A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on t...

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Detalles Bibliográficos
Autores principales: Dowa, Yuri, Shiihara, Takashi, Akiyama, Tomoyuki, Hasegawa, Kosei, Inoue, Fumitaka, Watanabe, Mio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202051/
https://www.ncbi.nlm.nih.gov/pubmed/32395249
http://dx.doi.org/10.1093/omcr/omaa008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202051/
https://www.ncbi.nlm.nih.gov/pubmed/32395249
http://dx.doi.org/10.1093/omcr/omaa008

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