Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

par Weifeng Zhang, Yanru Chen, Chunmei Lin, Weilin Peng, Qingliu Fu, Yiming Lin
Publié 2021

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

par Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang
Publié 2021