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

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

Abstract 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 ga...

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Bibliographic Details
Main Authors: Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik
Format: Article
Language:English
Published: BMC 2017-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
MNGIE
Haemodialysis
Mitochondriopathy
Thymidine phosphorylases
Online Access:http://link.springer.com/article/10.1186/s13023-017-0687-0

Internet

http://link.springer.com/article/10.1186/s13023-017-0687-0

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