Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
一名携带双等位基因HPDL变异的患者接受生酮饮食治疗后,其MRI影像出现类似Leigh综合征的改变。
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2021.100800
Numata-Uematsu, Yurika; Uematsu, Mitsugu; Yamamoto, Toshiyuki; Saitsu, Hirotomo; Katata, Yu; Oikawa, Yoshitsugu; Saijyo, Naoya; Inui, Takehiko; Murayama, Kei; Ohtake, Akira; Osaka, Hitoshi; Takanashi, Jun-Ichi; Kure, Shigeo; Inoue, Ken