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

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 CPS1D cau...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291795/
https://www.ncbi.nlm.nih.gov/pubmed/37365635
http://dx.doi.org/10.1186/s12920-023-01569-w

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