EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.5.1.12 | 3-hydroxyacyl-coa dehydrogenase deficiency |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction
unassigned |
4
0 |
| 3.5.1.12 | Abetalipoproteinemia |
32606520 |
Vitamin-Responsive Movement Disorders in Children. |
causal interaction
unassigned |
4
0 |
| 3.5.1.12 | acetyl-coa c-acyltransferase deficiency |
7726385 |
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. |
causal interaction
unassigned |
4
0 |
| 3.5.1.12 | Acidosis |
3783319 |
Multiple carboxylase deficiency due to deficiency of biotinidase. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
2
0 |
| 3.5.1.12 | Acidosis |
9433861 |
Biotinidase deficiency: two cases of very early presentation. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
4
0 |
| 3.5.1.12 | Acidosis |
10932969 |
Biotinidase deficiency--a treatable entity. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
2
3
3
1 |
| 3.5.1.12 | Acidosis |
32300527 |
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 3.5.1.12 | Acidosis, Lactic |
3234447 |
"Cerebral" lactic acidosis and biotinidase deficiency. |
unassigned |
0 |
| 3.5.1.12 | Acidosis, Lactic |
15711955 |
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
2
4
0 |
| 3.5.1.12 | Acidosis, Lactic |
31665838 |
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
