https://rddc.tsinghua-gd.org/zh/news 2026-06-15T05:01:38Z 0.8 daily https://rddc.tsinghua-gd.org/zh/news/genetic 2026-06-15T05:01:38Z 0.8 daily https://rddc.tsinghua-gd.org/zh/news/frontier 2026-06-15T05:01:38Z 0.8 daily https://rddc.tsinghua-gd.org/zh/news/insight 2026-06-15T05:01:38Z 0.8 daily https://rddc.tsinghua-gd.org/zh/news/case 2026-06-15T05:01:38Z 0.8 daily https://rddc.tsinghua-gd.org/zh/news/case/rddc-analyzes-marveld2-splicing-variant-hearing-loss 2025-11-05 10:34:22 0.8 daily RDDC工具深度解析MARVELD2剪接变异与遗传性耳聋 2025-10-20 https://rddc.tsinghua-gd.org/zh/news/case/rddc-tcf4-3utr-variant-pths-splicing 2025-11-05 10:34:22 0.8 daily RDDC工具助力解析TCF4 3'UTR变异与PTHS 2025-10-23 https://rddc.tsinghua-gd.org/zh/news/genetic/hif1a-hypoxia-signaling-therapeutics 2025-11-05 10:34:22 0.8 daily HIF-1α缺氧诱导因子：从诺奖机制到药研与临床 2025-10-08 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-comparative-study-of-intravenous-efgartigimod-and-ivig-in-gbs-treatment 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 静脉注射efgartigimod与IVIg治疗GBS的比较研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-european-expert-consensus-highlights-psychosocial-vulnerability-in-rare-disease-patients 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 欧洲专家共识研究呼吁关注罕见病患者心理社会脆弱性 2023-10-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-development-of-a-managed-entry-agreement-matrix-to-address-reimbursement-challenges-for-orphan-medicinal-products 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 针对孤儿药报销挑战的管理进入协议矩阵开发 2025-10-30 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-eu-should-adopt-us-orphan-drug-incentives-to-enhance-competitiveness 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 欧盟应借鉴美国孤儿药激励机制以提升竞争力 2025-03-20 https://rddc.tsinghua-gd.org/zh/news/genetic/sirt3-psoriasis-xbp1s-tlr7-8-axis 2025-11-05 10:34:22 0.8 daily SIRT3去乙酰化与银屑病：从线粒体到细胞核的精准炎症调控 2025-10-15 https://rddc.tsinghua-gd.org/zh/news/case/rddc-abca4-stargardt-disease-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力ABCA4基因变异致病性评估，推进Stargardt病精准诊断 2025-09-01 https://rddc.tsinghua-gd.org/zh/news/case/rddc-cacna1a-hemiplegic-migraine-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力CACNA1A基因变异致病性评估，推进偏瘫性偏头痛精准诊断 2025-09-02 https://rddc.tsinghua-gd.org/zh/news/case/rddc-col4a5-alport-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力COL4A5基因变异致病性评估，推进Alport综合征精准诊断 2025-09-03 https://rddc.tsinghua-gd.org/zh/news/case/rddc-dmd-duchenne-muscular-dystrophy-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力DMD基因变异致病性评估，推进杜氏肌营养不良症精准诊断 2025-09-04 https://rddc.tsinghua-gd.org/zh/news/case/rddc-fbn1-marfan-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力FBN1基因变异致病性评估，推进马凡综合征精准诊断 2025-09-05 https://rddc.tsinghua-gd.org/zh/news/case/rddc-gjb2-hereditary-deafness-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力GJB2基因变异致病性评估，推进遗传性耳聋精准诊断 2025-09-06 https://rddc.tsinghua-gd.org/zh/news/case/rddc-hexa-tay-sachs-disease-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力HEXA基因变异致病性评估，推进Tay-Sachs病精准诊断 2025-09-07 https://rddc.tsinghua-gd.org/zh/news/case/rddc-ldlr-familial-hypercholesterolemia-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力LDLR基因变异致病性评估，推进家族性高胆固醇血症精准诊断 2025-09-08 https://rddc.tsinghua-gd.org/zh/news/case/rddc-col4a3-splicing-variant-alport-syndrome 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC-RNA Splicer预测获Minigene实验完美验证 2025-09-09 https://rddc.tsinghua-gd.org/zh/news/case/rddc-brca1-hereditary-breast-cancer-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力BRCA1基因变异致病性评估，推进遗传性乳腺癌精准诊断 2025-09-10 