., Lyzak, Judy, Hahn, Angelika, Carelli, Valerio, Hirano, Michio
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2007
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1986782/
https://ncbi.nlm.nih.gov/pubmed/17612528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.febslet.2007.06.042
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