Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency

• Main Authors: Hui Dong (Author), Tian Sang (Author), Xue Ma (Author), Jinqing Song (Author), Zhehui Chen (Author), Huiting Zhang (Author), Ying Jin (Author), Mengqiu Li (Author), Dingding Dong (Author), Liying Sun (Author), Zhijun Zhu (Author), Yao Zhang (Author), Yanling Yang (Author)
• Format: Book
• Published: BMC, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Carbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM 237300), an autosomal recessive rare and severe urea cycle disorder, is associated with hyperammonemia and high mortality. Methods Herein we present 12 genetic variants identified in seven clinically well-characterized Chin...