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...

Descripción completa

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

Internet

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

Ejemplares similares