Pyridoxine responsiveness in novel mutations of the PNPO gene

Neurology. 2015 Jan 20;84(3):329. doi: 10.1212/WNL.0000000000001147.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Animals
  • Brain Diseases, Metabolic / drug therapy*
  • Brain Diseases, Metabolic / genetics*
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Hypoxia-Ischemia, Brain / drug therapy*
  • Hypoxia-Ischemia, Brain / genetics*
  • Male
  • Pyridoxaminephosphate Oxidase / deficiency*
  • Pyridoxine / therapeutic use*
  • Seizures / drug therapy*
  • Seizures / genetics*

Substances

  • Pyridoxaminephosphate Oxidase
  • Pyridoxine