Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

The first described patients with pyridox(am)ine 5’-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5’-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5’-phosph...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2014
Onderwerpen:
Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3999720/
https://ncbi.nlm.nih.gov/pubmed/24645144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu051
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items