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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Detalles Bibliográficos
Autores principales: Filosto, Massimiliano, Cotti Piccinelli, Stefano, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Galvagni, Anna, Volonghi, Irene, Scarpelli, Mauro, Padovani, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262582/
https://www.ncbi.nlm.nih.gov/pubmed/30373120
http://dx.doi.org/10.3390/jcm7110389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262582/
https://www.ncbi.nlm.nih.gov/pubmed/30373120
http://dx.doi.org/10.3390/jcm7110389

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