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Molecular Genetics and Metabolism|February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approachAlvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.Analytical Biochemistry|December 1, 1983
Enzymatic preparation of radiolabeled succinic semialdehydeK M Gibson, L SweetmanHuman Molecular Genetics|August 21, 2003
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyHana Antonicka, Scot C Leary, Guy-Hellen Guercin, et al.Molecular Genetics and Metabolism|July 26, 2005
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiencyMelanie B Gillingham, Richard G Weleber, Martha Neuringer, et al.Molecular Therapy. Nucleic Acids|June 19, 2017
Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver PromoterHiu Man Grisch-Chan, Andrea Schlegel, Tanja Scherer, et al.Journal of Inherited Metabolic Disease|March 10, 2018
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 miceTanja Scherer, Gabriella Allegri, Christineh N Sarkissian, et al.Molecular Genetics and Metabolism|June 29, 2020
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-upBarbara K Burton, Nicola Longo, Jerry Vockley, et al.European Journal of Drug Metabolism and Pharmacokinetics|January 1, 1989
Metabolism of [U-14C]-4-hydroxybutyric acid to intermediates of the tricarboxylic acid cycle in extracts of rat liver and kidney mitochondriaK M Gibson, W L NyhanThe International Journal of Biochemistry|September 1, 1992
Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserumK L Chambliss, K M GibsonMolecular Genetics and Metabolism|April 10, 2018
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trialCary O Harding, R Stephen Amato, Mary Stuy, et al.Pageof 25