Austin Larson

机构：Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, University of Colorado Denver · ORCID：0000-0002-2079-6929

发表论文 108 篇 · 总被引 2720 次 · h-index 27

代表论文

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort (2024 · Molecular Genetics and Metabolism · 被引 20)
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation (2024 · Molecular Genetics and Metabolism · 被引 13)
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis (2024 · Mitochondrion · 被引 12)
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study (2025 · Genetics in Medicine · 被引 11)
A complement C4–derived glycopeptide is a biomarker for PMM2-CDG (2024 · JCI Insight · 被引 10)
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders (2025 · Neurology · 被引 6)