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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...

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Detalles Bibliográficos
Autores principales:	Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789384/ https://www.ncbi.nlm.nih.gov/pubmed/27014579 http://dx.doi.org/10.1016/j.ymgmr.2016.01.004

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