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...

Descripción completa

Detalles Bibliográficos
Autores principales: Habibzadeh, Parham, Silawi, Mohammad, Dastsooz, Hassan, Bahramjahan, Shima, Ezzatzadegan Jahromi, Shahrokh, Ostovan, Vahid Reza, Yavarian, Majid, Mofatteh, Mohammad, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206720/
https://www.ncbi.nlm.nih.gov/pubmed/32384880
http://dx.doi.org/10.1186/s12876-020-01280-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206720/
https://www.ncbi.nlm.nih.gov/pubmed/32384880
http://dx.doi.org/10.1186/s12876-020-01280-5

Ejemplares similares