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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes

BACKGROUND: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago. This creates a knowledge gap for physicians, pediatric patients and their...

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Detalles Bibliográficos
Autores principales:	Tseng, L.A., Teela, L., Janssen, M.C., Bok, L.A., Willemsen, M.A.A.P., Neuteboom, R.F., Haverman, L., Gospe, S.M., Coughlin, C.R., van Karnebeek, C.D.M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248223/ https://www.ncbi.nlm.nih.gov/pubmed/35782612 http://dx.doi.org/10.1016/j.ymgmr.2022.100853

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