Genetic disorders of neurotransmitter metabolism are increasingly recognised as causes of severe metabolic encephalopathy often starting before birth or soon thereafter. Diagnosis usually requires investigations of the CSF. This group should be considered in children with neurological problems when basic metabolic investigations are normal.
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© 2010 Springer-Verlag Berlin Heidelberg
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Hoffmann, G.F. (2010). Neurotransmitter Defects and Related Disorders. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_3
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DOI: https://doi.org/10.1007/978-3-540-74723-9_3
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