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Therapeutic Advances in Rare Disease

IF
Papers9
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Journal Papers 9
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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
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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 therapy
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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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The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
deleteNesbitt, Gerry; Curley, Alexandra
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Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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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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
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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 RASopathies
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
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 treatment
deleteTherapeutic Advances in Rare Disease
IF0
delete2026-01-01
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PREAI
deleteAmbrose, Anastasia; McCabe, Morganne; Bahl, Shalini; Sinasac, David; Snyder, Thomas; Mercimek-Andrews, Saadet
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