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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Autors principals: Boschetti, Elisa, D’Alessandro, Roberto, Bianco, Francesca, Carelli, Valerio, Cenacchi, Giovanna, Pinna, Antonio D., Gaudio, Massimo Del, Rinaldi, Rita, Stanghellini, Vincenzo, Pironi, Loris, Rhoden, Kerry, Tugnoli, Vitaliano, Casali, Carlo, De Giorgio, Roberto
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4011889/
https://ncbi.nlm.nih.gov/pubmed/24802030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0096692
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