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

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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/3ae19b79a9264a20ab8db3f8e0944106
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https://doaj.org/article/3ae19b79a9264a20ab8db3f8e0944106

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