https://rddc.tsinghua-gd.org/zh/news/case/rddc-cftr-cystic-fibrosis-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力CFTR基因变异致病性评估，推进囊性纤维化精准诊断 2025-09-11 https://rddc.tsinghua-gd.org/zh/news/case/rddc-htt-huntington-disease-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力HTT基因变异致病性评估，推进亨廷顿病精准诊断 2025-09-12 https://rddc.tsinghua-gd.org/zh/news/case/rddc-nf1-neurofibromatosis-type1-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力NF1基因变异致病性评估，推进神经纤维瘤病1型精准诊断 2025-09-13 https://rddc.tsinghua-gd.org/zh/news/case/rddc-pkd1-polycystic-kidney-disease-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力PKD1基因变异致病性评估，推进多囊肾病精准诊断 2025-09-14 https://rddc.tsinghua-gd.org/zh/news/case/rddc-scn1a-dravet-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力SCN1A基因变异致病性评估，推进Dravet综合征精准诊断 2025-09-15 https://rddc.tsinghua-gd.org/zh/news/case/rddc-tsc1-tuberous-sclerosis-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力TSC1基因变异致病性评估，推进结节性硬化症精准诊断 2025-09-16 https://rddc.tsinghua-gd.org/zh/news/case/rddc-vhl-von-hippel-lindau-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力VHL基因变异致病性评估，推进von Hippel-Lindau病精准诊断 2025-09-17 https://rddc.tsinghua-gd.org/zh/news/case/rddc-wt1-wilms-tumor-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力WT1基因变异致病性评估，推进Wilms肿瘤精准诊断 2025-09-18 https://rddc.tsinghua-gd.org/zh/news/case/rddc-zfhx3-atrial-fibrillation-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力ZFHX3基因变异致病性评估，推进房颤精准诊断 2025-09-19 https://rddc.tsinghua-gd.org/zh/news/case/rddc-actn4-fsgs-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力ACTN4基因变异致病性评估，推进局灶性节段性肾小球硬化症精准诊断 2025-09-20 https://rddc.tsinghua-gd.org/zh/news/case/rddc-best1-best-disease-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力BEST1基因变异致病性评估，推进Best病精准诊断 2025-09-21 https://rddc.tsinghua-gd.org/zh/news/case/rddc-cdkl5-cdd-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC助力CDKL5基因变异致病性评估，推进CDKL5缺陷障碍精准诊断 2025-09-22 https://rddc.tsinghua-gd.org/zh/news/case/rddc-abcc8-splicing-variant-chi 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 ABCC8 剪接变异致病性 2025-09-23 https://rddc.tsinghua-gd.org/zh/news/case/rddc-fancg-splicing-variant-fa 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 FANCG 剪接变异致病性 2025-09-24 https://rddc.tsinghua-gd.org/zh/news/case/rddc-kcnq1-splicing-variant-lqts 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 KCNQ1 剪接变异致病性 2025-09-25 https://rddc.tsinghua-gd.org/zh/news/case/rddc-atp8b1-intrahepatic-cholestasis-diagnosis 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC 致病性预测模型助力不明原因肝内胆汁淤积症诊断 2025-09-26 https://rddc.tsinghua-gd.org/zh/news/case/rddc-satb2-splicing-variant-glass-syndrome 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA剪接预测模型助力GLASS综合征诊断 2025-09-27 https://rddc.tsinghua-gd.org/zh/news/case/rddc-trip11-splicing-variant-acgia 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA剪接预测模型助力软骨生成不全IA型诊断 2025-09-28 https://rddc.tsinghua-gd.org/zh/news/case/rddc-lrrk2-splicing-variant-eopd-complex 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 助力解析早发型帕金森病复杂遗传背景 2025-09-29 https://rddc.tsinghua-gd.org/zh/news/case/rddc-srp72-splicing-variant-bmfs1-pathogenicity 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer助力评估SRP72新型剪接变异致病性 2025-09-30 https://rddc.tsinghua-gd.org/zh/news/case/rddc-fga-splicing-variant-cfds 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 FGA 剪接变异致病性 2025-10-01 https://rddc.tsinghua-gd.org/zh/news/case/rddc-gata4-splicing-variant-chd 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 GATA4 剪接变异致病性 2025-10-02 https://rddc.tsinghua-gd.org/zh/news/case/rddc-rps19-splicing-variant-dba 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 RPS19 剪接变异致病性 