Ashlee R. Stiles

机构：Duke University, Biochemical Society, Duke Medical Center, Duke University Health System

发表论文 41 篇 · 总被引 881 次 · h-index 11

代表论文

• Rescue of glutaric aciduria type I in mice by liver-directed therapies (2023 · Science Translational Medicine · 被引 27)
• The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease (2021 · Molecular Genetics and Metabolism Reports · 被引 16)
• The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (2022 · Genetics in Medicine · 被引 9)
• Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease (2022 · International Journal of Molecular Sciences · 被引 5)
• Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease (2026 · EBioMedicine · 被引 4)
• Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia (2025 · JCI Insight · 被引 4)