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Results 1 - 10 of 1042 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.73-hydroxyacyl-coa dehydrogenase deficiency 1744086 Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. causal interaction
unassigned
4
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.73-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
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.73-hydroxyacyl-coa dehydrogenase deficiency 31241292 Epidemiology of rare diseases detected by newborn screening in the Czech Republic. causal interaction
unassigned
4
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7Abetalipoproteinemia 18215202 Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency. causal interaction
therapeutic application
unassigned
4
1
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7acetyl-coa c-acyltransferase deficiency 10626578 Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. causal interaction
unassigned
3
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7acetyl-coa c-acyltransferase deficiency 10755375 Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. causal interaction
diagnostic usage
unassigned
4
3
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7acetyl-coa c-acyltransferase deficiency 29402417 A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry. causal interaction
diagnostic usage
unassigned
4
3
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7Acidosis 2347356 Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. causal interaction
diagnostic usage
therapeutic application
unassigned
4
2
4
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7Acidosis 3793003 Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. causal interaction
diagnostic usage
unassigned
4
2
0
Show all pathways known for 1.3.8.7Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.7Acidosis, Lactic 10626578 Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. causal interaction
unassigned
3
0
Results 1 - 10 of 1042 > >>