Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in <i>TYMP</i>, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction...

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Bibliographic Details
Main Authors: Massimiliano Filosto, Stefano Cotti Piccinelli, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Anna Galvagni, Irene Volonghi, Mauro Scarpelli, Alessandro Padovani
Format: Article
Language:English
Published: MDPI AG 2018-10-01
Series:Journal of Clinical Medicine
Subjects:
MNGIE
MTDPS1
mitochondrial diseases
mitochondrial therapy
mitochondrial neurogastrointestinal encephalopathy
Online Access:https://www.mdpi.com/2077-0383/7/11/389

Internet

https://www.mdpi.com/2077-0383/7/11/389

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