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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| Huvudupphov: | , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Pediatric Neurology Briefs Publishers
2014-06-01
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| Serie: | Pediatric Neurology Briefs |
| Ämnen: | |
| Länkar: | https://www.pediatricneurologybriefs.com/articles/154 |
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