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References

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

Berry GT, Reynolds RA, Yager CT, Segal S. Extended [13C]galactose oxidation studies in patients with galactosemia. Mol Genet Metab. 2004 Jun;82(2):130-6. PubMed citation
Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005 May;25(5):502. PubMed citation
Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006 Aug;29(4):516-25. Epub 2006 Jul 11. Review. PubMed citation
Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn. 2003 Feb;5(1):42-7. PubMed citation
Entrez Gene
Fridovich-Keil JL. Galactosemia: the good, the bad, and the unknown. J Cell Physiol. 2006 Dec;209(3):701-5. Review. 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
Suzuki M, West C, Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet. 2001 Aug;109(2):210-5. PubMed citation


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