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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Bibliografiske detaljer

Principais autores:	A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2022-03-01
Serier:	Molecular Genetics and Metabolism Reports
Fag:	Mitochondrial neurogastrointestinal encephalomyopathy MNGIE Mutation analysis Allogeneic hematopoietic stem cell transplantation, AHSCT
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2214426921001245
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