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Molecular Genetics and Metabolism|February 17, 2017
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiencyJirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, et al.Pharmacogenetics|June 5, 2003
Expression of human paraoxonase (PON1) during developmentToby B Cole, Rachel L Jampsa, Betsy J Walter, et al.Molecular Genetics and Metabolism|June 1, 2015
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcomeCurtis R Coughlin, Clara D M van Karnebeek, Walla Al-Hertani, et al.JCI Insight|January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1BDavid R Adams, Supriya Menezes, Ramon Jauregui, et al.Pageof 2