Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

Wang, Shangyu; Chen, Jinglin; Zhu, Xiaoqi; Huang, Tingting; Xu, Haifeng; Ying, Guohuan; Qian, Hao; Lin, Wenxin; Tung, Yiehen; Khan, Kaleem Ullah; Guo, Hu; Zheng, Guo; Lu, Haiying; Zhang, Gang

doi:10.1186/s12920-023-01569-w

BMC Medical Genomics

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Last updated: Fri, 10 May 2024 11:52:43 Z

Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

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ISSN: 1755-8794

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