Molecular investigation in Chinese patients with primary carnitine deficiency

by Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang
Published 2019-09-01

C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China

by Yiming Lin, Zhantao Yang, Chiju Yang, Haili Hu, Haiyan He, Tingting Niu, Mingfang Liu, Dongjuan Wang, Yun Sun, Yuyan Shen, Xiaole Li, Huiming Yan, Yuanyuan Kong, Xinwen Huang
Published 2021-05-01