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