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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a...

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Detalles Bibliográficos
Autores principales: Khan, Zaraq Rashid, Karam, Alvina, ul Haq, Mian Ayaz, Aman, Aleena, Karam, Ahmad Sharjeel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528126/
https://www.ncbi.nlm.nih.gov/pubmed/36192783
http://dx.doi.org/10.1186/s13256-022-03582-6