EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.4.1.27 | Acidosis, Lactic |
25918518 |
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. |
therapeutic application unassigned |
1 0 |
1.4.1.27 | Acidosis, Lactic |
27785568 |
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. |
unassigned |
0 |
1.4.1.27 | Brain Diseases |
32176929 |
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report. |
causal interaction therapeutic application unassigned |
3 2 0 |
1.4.1.27 | Brain Diseases, Metabolic |
11754333 |
Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant. |
causal interaction unassigned |
3 0 |
1.4.1.27 | Carcinogenesis |
22073143 |
Serine biosynthesis with one carbon catabolism and the glycine cleavage system represents a novel pathway for ATP generation. |
therapeutic application unassigned |
1 0 |
1.4.1.27 | Cystinosis |
7289883 |
Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of glycine cleavage system in vitro. |
causal interaction therapeutic application unassigned |
2 3 0 |
1.4.1.27 | Dehydration |
30496539 |
Gene expression analysis in Eucalyptus globulus exposed to drought stress in a controlled and a field environment indicates different strategies for short- and longer-term acclimation. |
therapeutic application unassigned |
1 0 |
1.4.1.27 | Epilepsies, Myoclonic |
28462797 |
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. |
causal interaction diagnostic usage unassigned |
3 2 0 |
1.4.1.27 | Genetic Diseases, Inborn |
29046206 |
[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene]. |
causal interaction unassigned |
3 0 |
1.4.1.27 | glycine cleavage system deficiency |
8742393 |
[Non-ketotic hyperglycinemia. Transient neonatal form] |
causal interaction unassigned |
4 0 |