Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China

• Main Authors: Gaopin Yuan (Author), Zhiyong Liu (Author), Zhixu Chen (Author), Xiaohong Zhang (Author), Weifeng Zhang (Author), Dongmei Chen (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of OTCD. Methods A retrospective analysis...