Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia

Adv Exp Med Biol. 1993:338:263-6. doi: 10.1007/978-1-4615-2960-6_53.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Biopterins / analogs & derivatives*
  • Biopterins / deficiency
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Homovanillic Acid / urine
  • Humans
  • Hydroxyindoleacetic Acid / urine
  • Infant, Newborn
  • Male
  • Mass Screening
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / epidemiology
  • Metabolism, Inborn Errors / metabolism
  • Phenylalanine / blood
  • Phenylketonurias* / diagnosis*
  • Phenylketonurias* / prevention & control
  • Portugal / epidemiology
  • Pterins / cerebrospinal fluid
  • Pterins / urine

Substances

  • Pterins
  • Biopterins
  • Phenylalanine
  • Hydroxyindoleacetic Acid
  • sapropterin
  • Homovanillic Acid