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Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
BACKGROUND: MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, they are no...
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| Publicat a: | Orphanet J Rare Dis |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6368792/ https://ncbi.nlm.nih.gov/pubmed/30736844 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1016-6 |
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