Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

J Inherit Metab Dis. 2010 Apr;33(2):175-6. doi: 10.1007/s10545-010-9045-2. Epub 2010 Feb 12.
No abstract available

Publication types

  • Letter

MeSH terms

  • Estonia / epidemiology
  • Galactosemias* / diagnosis
  • Galactosemias* / epidemiology
  • Galactosemias* / genetics
  • Homicide
  • Humans
  • Incidence
  • Infant, Newborn
  • Neonatal Screening*
  • Phenotype
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • UTP-Hexose-1-Phosphate Uridylyltransferase