Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive mitochondrial disease associated with mutations in the nuclear TYMP gene. As a result, the thymidine phosphorylase (TP) enzyme activity is markedly reduced leading to toxic accumulation of thymidine and there...

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Auteurs principaux:	Elisa Boschetti, Roberto D'Alessandro, Francesca Bianco, Valerio Carelli, Giovanna Cenacchi, Antonio D Pinna, Massimo Del Gaudio, Rita Rinaldi, Vincenzo Stanghellini, Loris Pironi, Kerry Rhoden, Vitaliano Tugnoli, Carlo Casali, Roberto De Giorgio
Format:	article
Langue:	EN
Publié:	Public Library of Science (PLoS) 2014
Sujets:	Medicine R Science Q
Accès en ligne:	https://doaj.org/article/3ae19b79a9264a20ab8db3f8e0944106
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Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.

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