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

Abstract Background Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset C...

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Bibliografische gegevens

Hoofdauteurs:	Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu, Gang Zhang
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMC 2023-06-01
Reeks:	BMC Medical Genomics
Onderwerpen:	Hyperammonemia CPS1 gene variant Emerging mutations Urea cycle disorder/carbamoyl phosphate synthase I deficiency
Online toegang:	https://doi.org/10.1186/s12920-023-01569-w
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