Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transplantation on the biochemical and clinical aspects of...

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Detalles Bibliográficos
Autores principales: Paisiou, A., Rogalidou, M., Pons, R., Ioannidou, E., Dimakou, K., Papadopoulou, A., Vaz, F.M., Vessalas, G., Goorden, S.M.I., Roelofsen, J., Zoetekouw, A., Nieman, M.M., Dimitriou, E., Moraitou, M., Peristeri, I., Michelakakis, H., van Kuilenburg, A.B.P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649387/
https://www.ncbi.nlm.nih.gov/pubmed/34926160
http://dx.doi.org/10.1016/j.ymgmr.2021.100829

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