EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.5.1.26 | amidase deficiency |
8322015 |
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions. |
causal interaction
unassigned |
4
0 |
| 3.5.1.26 | Anemia, Sickle Cell |
18434967 |
Gardos pathway to sickle cell therapies? |
causal interaction
therapeutic application
unassigned |
2
4
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
942387 |
Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria. |
diagnostic usage
ongoing research
unassigned |
3
3
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1126041 |
Studies on N-aspartyl-beta-glucosaminidase in aspartylglycosaminuria. |
ongoing research
unassigned |
4
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1427775 |
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
3
3
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1505217 |
Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype. |
causal interaction
unassigned |
4
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1530592 |
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. |
diagnostic usage
ongoing research
unassigned |
3
4
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1559710 |
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. |
causal interaction
unassigned |
2
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1577713 |
Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease. |
causal interaction
unassigned |
3
0 |
| 3.5.1.26 | Aspartylglucosaminuria |
1703489 |
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. |
ongoing research
unassigned |
2
0 |
