Complexities of pyridoxine response in PNPO deficiency

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient r...

Descripción completa

Detalles Bibliográficos
Autores principales: Farmania, Rajni, Gupta, Ankit, Ankur, Kumar, Chetry, Sanjeev, Sharma, Suvasini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082192/
https://www.ncbi.nlm.nih.gov/pubmed/33981986
http://dx.doi.org/10.1016/j.ebr.2021.100443

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082192/
https://www.ncbi.nlm.nih.gov/pubmed/33981986
http://dx.doi.org/10.1016/j.ebr.2021.100443

Ejemplares similares