HIGHLIGHTS
SUMMARY
Revised: 12 December 2022 Accepted: 16 December 2022 Published: 20 December 2022 2 of 12 Thus, several types of galactosemia can be distinguished: type I resulting from GALT deficiency, type II resulting from GALK deficiency, type III resulting from GALE deficiency, and type IV resulting from GALM deficiency, respectively. Galactosemia caused by GALT deficiency may be further classified into three phenotypes: classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia. The major target is GALT deficiency galactosemia, which is diagnosed by assessing blood galactose concentration and erythrocyte GALT enzyme activity and, for certain programs . . .
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