Nalaganje...
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...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
2009
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| Teme: | |
| Online dostop: | 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 |
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