Cellular and molecular investigations of undiagnosed neurometabolic disorders
Inborn errors of metabolism (IEM) affect 1 in 500 newborns causing significant disease-burden and mortality throughout childhood. However, despite extensive genetic and biochemical investigations the cause of disease remains unknown in up to 50% of patients with neurological symptoms; so-called neur...
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University College London (University of London)
2016
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Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.746256 |