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Frontiers in Neurology|April 9, 2026
Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxiaRebeka Sipma, Marissa Dean, Andrea DeBarber, et al.
JIMD Reports|May 12, 2021
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findingsAdam J Guenzel, Andrea DeBarber, Kimiyo Raymond, et al.
The Journal of Pharmacology and Experimental Therapeutics|December 20, 2002
Analysis of differential substrate selectivities of CYP2B6 and CYP2E1 by site-directed mutagenesis and molecular modelingMargit Spatzenegger, Hong Liu, Qinmi Wang, et al.
Advances in Therapy|December 19, 2023
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert PerspectivesRobert D Steiner, Andrea DeBarber, Austin Larson, et al.
Molecular Genetics and Metabolism|December 9, 2015
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomesVivek Appadurai, Andrea DeBarber, Pei-Wen Chiang, et al.
JAMA Ophthalmology|September 20, 2019
Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral CataractsSharon F Freedman, Charlotte Brennand, John Chiang, et al.
Journal of Labelled Compounds & Radiopharmaceuticals|April 25, 2024
Synthesis of Deuterated Endochin-Like QuinolonesSovitj Pou, Rolf W Winter, Katherine M Liebman, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|May 20, 2017
Intravenous Fish Oil and Pediatric Intestinal Failure-Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty AcidsKara L Calkins, Andrea DeBarber, Robert D Steiner, et al.
Human Genetics|April 21, 2015
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic dataSteven J Schrodi, Andrea DeBarber, Max He, et al.
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