Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Köppel
S
S
Department of Neurology, Klinikum Nord-Heidberg, Hamburg, Germany.
Gottschalk
J
J
Hoffmann
G F
GF
Waterham
H R
HR
Blobel
H
H
Kölker
S
S
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D003951:Diagnostic Errors; D044927:Electron-Transferring Flavoproteins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D008875:Middle Aged; D009135:Muscular Diseases / Q000209:etiology*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; D002331:Carnitine