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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Bibliographic Details
Main Author: Reid, E. S.
Other Authors: Mills, P. B. ; Gissen, P. ; Clayton, P. T.
Published: University College London (University of London) 2016
Subjects:
Online Access:https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.746256