Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clin...

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Detalles Bibliográficos
Autores principales: Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458607/
https://www.ncbi.nlm.nih.gov/pubmed/36101829
http://dx.doi.org/10.1002/jmd2.12315

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458607/
https://www.ncbi.nlm.nih.gov/pubmed/36101829
http://dx.doi.org/10.1002/jmd2.12315

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