Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.
Rinaldo
P
P
Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.
O'Shea
J J
JJ
Goodman
S I
SI
Miller
L V
LV
Fennessey
P V
PV
Whelan
D T
DT
Hill
R E
RE
Tanaka
K
K
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000215:Acylation; D015415:Biomarkers / Q000652:urine*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000652:urine*; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D012016:Reference Values
D015415:Biomarkers; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine; D005998:Glycine