Robert J. Hopkin

机构：Cincinnati Children's Hospital Medical Center

发表论文 324 篇 · 总被引 12666 次 · h-index 57

代表论文

• Fabry disease in females: organ involvement and clinical outcomes compared with the general population (2025 · Orphanet Journal of Rare Diseases · 被引 7)
• Research Review of Myhre Syndrome (2025 · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 被引 6)
• Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension (2025 · Molecular Genetics and Metabolism · 被引 5)
• Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR) (2025 · Molecular Genetics and Metabolism · 被引 3)
• Long-term efficacy of migalastat in females with Fabry disease (2025 · Journal of Medical Genetics · 被引 2)
• Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency (2025 · Frontiers in Pediatrics · 被引 2)