Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
Ip
W C
WC
NSW Biochemical Genetics Service, Royal Alexandra Hospital for Children, Westmead, Australia.
Hammond
J W
JW
Wilcken
B
B
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002478:Cells, Cultured; D044927:Electron-Transferring Flavoproteins; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes / Q000172:deficiency; D009154:Mutation; D010084:Oxidation-Reduction; D000587:Oxidoreductases Acting on CH-NH Group Donors
D044927:Electron-Transferring Flavoproteins; D005227:Fatty Acids; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase