Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, t...

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Publicado en:Case Rep Gastroenterol
Autores principales: Tawk, Antonios, Hussein Kamarreddine, Mohammed, Dagher, Mona, Abboud, Ghadi, Chams, Mohamad, Ghandour-Hajj, Fatmeh, Khoury, Mounir, Farhat, Said
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2020
Materias:
Case and Review
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7184788/
https://ncbi.nlm.nih.gov/pubmed/32355481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000506187
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