Publications by authors named "Ru-Jia Liang"
J Cell Mol Med
April 2021
Article Synopsis
- Urea cycle disorders (UCDs) are rare genetic conditions that lead to high ammonia levels in the body and vary in their severity, caused by deficiencies in key biomolecules of the urea cycle.
- A study analyzed five UCD cases using clinical, biochemical, and genetic assessments, identifying nine genetic variants, including three new ones linked to specific disorders like Argininosuccinic aciduria and Citrin deficiency.
- The research confirmed the pathogenicity of the identified genetic variants, broadening our understanding of UCD and aiding in genetic counseling for affected families.
