Xiaojiao Wu Jiancheng Jiao Yaofang Xia Xiaotong Yan Zehao Liu Yanyan Cao Li Ma
10.3389/fped.2023.1212405
Front Pediatr
2023 Jul 27;11:1212405.
5-oxoprolinuria case report glutathione synthetase deficiency glutathione synthetase gene variation inherited metabolic disease newborn
CC BY
https://pubmed.ncbi.nlm.nih.gov/37576147/
Case Reports
PMC10413980
37576147
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
2023