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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| Main Authors: | , |
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| Format: | Book |
| Published: |
Pediatric Neurology Briefs Publishers,
2014-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-28-6-2 |