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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...
Autores principales: | Aquilano, Giulia, Linnér, Agnes, Ygberg, Sofia, Stödberg, Tommy, Henckel, Ewa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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