Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations - Takahashi, Makio; Sakurai, Takeyo; Sato, Kei; Kaji, Seiji; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Fuseya, Yasuhiro; Miyahara, Jun-ichi; Saito, Yoshihiko; Yamashita, Hirofumi (Internal Medicine, 2020)
Keywords: ACADVL; Acyl-CoA dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain - deficiency; Acyl-CoA Dehydrogenase, Long-Chain - genetics; Adult; Case Report; Congenital Bone Marrow Failure Syndromes - diagnosis; Congenital Bone Marrow Failure Syndromes - genetics; Congenital Bone Marrow Failure Syndromes - physiopathology; Congenital Bone Marrow Failure Syndromes - therapy; Dehydrogenases; Genetic disorders; Genetic Variation; Humans; Internal medicine; Japan; Male; Mutation; Oxidation; Rhabdomyolysis; Rhabdomyolysis - diagnosis; Rhabdomyolysis - etiology; Rhabdomyolysis - physiopathology; Rhabdomyolysis - therapy; very long-chain acyl-CoA dehydrogenase deficiency; Japan; ACADVL; rhabdomyolysis; very long-chain acyl-CoA dehydrogenase deficiency