Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

Eur J Pediatr. 1999 Jan;158(1):83-4. doi: 10.1007/s004310051018.
No abstract available

Publication types

  • Letter

MeSH terms

  • Female
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Italy
  • Mutation
  • Neonatal Screening
  • Pedigree
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonuria, Maternal / blood
  • Phenylketonuria, Maternal / genetics*
  • Phenylketonurias / genetics
  • Pregnancy

Substances

  • Phenylalanine
  • Phenylalanine Hydroxylase