Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
成人发病型复发性横纹肌溶解症伴极长链酰基辅酶A脱氢酶缺乏症,由复合杂合ACADVL突变引起
期刊:Internal Medicine
影响因子:1.1
doi:10.2169/internalmedicine.4604-20
Fuseya, Yasuhiro; Sakurai, Takeyo; Miyahara, Jun-Ichi; Sato, Kei; Kaji, Seiji; Saito, Yoshihiko; Takahashi, Makio; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Yamashita, Hirofumi