Toward Improved Treatment of Classic Galactosemia
Classic Galactosemia (CG) is an autosomal recessive disorder caused by deleterious mutations of galactose-1-phosphate uridyltransferase (E.C. 2.7.7.12) (GALT) gene, which results in the inability to metabolize galactose and the accumulation of galactose-1-phosphate (gal-1-p) in patients' cells....
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| Format: | Others |
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Scholarly Repository
2010
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| Online Access: | http://scholarlyrepository.miami.edu/oa_dissertations/437 |