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Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of thymidine and 2’-deoxyuridine and ultimately mitochondrial...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116056/ https://www.ncbi.nlm.nih.gov/pubmed/32914088 http://dx.doi.org/10.20517/jtgg.2020.08 |