EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.1.1.90 | 6-pyruvoyltetrahydropterin synthase deficiency |
24992243 |
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 4.1.1.90 | Acidosis |
10564238 |
In vitro metabolic and respiratory acidosis selectively inhibit osteoblastic matrix gene expression. |
ongoing research
unassigned |
2
0 |
| 4.1.1.90 | Acidosis |
17407983 |
Holocarboxylase synthetase deficiency: report of one case. |
causal interaction
unassigned |
4
0 |
| 4.1.1.90 | Acidosis |
23622402 |
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. |
causal interaction
unassigned |
4
0 |
| 4.1.1.90 | Acidosis |
25356967 |
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. |
causal interaction
unassigned |
4
0 |
| 4.1.1.90 | Acidosis |
26913920 |
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. |
unassigned |
0 |
| 4.1.1.90 | Acidosis, Lactic |
6811711 |
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
1
1
0 |
| 4.1.1.90 | Acidosis, Lactic |
6851181 |
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies. |
diagnostic usage
therapeutic application
unassigned |
4
1
0 |
| 4.1.1.90 | Acidosis, Lactic |
7198043 |
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. |
causal interaction
therapeutic application
unassigned |
4
2
0 |
| 4.1.1.90 | Acidosis, Lactic |
8884577 |
Magnetic resonance imaging in lactic acidosis. |
unassigned |
0 |
