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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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| Publicado no: | J Clin Med |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2018
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| Assuntos: | |
| Acesso em linha: | 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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