title: A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.
authors.affiliation: Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Fumiko
authors.initials: F
authors.lastname: Yamamoto
authors.affiliation: Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan. Electronic address: nakamagoek@md.tsukuba.ac.jp.
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Nakamagoe
authors.affiliation: Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamada
authors.affiliation: Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Ishii
authors.affiliation: Department of Dermatology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.
authors.forename: Junichi
authors.initials: J
authors.lastname: Furuta
authors.affiliation: Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.affiliation: Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Tamaoka
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain; C467805:ACADVL protein, human
keywords: ACADVL gene; Acylcarnitine analysis; Adult onset; Rhabdomyolysis; Very long-chain acyl-coenzyme A dehydrogenase deficiency