EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.4.1.4 | acetyl-coa c-acetyltransferase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 6.4.1.4 | 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 |
| 6.4.1.4 | acyl-coa dehydrogenase deficiency |
27727436 |
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
| 6.4.1.4 | acyl-coa dehydrogenase deficiency |
28054209 |
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. |
causal interaction
unassigned |
1
0 |
| 6.4.1.4 | acyl-coa dehydrogenase deficiency |
31737040 |
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. |
causal interaction
therapeutic application
unassigned |
2
2
0 |
| 6.4.1.4 | Adenoma |
7560167 |
Quantification of proliferative activity in colorectal adenomas by mitotic counts: relationship to degree of dysplasia and histological type. |
diagnostic usage
unassigned |
1
0 |
| 6.4.1.4 | Anaphylaxis |
29148756 |
Inhibitory Activities of Compounds from the Marine Actinomycete Williamsia sp. MCCC 1A11233 Variant on IgE-Mediated Mast Cells and Passive Cutaneous Anaphylaxis. |
ongoing research
unassigned |
2
0 |
| 6.4.1.4 | Biotinidase Deficiency |
6434837 |
The management and long term outcome of organic acidaemias. |
causal interaction
causal interaction
therapeutic application
therapeutic application
unassigned
unassigned |
3
3
1
1
0
0 |
| 6.4.1.4 | biotinidase deficiency |
16398167 |
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands] |
causal interaction
causal interaction
unassigned
unassigned |
4
4
0
0 |
| 6.4.1.4 | Brain Diseases |
15877210 |
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. |
causal interaction
unassigned |
4
0 |
