Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency. The lack of TP results in systemic accumulation of deoxyribonucleosides thymidine (dThd) and deoxyuridine (dUrd). In these patients, clinical fe...

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Bibliografske podrobnosti
izdano v:Front Cell Neurosci
Main Authors: Yadak, Rana, Sillevis Smitt, Peter, van Gisbergen, Marike W., van Til, Niek P., de Coo, Irenaeus F. M.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2017
Teme:
Neuroscience
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5309216/
https://ncbi.nlm.nih.gov/pubmed/28261062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fncel.2017.00031
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