Sarah P. Young

Duke University — United States

Medicine · Health Sciences

41h-index5.4kcitations159works0.82yr avg
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Research Topics

Lysosomal Storage Disorders Research(73), Glycogen Storage Diseases and Myoclonus(46), Metabolism and Genetic Disorders(30), Carbohydrate Chemistry and Synthesis(25), Biochemical and Molecular Research(17)

Publications159 total

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review
Molecular Genetics and Metabolism·2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
JIMD Reports·2026Open Access
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
Genetics in Medicine Open·2025Open Access
Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa−/− Pompe disease mice
Molecular Genetics and Metabolism·2025
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
Molecular Genetics and Metabolism Reports·2025Open Access
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2
Science Advances·2025Open Access
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience
Genetics in Medicine·2025· 1 citedOpen Access
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
Molecular Genetics and Metabolism·2025
Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia
JCI Insight·2025· 1 citedOpen Access
Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency
Orphanet Journal of Rare Diseases·2025· 1 citedOpen Access
Positional isomers of Indolyl-benzodiazepines display dissimilar binding and recruitment of BET transcriptional regulators to targeted genomic loci
Bioorganic Chemistry·2025Open Access
Direct-to-Biology Enabled Molecular Glue Discovery
2025Open Access
Abstract 2025 The Glue Gimmick - Crystallization of CRBN + Neosubstrate + Molecular Glue Ternary Complexes to Improve Molecular Glue Specificity
Journal of Biological Chemistry·2025Open Access
Quantification of Glycosaminoglycans in Urine by Isotope Dilution Liquid Chromatography‐Electrospray Ionization Tandem Mass Spectrometry
Current Protocols·2025
North Carolina experience with newborn screening for mucopolysaccharidosis type II (Hunter syndrome)
Molecular Genetics and Metabolism·2025
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis
Molecular Genetics and Metabolism Reports·2025· 1 citedOpen Access
Sex differences in mitochondrial free-carnitine levels in subjects at-risk and with Alzheimer’s disease in two independent study cohorts
Molecular Psychiatry·2025· 4 cited
Impact of Indwelling Pleural Catheter specific educational tools on unplanned hospital encounters and caregiver training
2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency
2024· 2 citedOpen Access
The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia
Basic Research in Cardiology·2024· 8 citedOpen Access
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Frequent Co-authors

David S. Millington(24), Haoyue Zhang(18), Priya S. Kishnani(16), Dwight D. Koeberl(15), Deeksha Bali(13), Baodong Sun(6), Andrew Bird(6), Yan An(6), Laura E. Case(4), Christiane Auray‐Blais(4), Yuan‐Tsong Chen(4), Jennifer Goldstein(4), Dora Il’yasova(4), Beth L. Roman(3), T. T. Brown(3), Andrea Amalfitano(3), James Beasley(3), René Gagnon(3), Joe T.R. Clarke(3), Songtao Li(3)