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Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse

Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initiall...

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Detalles Bibliográficos
Autores principales: Aquilano, Giulia, Linnér, Agnes, Ygberg, Sofia, Stödberg, Tommy, Henckel, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366515/
https://www.ncbi.nlm.nih.gov/pubmed/35967578
http://dx.doi.org/10.3389/fped.2022.940103