Disorders of Galactose Metabolism
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-642-15720-2_7
Reference48 articles.
1. Berry GT, Moate PJ, Reynolds RA et al. (2004) The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab 81:22–30
2. Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U (2004) Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab 81:31–44
3. Berry GT, Nissim I, Lin Z et al. (1995) Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 346:1073–1074
4. Calderon FR, Phansalkar AR, Crockett DK et al. (2007) Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat 28:939–943
5. Carney AE, Sanders RD, Garza KR et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Hum Mol Genet 18:1624–1632
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