Molecular characterization of pyridoxine 5′-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy

Defects of vitamin B(6) metabolism are responsible for severe neurological disorders, such as pyridoxamine 5′-phosphate oxidase deficiency (PNPOD; OMIM: 610090), an autosomal recessive inborn error of metabolism that usually manifests with neonatal-onset severe seizures and subsequent encephalopathy...

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Detalles Bibliográficos
Autores principales: Barile, Anna, Nogués, Isabel, di Salvo, Martino L., Bunik, Victoria, Contestabile, Roberto, Tramonti, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424515/
https://www.ncbi.nlm.nih.gov/pubmed/32788630
http://dx.doi.org/10.1038/s41598-020-70598-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424515/
https://www.ncbi.nlm.nih.gov/pubmed/32788630
http://dx.doi.org/10.1038/s41598-020-70598-7

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