An investigation into the underlying molecular mechanisms of mitochondrial neurogastrointestinal encephalomyelopathy (MNGIE)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare and fatal inherited metabolic disorder due to a mutation in the nuclear TYMP gene leading to a deficiency in the enzyme thymidine phosphorylase. This subsequently causes an accumulation of the deoxynucleosides, thymidine, and de...
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St George's, University of London
2016
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.703121 |