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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Valentino, Maria Lucia, Martí, Ramon, Tadesse, Saba, Lopez, Luis Carlos, Manes, Jose L., Lyzak, Judy, Hahn, Angelika, Carelli, Valerio, Hirano, Michio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2007
Pynciau:
Article
Mynediad Ar-lein: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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