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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Detalles Bibliográficos
Autores principales: Yadak, Rana, Breur, Marjolein, Bugiani, Marianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368792/
https://www.ncbi.nlm.nih.gov/pubmed/30736844
http://dx.doi.org/10.1186/s13023-019-1016-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368792/
https://www.ncbi.nlm.nih.gov/pubmed/30736844
http://dx.doi.org/10.1186/s13023-019-1016-6

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