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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Autores principales: Bagci, S, Zschocke, J, Hoffmann, G F, Bast, T, Klepper, J, Müller, A, Heep, A, Bartmann, P, Franz, A R
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2009
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Article
Acceso en línea: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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