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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...
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| Pubblicato in: | Ann Med Surg (Lond) |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7779953/ https://ncbi.nlm.nih.gov/pubmed/33425341 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.amsu.2020.11.079 |
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