EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.3.1.1 | amino-acid n-acetyltransferase deficiency |
1405478 |
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders. |
causal interaction
unassigned |
4
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
1562355 |
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
1
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
1779615 |
N-acetylglutamate synthetase deficiency: clinical and laboratory observations. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
1
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
2044610 |
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
2373115 |
Late-onset form of partial N-acetylglutamate synthetase deficiency. |
causal interaction
therapeutic application
unassigned |
4
2
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
3139931 |
N-acetylglutamate synthetase deficiency, a second patient. |
causal interaction
unassigned |
4
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
3936265 |
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency. |
causal interaction
unassigned |
4
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
7453791 |
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. |
causal interaction
unassigned |
4
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
7623444 |
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. |
causal interaction
unassigned |
4
0 |
| 2.3.1.1 | amino-acid n-acetyltransferase deficiency |
9427158 |
N-Acetylglutamate synthetase deficiency responding to carbamylglutamate. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
