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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| 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 |