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GALT References

The web links shown below are existing online resources for GALT mutations. Links to several peer-reviewed papers are given as well, including some of the original reports of the GALT mutation and recent research on galactosemia.

Please contact us to suggest additional content for this page.

Web Reviews

  • GALT Protein Database
  • Genetics Home Reference - GALT
  • SaveBabies.org

Peer-Reviewed Literature

  • JK Reichardt, et al. Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med. 1988 Apr;5(2):107-22.
  • LJ Elsas, et al. The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8. Review.
  • Linda Tyfield, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417-30. Review.
  • ND Leslie. Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 2003;23:59-80.
  • AM Bosch, et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005 May;25(5):502.
  • D Barbouth, et al. Prevention of a molecular misdiagnosis in galactosemia. Genet Med. 2006 Mar;8(3):178-82.

  • GALT Medical Director
    Rong Mao, MD
    Co-Medical Director - Molecular Genetics
    (801) 583-2787, x3165
  • GALT Curator
    Fernanda Calderon, MS
    Database Curator
    (503) 512-9706
  • GALT Clinical Testing
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