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References

These sources were used to develop the Genetics Home Reference condition summary on galactosemia.

Arn PH. Galactosemia. Curr Treat Options Neurol. 2003 Jul;5(4):343-345. 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
Fridovich-Keil JL. Galactosemia: the good, the bad, and the unknown. J Cell Physiol. 2006 Dec;209(3):701-5. Review. PubMed citation
Gene Review: Galactosemia
Lai K, Willis AC, Elsas LJ. The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase. J Biol Chem. 1999 Mar 5;274(10):6559-66. 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
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan;78(1):89-102. Epub 2005 Nov 14. PubMed citation
Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol. 2005 Sep;33(3):153-61. 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