Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5′‐phosphate (PLP)‐vitamin‐responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre‐maturity and fetal distress, combine...

Descripción completa

Detalles Bibliográficos
Autores principales: Alghamdi, Malak, Bashiri, Fahad A., Abdelhakim, Marwa, Adly, Nouran, Jamjoom, Dima Z., Sumaily, Khalid M., Alghanem, Bandar, Arold, Stefan T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820968/
https://www.ncbi.nlm.nih.gov/pubmed/32888189
http://dx.doi.org/10.1111/cge.13843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820968/
https://www.ncbi.nlm.nih.gov/pubmed/32888189
http://dx.doi.org/10.1111/cge.13843

Ejemplares similares