Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
Baerlocher
K E
KE
Children's Hospital, Eastern Switzerland, St. Gallen, Switzerland.
Steinmann
B
B
Aguzzi
A
A
Krähenbühl
S
S
Roe
C R
CR
Vianey-Saban
C
C
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005951:Glucose Tolerance Test; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology; D009123:Muscle Hypotonia / Q000201:enzymology / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D012140:Respiratory Tract Diseases / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D012600:Scoliosis / Q000201:enzymology* / Q000235:genetics
D044944:Acyl-CoA Dehydrogenases