title: Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
authors.affiliation: Children's Hospital, Eastern Switzerland, St. Gallen, Switzerland.
authors.forename: K E
authors.initials: KE
authors.lastname: Baerlocher
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: A
authors.initials: A
authors.lastname: Aguzzi
authors.forename: S
authors.initials: S
authors.lastname: Krähenbühl
authors.forename: C R
authors.initials: CR
authors.lastname: Roe
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
mesh_terms: 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
chemical_list: D044944:Acyl-CoA Dehydrogenases