L L Kang, Y P Liu, M Shen, Z H Chen, J Q Song, R X He, Y Liu, Y Zhang, H Dong, M Q Li, Y Jin, H Zheng, Q Wang, Y Ding, X Y Li, D X Li, H X Li, X Q Liu, H J Xiao, Y W Jiang, H Xiong, C Y Zhang, Z X Wang, Y Yuan, D S Liang, Y P Tian, Y L Yang
Objectives: To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention. Methods: Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR...
June 2, 2020: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics