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A case for newborn screening for pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement, and most patients achieve adequate seizure control with pyridoxine al...

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Detalles Bibliográficos
Autores principales:	Coughlin, Curtis R., Tseng, Laura A., van Karnebeek, Clara D.M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958922/ https://www.ncbi.nlm.nih.gov/pubmed/35217564 http://dx.doi.org/10.1101/mcs.a006197

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