Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

J Hum Genet. 2019 Feb;64(2):67-71. doi: 10.1038/s10038-018-0529-5. Epub 2018 Nov 30.
No abstract available

Publication types

  • Review

MeSH terms

  • Animals
  • Biopterin / analogs & derivatives*
  • Biopterin / therapeutic use
  • Humans
  • Phenylalanine Hydroxylase / deficiency*
  • Phenylketonurias / drug therapy*
  • Phenylketonurias / enzymology
  • Phenylketonurias / pathology
  • Prognosis

Substances

  • Biopterin
  • Phenylalanine Hydroxylase
  • sapropterin