Published 2014 | Version v1.0.0
Journal Article Open
Pyridoxine Responsiveness and PNPO Gene Mutations
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.
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2014When the item was originally created.