PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria

Eur J Pediatr. 2000 Oct:159 Suppl 2:S154-5. doi: 10.1007/pl00014382.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Child
  • Genotype
  • Humans
  • Mutation / genetics*
  • Nutritional Requirements*
  • Phenylalanine Hydroxylase / deficiency
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / diet therapy
  • Phenylketonurias / genetics*
  • Phenylketonurias / metabolism*

Substances

  • Phenylalanine Hydroxylase