Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU

J Inherit Metab Dis. 1994;17(3):362-5. doi: 10.1007/BF00711831.
No abstract available

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA / analysis
  • Genotype
  • Humans
  • Phenotype
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / diagnosis
  • Phenylketonurias / enzymology
  • Phenylketonurias / genetics*
  • Phenylketonurias / therapy
  • Polymerase Chain Reaction

Substances

  • Phenylalanine
  • DNA
  • Phenylalanine Hydroxylase