article · 2008
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose‐1P uridylyltransferase segregating in a single family
Classic galactosaemia is a potentially lethal inborn error of metabolism that results from profound impairment of galactose-1P uridylyltransferase (GALT). Li...
16 citationsDOI: https://doi.org/10.1007/s10545-007-0786-5