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Journal of Lipid Research|December 31, 1998
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylaseJ Gao, L Waber, M J Bennett, et al.
Neuropediatrics|April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolismK M Gibson, G F Hoffmann, A K Hodson, et al.
Neurobiology of Disease|September 25, 1998
Identification of a familial mutation associated with GABA-transaminase deficiency diseaseL K Medina-Kauwe, W L Nyhan, K M Gibson, et al.
Journal of Inherited Metabolic Disease|July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)Hak Chung, Dongseok Choi, Ashley Gregor, et al.
Orphanet Journal of Rare Diseases|September 12, 2024
Meta-analysis of bone mineral density in adults with phenylketonuriaJúlio C Rocha, Álvaro Hermida, Cheryl J Jones, et al.
Journal of Inherited Metabolic Disease|September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trialMelanie B Gillingham, Stephen B Heitner, Julie Martin, et al.
Journal of Inherited Metabolic Disease|August 18, 2000
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiencyK L Chambliss, R G Gray, G Rylance, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 14, 1994
The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduriaS Jooste, E Erasmus, L J Mienie, et al.
Toxicology in Vitro : an International Journal Published in Association with BIBRA|October 17, 2017
Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorderK R Vogel, G R Ainslie, A McConnell, et al.
Toxicology in Vitro : an International Journal Published in Association with BIBRA|January 26, 2017
In vitro toxicological evaluation of NCS-382, a high-affinity antagonist of γ-hydroxybutyrate (GHB) bindingK R Vogel, G R Ainslie, J-B Roullet, et al.
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