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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Detalles Bibliográficos
Autores principales: Yadak, Rana, Sillevis Smitt, Peter, van Gisbergen, Marike W., van Til, Niek P., de Coo, Irenaeus F. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309216/
https://www.ncbi.nlm.nih.gov/pubmed/28261062
http://dx.doi.org/10.3389/fncel.2017.00031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309216/
https://www.ncbi.nlm.nih.gov/pubmed/28261062
http://dx.doi.org/10.3389/fncel.2017.00031

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