Published 2014
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Pyridoxine Responsiveness and PNPO Gene Mutations
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Abstract
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.Files
PNB-2014-28-6-2.pdf
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- PNB-2014-28-6-2
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2014When the item was originally created.