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Results 1 - 10 of 586 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-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
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-hydroxyacyl-coa dehydrogenase deficiency 1744086 Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-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
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-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
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-hydroxyacyl-coa dehydrogenase deficiency 9535636 Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. causal interaction
therapeutic application
unassigned
4
1
0
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-hydroxyacyl-coa dehydrogenase deficiency 11719334 Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-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
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-hydroxyacyl-coa dehydrogenase deficiency 23430857 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. causal interaction
diagnostic usage
unassigned
4
3
0
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-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
Display the word mapDisplay the reaction diagram Show all sequences 1.1.1.2113-hydroxyacyl-coa dehydrogenase deficiency 31241292 Epidemiology of rare diseases detected by newborn screening in the Czech Republic. causal interaction
unassigned
4
0
Results 1 - 10 of 586 > >>