Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

por Du, Juan, Dou, Li-Min, Jin, Yong-Hong, Wen, Qing-Fen, Lin, Ya-Fen, Wang, Jian-She
Publicado 2022

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

por Li, Jia-Qi, Qiu, Yi-Ling, Gong, Jing-Yu, Dou, Li-Min, Lu, Yi, Knisely, A. S., Zhang, Mei-Hong, Luan, Wei-Sha, Wang, Jian-She
Publicado 2017