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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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| Vydáno v: | J Transl Genet Genom |
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| Hlavní autor: | |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7116056/ https://ncbi.nlm.nih.gov/pubmed/32914088 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.20517/jtgg.2020.08 |
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