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Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointes...

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Detalles Bibliográficos
Autores principales:	Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540565/ https://www.ncbi.nlm.nih.gov/pubmed/28764801 http://dx.doi.org/10.1186/s13023-017-0687-0

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