Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

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

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Bibliographic Details
Published in:J Clin Med
Main Authors: Filosto, Massimiliano, Cotti Piccinelli, Stefano, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Galvagni, Anna, Volonghi, Irene, Scarpelli, Mauro, Padovani, Alessandro
Format: Artigo
Language:Inglês
Published: MDPI 2018
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6262582/
https://ncbi.nlm.nih.gov/pubmed/30373120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm7110389
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