Neonatal screening, clinical features and genetic testing for galactosemia

Genet Med. 2005 Mar;7(3):211-2. doi: 10.1097/01.GIM.0000157127.14267.DB.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Galactosemias / diagnosis*
  • Galactosemias / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Neonatal Screening*
  • Syndrome
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase