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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Abstract:

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1007/s10545-018-0227-7

Authors


Papandreou, A More by this author
Fratter, C More by this author
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Publisher:
Wiley Publisher's website
Journal:
Journal of Inherited Metabolic Disease Journal website
Volume:
41
Issue:
6
Pages:
1275-1283
Publication date:
2018-08-30
Acceptance date:
2018-06-26
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
Pubs id:
pubs:912017
URN:
uri:537226e0-69b9-4349-b819-0dfdc33a7c03
UUID:
uuid:537226e0-69b9-4349-b819-0dfdc33a7c03
Local pid:
pubs:912017
Language:
English

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