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.

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Web Reviews

• GALT Protein Database
• Genetics Home Reference - GALT
• SaveBabies.org
• University of Bristol - GALT

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.