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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184788/
https://www.ncbi.nlm.nih.gov/pubmed/32355481
http://dx.doi.org/10.1159/000506187

Ejemplares similares