title: A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: J W
authors.initials: JW
authors.lastname: Yun
authors.forename: K I
authors.initials: KI
authors.lastname: Jo
authors.forename: H I
authors.initials: HI
authors.lastname: Woo
authors.forename: S-Y
authors.initials: SY
authors.lastname: Lee
authors.forename: C-S
authors.initials: CS
authors.lastname: Ki
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
authors.forename: J
authors.initials: J
authors.lastname: Song
authors.forename: D H
authors.initials: DH
authors.lastname: Lee
authors.forename: Y-W
authors.initials: YW
authors.lastname: Lee
authors.forename: H-D
authors.initials: HD
authors.lastname: Park
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D044944:Acyl-CoA Dehydrogenases / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007723:Korea; D009154:Mutation
chemical_list: D044944:Acyl-CoA Dehydrogenases; C122081:ACAD8 protein, human; D042964:Acyl-CoA Dehydrogenase