EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   6.3.4.10 | Acidosis |
8541348 |
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 6.3.4.10 | Acidosis |
16650223 |
Holocarboxylase synthetase deficiency presenting as ichthyosis. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
1
1
1 |
| 6.3.4.10 | Acidosis |
19357990 |
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 6.3.4.10 | Acidosis |
27518780 |
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. |
causal interaction
unassigned |
3
0 |
| 6.3.4.10 | 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 |
| 6.3.4.10 | Acidosis, Lactic |
9183268 |
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 6.3.4.10 | acyl-coa dehydrogenase deficiency |
2507694 |
Vitamins and inherited human errors of metabolism. |
causal interaction
unassigned |
2
0 |
| 6.3.4.10 | biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency |
2501583 |
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 6.3.4.10 | biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency |
2507694 |
Vitamins and inherited human errors of metabolism. |
causal interaction
unassigned |
2
0 |
| 6.3.4.10 | biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency |
2515372 |
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. |
causal interaction
ongoing research
unassigned |
4
3
0 |
