EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.1.1.211 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
16414039 |
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects. |
causal interaction diagnostic usage unassigned |
4 2 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
1744086 |
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. |
causal interaction unassigned |
4 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
7846063 |
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. |
causal interaction ongoing research therapeutic application unassigned |
4 2 1 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
7967472 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 4 1 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
9535636 |
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
11719334 |
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. |
causal interaction unassigned |
4 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
16188860 |
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland. |
causal interaction unassigned |
2 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
23430857 |
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. |
causal interaction diagnostic usage unassigned |
4 3 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
30136145 |
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. |
causal interaction therapeutic application unassigned |
3 1 0 |
1.1.1.211 | 3-hydroxyacyl-coa dehydrogenase deficiency |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |