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A Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease due to mutations in the thymidine phosphorylase gene, leading to mitochondrial alterations and dysfunctions in oxidative phosphorylation. MNGIE is a multisystem disorder with gastrointestinal symptoms...

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Detalles Bibliográficos
Autores principales:	Manski, Scott Adam, Adkins, Christopher, Smith, Colin, Blair, Brian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287275/ https://www.ncbi.nlm.nih.gov/pubmed/35919666 http://dx.doi.org/10.14309/crj.0000000000000777

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