
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

References

These sources were used to develop the Genetics Home Reference gene summary on the GALE gene.

Entrez Gene
Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL. A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. Clin Genet. 2001 Nov;60(5):350-5. PubMed citation
Holden HM, Rayment I, Thoden JB. Structure and function of enzymes of the Leloir pathway for galactose metabolism. J Biol Chem. 2003 Nov 7;278(45):43885-8. Epub 2003 Aug 15. Review. PubMed citation
Leslie ND. Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 2003;23:59-80. Epub 2003 Apr 9. Review. PubMed citation
Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. Review. PubMed citation
Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL. Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase. J Biol Chem. 2004 Jul 30;279(31):32796-803. Epub 2004 Jun 2. PubMed citation
Timson DJ. Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. FEBS J. 2005 Dec;272(23):6170-7. PubMed citation
Timson DJ. The structural and molecular biology of type III galactosemia. IUBMB Life. 2006 Feb;58(2):83-9. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013