Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabs...

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Detalhes bibliográficos
Publicado no:BMC Gastroenterol
Main Authors: Habibzadeh, Parham, Silawi, Mohammad, Dastsooz, Hassan, Bahramjahan, Shima, Ezzatzadegan Jahromi, Shahrokh, Ostovan, Vahid Reza, Yavarian, Majid, Mofatteh, Mohammad, Faghihi, Mohammad Ali
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7206720/
https://ncbi.nlm.nih.gov/pubmed/32384880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-020-01280-5
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