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Molecular Genetics and Metabolism|March 22, 2007
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic systemEric S Goetzman, Yudong Wang, Miao He, et al.
Molecular Genetics and Metabolism|April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenaseJ Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Molecular Genetics and Metabolism|January 25, 2023
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)James P DeLany, Angela Horgan, Ashley Gregor, et al.
American Journal of Medical Genetics. Part A|April 18, 2024
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorderKaitlin Morrison, Hitoshi Koshiya, Robert Safier, et al.
Clinical Nutrition ESPEN|January 25, 2021
Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin studyJerry Vockley, Nicola Longo, Megan Madden, et al.
Journal of Inherited Metabolic Disease|February 26, 2022
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screeningOlivia M D'Annibale, Erik A Koppes, Meena Sethuraman, et al.
The Journal of Biological Chemistry|January 30, 2008
Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenaseRyan P McAndrew, Yudong Wang, Al-Walid Mohsen, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|August 7, 2018
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical OutcomesKristen Critelli, Patrick McKiernan, Jerry Vockley, et al.
Molecular Genetics and Metabolism Reports|November 17, 2022
Natural history of propionic acidemia in the Amish populationSarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, et al.
Molecular Genetics and Metabolism|July 9, 2026
Biomarkers and surrogate endpoints for drug development in propionic acidemiaAgnieszka Jurecka, Sabine Scholl-Bürgi, Barbara Burton, et al.
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