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

• Authors: G Corsello, P Bosco, F Calì, D Greco, M Cammarata, M Ciaccio, M Piccione, V Romano
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 158 Issue 1 Pg. 83-4 (Jan 1999) ISSN: 0340-6199 [Print] Germany
• PMID: 9950317 (Publication Type: Letter)

Chemical References

• Phenylalanine
• Phenylalanine Hydroxylase

Topics

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