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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2017
Pynciau:
Letter to the Editor
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540565/
https://ncbi.nlm.nih.gov/pubmed/28764801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0687-0
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