Article
A molecular approach to galactosemia.
European journal of pediatrics - 1 Jan 1995
Elsas L J, Langley S, Paulk E M, Hjelm L N, Dembure P P
Abstract excerpt
Classical galactosemia (G/G) is caused by the lack of galactose-1-phosphate uridyltransferase (GALT) activity. A more common clinical variant, Duarte/Classical (D/G) produces partial enzymatic impairment. Although neonatal death due to G/G galactosemia has been largely eliminated by population-based screening and intervention, long-term outcome in some is associated with impaired growth, ovarian failure,...
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