eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | galactose epimerase deficiency |
| Comorbidity | C0016952|galactosemia |
| Sentences | 2 |
| PubMedID- 20725869 | The rarest and most poorly understood form of galactosemia is due to epimerase deficiency. |
| PubMedID- 24578239 | Background: distinction between asymptomatic and potentially clinically significant forms of galactosemia due to udp-galactose 4'-epimerase (gale) deficiency requires enzyme measurement in erythrocytes and other cells. |
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