EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    5.1.3.2 | Cataract |
11258124 |
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report] |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 5.1.3.2 | Cataract |
33510604 |
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway. |
causal interaction
unassigned |
4
0 |
| 5.1.3.2 | Cysts |
15546354 |
Mutation of a UDP-glucose-4-epimerase alters nematode susceptibility and ethylene responses in Arabidopsis roots. |
causal interaction
unassigned |
1
0 |
| 5.1.3.2 | Down Syndrome |
8127065 |
UDP-galactose-4-epimerase in a boy with a trisomy 21. |
unassigned |
0 |
| 5.1.3.2 | Fanconi Syndrome |
6572355 |
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. |
unassigned |
0 |
| 5.1.3.2 | galactokinase deficiency |
29261178 |
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). |
causal interaction
unassigned |
4
0 |
| 5.1.3.2 | Galactosemias |
2403033 |
In vivo metabolism and UTP-depleting action of 2-deoxy-2-fluoro-D-galactose. |
unassigned |
0 |
| 5.1.3.2 | Galactosemias |
7318169 |
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. |
diagnostic usage
unassigned |
3
0 |
| 5.1.3.2 | Galactosemias |
7404573 |
A new mass screening method of detecting UDP-galactose-4-epimerase deficiency. |
diagnostic usage
therapeutic application
unassigned |
4
1
0 |
| 5.1.3.2 | Galactosemias |
9326324 |
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. |
ongoing research
unassigned |
1
0 |
