EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.3.8.1 | short-chain acyl-coa dehydrogenase deficiency |
26110041 |
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD). |
causal interaction therapeutic application unassigned |
4 1 0 |
1.3.8.1 | acyl-coa dehydrogenase deficiency |
14568186 |
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. |
diagnostic usage unassigned |
2 0 |
1.3.8.1 | short-chain acyl-coa dehydrogenase deficiency |
14568186 |
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. |
diagnostic usage unassigned |
2 0 |
1.3.8.1 | acyl-coa dehydrogenase deficiency |
30612563 |
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. |
causal interaction unassigned |
3 0 |
1.3.8.1 | Citrullinemia |
30612563 |
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. |
causal interaction unassigned |
3 0 |
1.3.8.1 | short-chain acyl-coa dehydrogenase deficiency |
30612563 |
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. |
causal interaction unassigned |
3 0 |
1.3.8.1 | Diabetes Mellitus, Type 2 |
20648245 |
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. |
causal interaction unassigned |
4 0 |
1.3.8.1 | Insulin Resistance |
20648245 |
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. |
causal interaction unassigned |
4 0 |
1.3.8.1 | short-chain acyl-coa dehydrogenase deficiency |
2326304 |
A murine model for short-chain acyl-CoA dehydrogenase deficiency. |
causal interaction ongoing research therapeutic application unassigned |
4 4 4 0 |
1.3.8.1 | short-chain acyl-coa dehydrogenase deficiency |
8276024 |
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. |
causal interaction therapeutic application unassigned |
4 1 0 |