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Journal of Neurochemistry|April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiencySven W Sauer, Jürgen G Okun, Gert Fricker, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblastsK M Gibson, L Sweetman, W L Nyhan, et al.Molecular Genetics and Metabolism Reports|May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial programCary O Harding, Nicola Longo, Hope Northrup, et al.Ebiomedicine|October 28, 2018
Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trialsSoumi Gupta, Kelly Lau, Cary O Harding, et al.Clinical Chemistry|October 1, 1994
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MSM J Bennett, S Powell, D J Swartling, et al.The Journal of Pediatrics|January 18, 2013
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrateWendy Smith, George A Diaz, Uta Lichter-Konecki, et al.IUBMB Life|October 6, 2005
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotypeK M Gibson, C Jakobs, P L Pearl, et al.Journal of Inherited Metabolic Disease|January 1, 1987
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restrictionM Dasouki, D Buchanan, N Mercer, et al.Pharmacology, Biochemistry, and Behavior|December 8, 2004
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsyM A Cortez, Y Wu, K M Gibson, et al.Journal of Inherited Metabolic Disease|September 22, 2007
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient miceA Latini, K Scussiato, G Leipnitz, et al.Pageof 25