2025-10-03 https://rddc.tsinghua-gd.org/zh/news/case/rddc-gpi-splicing-variant-deficiency 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 GPI 剪接变异致病性 2025-10-04 https://rddc.tsinghua-gd.org/zh/news/case/rddc-pkd1-splicing-variant-adpkd 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 PKD1 剪接变异致病性 2025-10-05 https://rddc.tsinghua-gd.org/zh/news/case/rddc-gtpbp3-splicing-variant-mitochondrial 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 GTPBP3 剪接变异致病性 2025-10-06 https://rddc.tsinghua-gd.org/zh/news/case/rddc-tsc2-intronic-variant-tsc 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 TSC2 内含子变异致病性 2025-10-07 https://rddc.tsinghua-gd.org/zh/news/case/rddc-tyr-splicing-variant-albinism 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 助力白化病诊断 2025-10-08 https://rddc.tsinghua-gd.org/zh/news/case/rddc-sptb-splicing-variant-hs 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 SPTB 剪接变异致病性 2025-10-09 https://rddc.tsinghua-gd.org/zh/news/case/rddc-cftr-synonymous-vus-pgt-m 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 解码同义VUS助力PGT-M 2025-10-10 https://rddc.tsinghua-gd.org/zh/news/case/rddc-gene-database-schd-prioritization 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC基因数据库助力sCHD候选基因优先级排序 2025-10-11 https://rddc.tsinghua-gd.org/zh/news/case/rddc-col4a2-splicing-variant-fetal-hemorrhage 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 预测 COL4A2 剪接变异致胎儿脑出血 2025-10-12 https://rddc.tsinghua-gd.org/zh/news/case/rddc-female-infertility-splicing-variants 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测女性不孕症相关剪接变异 2025-10-13 https://rddc.tsinghua-gd.org/zh/news/case/rddc-homocystinemia-splicing-variants 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测高同型半胱氨酸血症剪接变异 2025-10-14 https://rddc.tsinghua-gd.org/zh/news/case/rddc-prenatal-arthrogryposis-splicing-variants 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测产前关节挛缩症剪接变异 2025-10-15 https://rddc.tsinghua-gd.org/zh/news/case/rddc-smn1-splicing-variants-sma 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 SMN1 剪接变异致SMA 2025-10-16 https://rddc.tsinghua-gd.org/zh/news/case/rddc-lhcgr-splicing-variants-46xy-dsd 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 LHCGR 剪接变异致46,XY DSD 2025-10-17 https://rddc.tsinghua-gd.org/zh/news/case/rddc-col4a5-intronic-variants-x-linked-alport 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 COL4A5 内含子变异致X连锁Alport综合征 2025-10-18 https://rddc.tsinghua-gd.org/zh/news/case/rddc-cplane1-missense-variants-joubert-syndrome 2025-11-05 10:34:22 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 CPLANE1 错义变异致Joubert综合征 2025-10-19 https://rddc.tsinghua-gd.org/zh/news/case/rddc-dct-splicing-variants-oca8 2026-06-15T05:01:38Z 0.8 daily 案例研究：RDDC RNA Splicer 精准预测 DCT 剪接变异致眼皮肤白化病8型 2025-10-20 https://rddc.tsinghua-gd.org/zh/news/insight/pku-sephience-gs1168-breakthrough 2026-06-15T05:01:38Z 0.8 daily PKU治疗新突破：从辅因子替代(Sephience)到基因沉默(GS1168)的机制解析 2025-09-30 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-treatment-and-recurrence-analysis-of-peripheral-jaw-cysts 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 周边颌骨囊肿治疗及复发分析 2025-11-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-analysis-of-medical-expenses-and-care-pathways-for-pompe-patients-receiving-enzyme-replacement-therapy 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 酶替代疗法Myozyme®在庞皮氏病患者中的医疗支出与照护路径分析 2025-01-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-advances-of-ipsc-derived-retinal-organoids-in-inherited-retinal-disease-research 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | iPSC来源的视网膜类器官在遗传性视网膜疾病研究中的进展 2025-11-02 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-artificial-intelligence-applications-in-nf1-associated-gliomas 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 基于人工智能在NF1相关胶质瘤中的应用研究 2025-11-03 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-long-ruilin-et-al-safety-and-efficacy-of-laronidase-in-chinese-mps-i-patients-a-phase-iv-single-arm-open-label-multicenter-study 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | 龙瑞麟等. 