A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency

Indian J Pediatr. 2019 Aug;86(8):752-753. doi: 10.1007/s12098-019-02900-z. Epub 2019 Feb 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Dystonia / drug therapy*
  • Dystonia / genetics*
  • Female
  • GTP Cyclohydrolase / deficiency*
  • GTP Cyclohydrolase / genetics
  • Humans
  • India
  • Infant
  • Magnetic Resonance Imaging
  • Mutation

Substances

  • GCH1 protein, human
  • GTP Cyclohydrolase