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Results 1 - 10 of 356 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.13-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 32154062 Earwax: A potentially useful medium to identify inborn errors of metabolism? causal interaction
diagnostic usage
unassigned
4
2
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1amino-acid n-acetyltransferase deficiency 15164414 Genetic approach to prenatal diagnosis in urea cycle defects. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1amino-acid n-acetyltransferase deficiency 27215558 Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1amino-acid n-acetyltransferase deficiency 28888854 Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1Amyloidosis 16121806 Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction
unassigned
1
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1Anemia 16121806 Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction
unassigned
1
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1arginase deficiency 15164414 Genetic approach to prenatal diagnosis in urea cycle defects. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1arginase deficiency 27215558 Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1arginase deficiency 29423830 Biochemical markers and neuropsychological functioning in distal urea cycle disorders. causal interaction
unassigned
4
0
Show all pathways known for 4.3.2.1Display the word mapDisplay the reaction diagram Show all sequences 4.3.2.1arginase deficiency 33614409 Physical, cognitive, and social status of patients with urea cycle disorders in Japan. causal interaction
unassigned
2
0
Results 1 - 10 of 356 > >>