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AI赋能，解锁遗传病研究新大门：从行业痛点到RDDC解决方案 2025-11-26 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-developmental-mechanism-study-of-criss-cross-heart 2025-11-27 08:54:19 0.8 daily Orphanet Journal of Rare Diseases | Criss-cross heart的发育机制研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-impact-of-lysosomal-storage-diseases-on-quality-of-life-and-economic-burden 2025-11-27 08:58:00 0.8 daily Orphanet Journal of Rare Diseases | 赖氨酸贮积病对患者生活质量与经济负担的影响 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-systematic-review-of-the-disease-burden-in-tsc-related-epilepsy 2025-11-28 08:48:26 0.8 daily Orphanet Journal of Rare Diseases | TSC相关癫痫的疾病负担系统综述 2025-04-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-safety-and-pharmacodynamics-of-the-ferroportin-inhibitor-vamifeport-in-non-transfusion-dependent-β-thalassemia 2025-11-28 08:54:35 0.8 daily Orphanet Journal of Rare Diseases | 铁调素抑制剂vamifeport在非输血依赖性β-地中海贫血中的安全性及药效评估 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-citizen-science-in-selee-app-development-for-rare-disease-self-management 2025-11-29 09:27:48 0.8 daily Orphanet Journal of Rare Diseases | SelEe app开发中的公民科学方法与罕见病自我-management 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-retrospective-analysis-of-the-diagnostic-journey-of-fabry-disease-patients 2025-11-29 09:35:48 0.8 daily Orphanet Journal of Rare Diseases | 法布里病患者诊断路径的回顾性分析 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-clinical-phenotype-study-of-aortic-events-in-tgfbr2-mutation-families 2025-11-30 09:05:23 0.8 daily Orphanet Journal of Rare Diseases | TGFBR2基因突变家族中主动脉事件的临床表型研究 2025-04-05 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08:36:17 0.8 daily Intractable & Rare Diseases Research | 中国西部地区罕见病住院病例特征分析 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/intractable-rare-diseases-research-factors-affecting-diagnostic-delays-in-peruvian-patients-with-rare-diseases 2025-12-12 08:41:49 0.8 daily 影响秘鲁罕见病患者诊断延迟的因素 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/intractable-rare-diseases-research-ai-driven-enhancements-in-rare-disease-diagnosis-and-support-system-optimization 2025-12-13 09:05:15 0.8 daily Intractable & Rare Diseases Research | AI驱动的罕见病诊断增强与支持系统优化 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/intractable-rare-diseases-research-clinical-and-genetic-characterization-reveals-a-novel-clinical-classification-for-late-onset-cobalamin-c-deficiency 2025-12-13 09:06:51 0.8 daily Intractable & Rare Diseases Research | 临床和遗传特征分析揭示晚发性钴胺素C缺乏症的新型临床分类 2025-04-05 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Orphanet Journal of Rare Diseases | Vamifeport在非输血依赖性β-地中海贫血中的安全性和药效评估 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-study-on-the-daily-impact-and-economic-burden-of-lysosomal-storage-diseases 2025-12-29 09:26:17 0.8 daily Orphanet Journal of Rare Diseases | 赖氨酸贮积症疾病的日常影响与经济负担研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-genetic-mutation-profile-and-phenotypic-analysis-of-hyperphenylalaninemia-in-yunnan-province 2025-12-29 09:31:56 0.8 daily Orphanet Journal of Rare Diseases | 云南地区高苯丙氨酸血症的基因突变特征与表型分析 