title: [Phenylketonuria in spite of screening].
abstract: A girl with psychomotor retardation is described in whom the diagnosis phenylketonuria (PKU) was made at the age of 6.5 years. Previous investigations were not carried out as she was screened for PKU when she was a baby. Since the nationwide neonatal screening for PKU was started in 1974, 4 children have been detected with a false negative test result.
authors.affiliation: Afd. Kindergeneeskunde, Academisch Ziekenhuis, Leiden.
authors.forename: P D
authors.initials: PD
authors.lastname: Maaswinkel-Mooij
authors.forename: J E
authors.initials: JE
authors.lastname: Kist-van Holthe tot Echten
authors.forename: J A
authors.initials: JA
authors.lastname: Maat-Kievit
mesh_terms: D002446:Celiac Disease / Q000175:diagnosis; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology*; D003937:Diagnosis, Differential; D005188:False Negative Reactions; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D010661:Phenylketonurias / Q000097:blood* / Q000150:complications* / Q000178:diet therapy