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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

B Jaeger1, N G Abeling2, G S Salomons3

  • 1Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.

Molecular Genetics and Metabolism Reports
|March 26, 2016
PubMed

Keywords:
AntiquitinCSF, cerebrospinal fluidEpilepsyNeonatalPDE, (classic) pyridoxine dependent epilepsyPLP, pyridoxal-5′-phosphatePLP-DE, pyridoxal-phosphate dependent epilepsyPNPOPNPO, pyridox(am)ine-5′-phosphate oxidasePyridoxal-phosphatePyridoxineα-AASA, alpha-aminoadipic semialdehyde dehydrogenase

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