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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...
Autores principales: | Khan, Zaraq Rashid, Karam, Alvina, ul Haq, Mian Ayaz, Aman, Aleena, Karam, Ahmad Sharjeel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |
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