Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy
Ruxuan He, Jinrong Liu, Xiaolei Tang, Hui Liu, Yuelin Shen, Xioayan Zhang, Huimin Li, Shunying Zhao, Haiming YangBeijing Children’s Hospital and Capital Medical University. Children’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children’s Hospital and Seventh People’s Hospital of Xinjiang Uygur Autonomous Region.China Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04720-8 AbstractBackground: Cobalamin C (cblC) deficiency, […]