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-multicenter-study-of-chronic-inflammatory-arthritis-in-22q11-2-deletion-syndrome 2025-12-30 08:49:57 0.8 daily Orphanet Journal of Rare Diseases | 22q11.2缺失综合征中慢性炎症性关节炎的多中心研究 2025-04-05 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09:27:14 0.8 daily Orphanet Journal of Rare Diseases | 基于疾病准备水平框架评估罕见病研究进展 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-a-framework-for-palliative-care-assessment-trigger-points-in-inherited-metabolic-diseases 2026-01-01 09:31:46 0.8 daily Orphanet Journal of Rare Diseases | 遗传性代谢疾病中的姑息治疗评估触发点框架 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-a-decade-of-global-registry-insights-into-hypophosphatasia 2026-01-02 09:25:35 0.8 daily Orphanet Journal of Rare Diseases | Hypophosphatasia的全球登记研究：十年经验总结 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-underrepresented-countries-in-rare-disease-research-morocco-as-a-case-study 2026-01-02 09:26:58 0.8 daily Orphanet Journal of Rare Diseases | 罕见病研究中被忽视的国家：以摩洛哥为典型案例 2025-04-05 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daily Orphanet Journal of Rare Diseases | Hb Constant Spring突变的分子机制与临床特征综述 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-long-term-safety-and-patient-preferences-for-home-based-enzyme-replacement-therapy-in-pompe-and-mps-i-patients 2026-01-05 08:43:16 0.8 daily Orphanet Journal of Rare Diseases | Pompe病与MPS-I患者居家酶替代疗法的长期安全性及患者偏好研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-neurocognitive-features-and-academic-impact-in-children-with-ga-1 2026-01-06 08:36:13 0.8 daily Orphanet Journal of Rare Diseases | GA-1患儿的神经认知特征与学业影响研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-global-carrier-frequency-and-prevalence-of-hsd11b2-variants 2026-01-06 08:40:03 0.8 daily Orphanet Journal of Rare Diseases | HSD11B2基因变异在全球人群中的携带频率与患病率研究 2025-04-05 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daily Orphanet Journal of Rare Diseases | 脊髓性肌萎缩症疾病修正治疗后吞咽和喂养评估的系统综述 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-adult-adrenoleukodystrophy-patients-and-caregivers-perspectives-on-disease-burden-and-treatment-needs 2026-01-11 09:29:10 0.8 daily Orphanet Journal of Rare Diseases | 成人肾上腺脑白质营养不良患者及护理者视角的疾病负担与治疗需求 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-cardiovascular-phenotypes-of-children-and-adolescents-with-turner-syndrome 2026-01-12 16:20:47 0.8 daily Orphanet Journal of Rare Diseases | 女童和青少年特纳综合征患者心血管疾病表型研究 2025-04-05 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-public-preferences-for-public-funding-decisions-of-rare-disease-drugs-in-australia 2026-01-12 16:24:43 0.8 daily Orphanet Journal of Rare Diseases | 澳大利亚公众对罕见病药物公共资助决策的偏好研究 2025-04-05 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Journal of Rare Diseases | CDH23基因新发变异致超大泌乳素瘤 2026-02-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-international-consensus-management-guidelines-for-achondroplasia-a-lifespan-framework-for-multidisciplinary-integrated-care 2026-02-01 09:01:08 0.8 daily Orphanet Journal of Rare Diseases | 软骨发育不全症的国际共识管理指南：全生命周期多学科综合护理框架 2026-02-01 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-cross-disease-analysis-of-pain-characteristics-in-rare-bone-diseases-reveals-the-dominant-role-of-non-skeletal-factors 2026-02-02 08:58:24 0.8 daily Orphanet Journal of Rare Diseases | 罕见骨病中疼痛特征的跨疾病分析揭示非骨骼因素的主导作用 2026-02-02 https://rddc.tsinghua-gd.org/zh/news/frontier/orphanet-journal-of-rare-diseases-isobutyryl-coa-dehydrogenase-deficiency-disease-or-non-disease 2026-02-02 09:01:35 0.8 daily Orphanet Journal of Rare Diseases | 异丁酰辅酶A脱氢酶缺乏症：疾病还是非疾病？ 2026-02-02 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