Barbara K. Burton

机构：Northwestern University, Lurie Children's Hospital, Lurie Children's Hospital, Robert H. Lurie Comprehensive Cancer Center of Northwestern University · ORCID：0000-0002-3691-7190

发表论文 435 篇 · 总被引 13638 次 · h-index 65

代表论文

• Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (2024 · Genetics in Medicine · 被引 62)
• An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II (2025 · New England Journal of Medicine · 被引 18)
• Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition (2025 · Nature Communications · 被引 5)
• Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study (2025 · Genetics in Medicine · 被引 5)
• Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up (2025 · Molecular Genetics and Metabolism · 被引 5)
• Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study (2026 · Orphanet Journal of Rare Diseases · 被引 2)