Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease.
Methods We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age‐related reference ranges and to non...Expand abstract
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- Peer reviewed
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- Wiley Publisher's website
- Journal of Inherited Metabolic Disease Journal website
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- Copyright holder:
- Papandreou et al.
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- © 2018 The Author(s) This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
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