EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.1.3.4 | acetyl-coa c-acetyltransferase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 4.1.3.4 | Acidosis |
2225463 |
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method. |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
| 4.1.3.4 | Acidosis |
7075630 |
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis. |
causal interaction
unassigned |
3
0 |
| 4.1.3.4 | Acidosis |
19932602 |
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder] |
unassigned |
0 |
| 4.1.3.4 | Acidosis |
25708061 |
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
3
2
0 |
| 4.1.3.4 | Acidosis |
25872961 |
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
4
1
1 |
| 4.1.3.4 | Acidosis |
26997609 |
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 4.1.3.4 | acyl-coa dehydrogenase deficiency |
3070367 |
[Metabolic defects with hypoketotic hypoglycemia] |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
4
0 |
| 4.1.3.4 | acyl-coa dehydrogenase deficiency |
15265419 |
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China] |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 4.1.3.4 | acyl-coa dehydrogenase deficiency |
19080473 |
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry] |
causal interaction
unassigned |
4
0 |
