Showing results (1-10 of 7) with videos related to
Sort By:
Pageof 1
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 15, 2026
Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- miceJiaming Wang, Coleman T Turgeon, Perry R Loken, et al.Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.Clinical Chemistry|September 3, 2010
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometryColeman T Turgeon, Mark J Magera, Carla D Cuthbert, et al.Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.Elife|March 25, 2020
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluriaTracy L McGregor, Karen A Hunt, Elaine Yee, et al.Elife|November 21, 2022
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortalityAnkit Sabharwal, Mark D Wishman, Roberto Lopez Cervera, et al.Neurology|November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related NeuropathyJordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.Pageof 1