Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy

Several variants of the enzyme pyridox(am)ine 5′-phosphate oxidase (PNPO), responsible for a rare form of vitamin B(6)-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have been characterised with respect to their structura...

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Detalles Bibliográficos
Autores principales: Barile, Anna, Mills, Philippa, di Salvo, Martino L., Graziani, Claudio, Bunik, Victoria, Clayton, Peter, Contestabile, Roberto, Tramonti, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584306/
https://www.ncbi.nlm.nih.gov/pubmed/34769443
http://dx.doi.org/10.3390/ijms222112013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584306/
https://www.ncbi.nlm.nih.gov/pubmed/34769443
http://dx.doi.org/10.3390/ijms222112013

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