title: Selective screening for neonatal galactosemia: an alternative approach.
abstract: No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests done; 17 were symptomatic at the time of diagnosis.
  
  
  CONCLUSIONS
  We suggest that improved clinical vigilance and selective screening would identify most infants with severe galactosemia as early as a population-based program.
authors.affiliation: Division of Neonatology, The Hospital for Sick Children and University of Toronto, Canada.
authors.forename: V
authors.initials: V
authors.lastname: Shah
authors.forename: S
authors.initials: S
authors.lastname: Friedman
authors.forename: A M
authors.initials: AM
authors.lastname: Moore
authors.forename: B A
authors.initials: BA
authors.lastname: Platt
authors.forename: A S
authors.initials: AS
authors.lastname: Feigenbaum
mesh_terms: D015415:Biomarkers / Q000032:analysis; D002170:Canada / Q000453:epidemiology; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D012189:Retrospective Studies; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000032:analysis*
chemical_list: D015415:Biomarkers; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase