Wird geladen...
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
Pyridox(am)ine-5′-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5′-phosphate oxidase gene presenting with neonatal seizure...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2009
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3028287/ https://ncbi.nlm.nih.gov/pubmed/21686393 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.11.2008.1247 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|