Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

Clin Chim Acta. 1979 Apr 16;93(2):251-62. doi: 10.1016/0009-8981(79)90097-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dose-Response Relationship, Drug
  • Female
  • Humans
  • Male
  • Phenylalanine / blood
  • Phenylketonurias / diagnosis
  • Phenylketonurias / drug therapy
  • Phenylketonurias / enzymology*
  • Pterins / deficiency*
  • Pterins / therapeutic use
  • Pterins / urine

Substances

  • Pterins
  • Phenylalanine