Oleg A. Shchelochkov

机构：National Human Genome Research Institute

发表论文 88 篇 · 总被引 3226 次 · h-index 33

代表论文

• Severity modeling of propionic acidemia using clinical and laboratory biomarkers (2021 · Genetics in Medicine · 被引 23)
• 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (2021 · Genetics in Medicine · 被引 17)
• Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology (2024 · Molecular Psychiatry · 被引 12)
• Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience (2023 · Human Gene Therapy · 被引 10)
• Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (2021 · Genetics in Medicine · 被引 10)
• Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene (2022 · American Journal of Medical Genetics Part A · 被引 8)