[Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation]

Rev Neurol. 2017 Oct 1;65(7):335-336.
[Article in Spanish]

Abstract

Title: Anemia fetal grave y encefalopatia epileptica neonatal causada por una nueva mutacion en el gen PNPO.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia / complications
  • Anemia / embryology
  • Anemia / genetics*
  • Brain Diseases, Metabolic / complications
  • Brain Diseases, Metabolic / genetics*
  • Female
  • Fetal Diseases / genetics*
  • Humans
  • Hypoxia-Ischemia, Brain / complications
  • Hypoxia-Ischemia, Brain / genetics*
  • Infant, Newborn
  • Mutation*
  • Pyridoxaminephosphate Oxidase / deficiency*
  • Pyridoxaminephosphate Oxidase / genetics*
  • Seizures / complications
  • Seizures / genetics*
  • Severity of Illness Index

Substances

  • Pyridoxaminephosphate Oxidase

Supplementary concepts

  • Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency