Update on the treatment of vitamin B6 dependent epilepsies

@article{Mastrangelo2019UpdateOT,
  title={Update on the treatment of vitamin B6 dependent epilepsies},
  author={Mario Mastrangelo and Serena Cesario},
  journal={Expert Review of Neurotherapeutics},
  year={2019},
  volume={19},
  pages={1135 - 1147}
}
ABSTRACT Introduction: Vitamin B6 dependent epilepsies are a group of treatable diseases (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5I-phosphate. Areas covered: A critical review was conducted on the therapeutic management of all the reported patients with genetically confirmed diagnoses of diseases affecting vitamin B6… Expand
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