A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bagci, S, Zschocke, J, Hoffmann, G F, Bast, T, Klepper, J, Müller, A, Heep, A, Bartmann, P, Franz, A R
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
Assuntos:
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!