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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...
Autores principales: | Ahmed, Sibtain, DeBerardinis, Ralph J., Ni, Min, Afroze, Bushra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
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 |
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