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References

These sources were used to develop the Genetics Home Reference gene summary on the GALK1 gene.

Entrez Gene
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
Holden HM, Thoden JB, Timson DJ, Reece RJ. Galactokinase: structure, function and role in type II galactosemia. Cell Mol Life Sci. 2004 Oct;61(19-20):2471-84. 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
Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. PubMed citation
Thoden JB, Holden HM. The molecular architecture of human N-acetylgalactosamine kinase. J Biol Chem. 2005 Sep 23;280(38):32784-91. Epub 2005 Jul 8. PubMed citation
Timson DJ, Reece RJ. Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. PubMed citation
Timson DJ, Reece RJ. Sugar recognition by human galactokinase. BMC Biochem. 2003 Nov 4;4:16. PubMed citation

Reviewed: January 2008

Published: May 13, 2013