Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Clinical ex...

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Detalles Bibliográficos
Autores principales: Mohanlal, Smilu, Bindu, Parayil Sankaran, Sureshbabu, Sachin, Kumar, Suresh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210397/
https://www.ncbi.nlm.nih.gov/pubmed/32395712
http://dx.doi.org/10.1016/j.ebr.2020.100357

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210397/
https://www.ncbi.nlm.nih.gov/pubmed/32395712
http://dx.doi.org/10.1016/j.ebr.2020.100357

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