Etiqueta: IRDR

[ Advance Publication ] [ Title ] Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene [ Author ] Jinyu Liu,Yi Wu,Shixuan Xu,Yirui Qin,Guoqiang Li,Yiyao Chen,…

[ Advance Publication ] [ Title ] Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease [ Author ] Guowei Li,Jing Luan,Zihan Li,Yali Yang,Chonghao Shao,Jing Wang,Zhenzhong Han,Quanlin Wang,Yuan Zhu…

[ Title ] Beyond malignancies: Clinical advancements of CAR T-cell in the treatment of autoimmune diseases [ Author ] Xing Fang,Ruili Wei,Wenli Zhu,Yongxian Hu,Hui Liang [ Publication date ] 2026-06-05 [ DOI ] https://doi.org/10.5582/irdr.2025.01057

[ Title ] Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study [ Author ] Linguo Li,Yinru Chen,Zikai He,Qun Li,Rufang Huang [ Publication date ] 2026-06-05 [ DOI ] https://doi.org/10…

[ Title ] The "China model" for rare disease governance: Policy framework, local implementation, and pathways for optimization [ Author ] Xiumei Zhang,Jing Luan,Yan Mu,Keke Zhang,Zhiyan Han,Jinxiang Han [ Publication date ] 2026-06-05 [ DOI ] https://doi.org/10.5582/irdr.2025.01060

[ Title ] Surgical treatment and prognosis of type II congenital extrahepatic portosystemic shunts: A single-center experience of 31 cases [ Author ] Yanqin Hu,Shang Gao,Hongxiang Jiang,Yuhao Huo,Yuanzhe Liu,Rui Yang,Weizheng Liu,Yinbiao Cao,Weidong D…

[ Title ] Policy lessons regarding medical security for rare diseases in China: Insights from Zhejiang Province through the multiple streams framework [ Author ] Miao Wang,Chunyu Rong,Pingyang Wang [ Publication date ] 2026-06-05 [ DOI ] https://doi.o…

[ Title ] Prevalence and maternal-child clinical and socioeconomic factors associated with congenital anomalies in a Mexican hospital-based setting [ Author ] Víctor Michael Salinas-Torres,Rafael Ángel Salinas-Torres [ Publication date ] 2026-06-05 [ …

[ Title ] A neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics [ Author ] Nikolaos Mitsoudis,Ioannis Nikolakakis,Athanasia Apsemidou,Christos Bakirtzis,Nikolaos Grigoriadis [ Publication date ] …

[ Title ] From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem [ Author ] Rachel Yang [ Publication date ] 2026-06-05 [ DOI ] https://doi.org/10.5582/irdr.2026.01019