Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test

Autor: Chen, Hui-An, Hsu, Rai-Hseng, Chen, Yu-Han, Hsu, Li-Wen, Chiang, Shu-Chang, Lee, Ni-Chung, Hwu, Wuh-Liang, Chiu, Pao-Chin, Chien, Yin-Hsiu *
Zdroj: In Molecular Genetics and Metabolism August 2022 136(4):330-336
Databáze: ScienceDirect