Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect – First case report from Pakistan and review of literature

INTRODUCTION: The Vitamin B6-dependent epilepsies are a heterogeneous group of autosomal recessive disorders usually characterized by neonatal onset seizures responsive to treatment with vitamin B6 available as pyridoxine (PN) or as the biologically active form pyridoxal 5-phosphate (PLP). The vitam...

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Detalles Bibliográficos
Autores principales: Ahmed, Sibtain, DeBerardinis, Ralph J., Ni, Min, Afroze, Bushra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779953/
https://www.ncbi.nlm.nih.gov/pubmed/33425341
http://dx.doi.org/10.1016/j.amsu.2020.11.079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779953/
https://www.ncbi.nlm.nih.gov/pubmed/33425341
http://dx.doi.org/10.1016/j.amsu.2020.11.079

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