Mutant isovaleryl-CoA dehydrogenase in isovaleric acidemia cells: assay of activity and molecular characterization.
Ikeda
Y
Y
Tanaka
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology; D002460:Cell Line; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D014644:Genetic Variation; D006801:Humans; D007074:Immunoglobulin G; D050769:Isovaleryl-CoA Dehydrogenase; D008099:Liver / Q000201:enzymology; D008297:Male; D008715:Methionine / Q000378:metabolism; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011865:Radioisotope Dilution Technique; D012016:Reference Values; D012867:Skin / Q000201:enzymology; D013462:Sulfur Radioisotopes; D014316:Tritium
D007074:Immunoglobulin G; D013462:Sulfur Radioisotopes; D014316:Tritium; D008715:Methionine; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase