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Therapeutic Advances in Rare Disease

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论文数9
被引数
期刊论文 9
发表时间
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Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy基于加拿大神经肌肉疾病登记处的真实世界数据，能否实现基于结果的协议？——来自专家主导的脊髓性肌萎缩症评估的视角
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deleteMitha, Arif; Hodgkinson, Victoria; Vander Wyk, Susi; Cameron, Chris; Wills, Allison
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Reliability assessment using the test-retest method and minimal important changes in the Adult Fabry Disease Quality of Life Scale采用重测法和最小重要变化值对成人法布里病生活质量量表进行可靠性评估
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deleteKoto, Yuta; Tanaka, Masami; Ishiura, Mitsuyo; Kim, Hyesook; Ohashi, Atsushi; Hadano, Nozomi; Narita, Aya; Sakai, Norio
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Current therapeutic landscape of β-thalassemia: focus on gene therapyβ-地中海贫血的当前治疗现状：聚焦基因治疗
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deleteCheng, Aaron N.; Kwiatkowski, Janet L.
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Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials晚期庞贝病患者居家使用阿法葡糖苷酶加米格鲁司他治疗的安全性：多中心临床试验结果
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deleteAndersen, Henning; Diaz-Manera, Jordi; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Sitaraman Das, Sheela; Fox, Brian; Amon, Farah; O'Brien-Prince, Kinesha; Goldman, Mitchell; Holdbrook, Fred; Jain, Vipul; Byrne, Barry J.
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Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe diseasemiglustat：一种用于治疗迟发性庞贝病的首创酶稳定剂，用于cipaglucosidase alfa
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deleteHopkin, Robert J.; Byrne, Barry J.; Dimachkie, Mazen M.; Kishnani, Priya S.; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; Van Der Beek, Nadine A. M. E.; Van Der Ploeg, Ans T.; Wenninger, Stephan; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jain, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo
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The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitisPBC爱尔兰患者登记系统：原发性胆汁性胆管炎国家平台的研究方案
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deleteNesbitt, Gerry; Curley, Alexandra
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Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force罕见病诊断、治疗、研究和教育中远程医疗的应用挑战与机遇：IRDiRC远程医疗任务组的意见领袖访谈
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deleteParisi, Melissa A.; Hartman, Adam L.; Letinturier, Mary Catherine V.; Tataru, Elena-Alexandra; Antoniadou, Victoria; Baynam, Gareth; Bloom, Lara; Crimi, Marco; Della Rocca, Maria G.; Didato, Giuseppe; Douzgou Houge, Sofia; Jonker, Anneliene H.; Kawome, Martina; Mueller, Friederike; O'Brien, James; Dua Puri, Ratna; Ryan, Nuala; Thong, Meow-Keong; Tumiene, Birute; Chen, Faye H.
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Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathiesRASopathies患者及其照护者对神经发育和心理健康护理的视角
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deleteElizondo, Evelyn M.; Floyd, Anne M.; Foy, Allison M. H.; Rogers, Dante J.; Cakir-Dilek, Betul; Manternach, Megan; Simacek, Jessica; Hudock, Rebekah L.; Pierpont, Elizabeth I.
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A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatmentALDH7A1基因双等位基因致病变异所致吡哆醇依赖性癫痫的新型疗法：三庚酸甘油酯治疗中的继发性线粒体能量缺乏及神经发育结局改善
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deleteAmbrose, Anastasia; McCabe, Morganne; Bahl, Shalini; Sinasac, David; Snyder, Thomas; Mercimek-Andrews, Saadet
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