Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mitochondrial dysfunction. The clinical picture includ...

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Detalles Bibliográficos
Autores principales: Scarpelli, Mauro, Russignan, Anna, Zombor, Melinda, Bereczki, Csaba, Zappini, Francesca, Buono, Romina, Bax, Bridget E., Padovani, Alessandro, Tonin, Paola, Filosto, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2012
Materias:
Published online: December, 2012
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551392/
https://www.ncbi.nlm.nih.gov/pubmed/23341816
http://dx.doi.org/10.1159/000346260

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