Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).
Filosto M, Cotti Piccinelli S, Caria F, Gallo Cassarino S, Baldelli E, Galvagni A, Volonghi I, Scarpelli M, Padovani A.
Filosto M, et al.
J Clin Med. 2018 Oct 26;7(11):389. doi: 10.3390/jcm7110389.
J Clin Med. 2018.
PMID: 30373120
Free PMC article.
Review.
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 dysfunctio …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, …