Haiyan Ma, Zezhong Tang, Feifan Xiao, Long Li, Yangfang Li, Wenyan Tang, Liping Chen, Wenqing Kang, Yulan Lu, Xinran Dong, Guoqiang Cheng, Laishuan Wang, Wei Lu, Lin Yang, Qi Ni, Xiaomin Peng, Yao Wang, Yun Cao, Bingbing Wu, Wenhao Zhou, Deyi Zhuang, Guang Lin, Huijun Wang
Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs). Complex etiologies and atypical clinical signs make diagnosis difficult; thus, it is crucial to investigate the underlying causes of NMA rapidly and provide disorder-specific therapies. Our study aims to provide an overview of the genetic causes of NMA in patients from NICUs. We performed next-generation sequencing (NGS) on neonates with NMA from January 2016 to December 2019...
2021: Frontiers in Pediatrics