EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.7.7.10 | Adrenoleukodystrophy |
29680633 |
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. |
diagnostic usage
unassigned |
4
0 |
| 2.7.7.10 | Apraxias |
11397328 |
Outcomes analysis of verbal dyspraxia in classic galactosemia. |
unassigned |
0 |
| 2.7.7.10 | biotinidase deficiency |
29680633 |
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. |
diagnostic usage
diagnostic usage
unassigned
unassigned |
4
4
0
0 |
| 2.7.7.10 | Blepharophimosis |
12398227 |
Genetic disorders in premature ovarian failure. |
therapeutic application
unassigned |
1
0 |
| 2.7.7.10 | Brain Diseases |
11174626 |
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. |
therapeutic application
unassigned |
1
0 |
| 2.7.7.10 | Bronchopulmonary Dysplasia |
33003189 |
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity. |
therapeutic application
unassigned |
1
0 |
| 2.7.7.10 | Capsule Opacification |
7352874 |
Presenile cataract formation and decreased activity of galactosemic enzymes. |
causal interaction
diagnostic usage
unassigned |
1
3
0 |
| 2.7.7.10 | Carcinoma, Ovarian Epithelial |
2567871 |
Galactose consumption and metabolism in relation to the risk of ovarian cancer. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
3
4
1
0 |
| 2.7.7.10 | Carcinoma, Ovarian Epithelial |
22749219 |
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk. |
causal interaction
diagnostic usage
ongoing research
unassigned |
2
4
3
0 |
| 2.7.7.10 | Cataract |
164335 |
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)] |
unassigned |
0 |
