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• Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.

  Brown GK, Cromby CH, Manning NJ, Pollitt RJ. Brown GK, et al. J Inherit Metab Dis. 1987;10(4):367-75. doi: 10.1007/BF01799979. J Inherit Metab Dis. 1987. PMID: 3126356
• Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

  Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Kirby T, et al. Metab Brain Dis. 2020 Apr;35(4):601-614. doi: 10.1007/s11011-020-00550-1. Epub 2020 Mar 14. Metab Brain Dis. 2020. PMID: 32172518 Free PMC article.
• Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

  Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
• A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.

  Thorburn DR, Thompson GN, Howells DW. Thorburn DR, et al. J Inherit Metab Dis. 1993;16(6):942-9. doi: 10.1007/BF00711509. J Inherit Metab Dis. 1993. PMID: 8127070
• Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.

  Walters DC, Lawrence R, Kirby T, Ahrendsen JT, Anderson MP, Roullet JB, Murphy EJ, Gibson KM; SSADH Deficiency Investigators Consortium (SDIC). Walters DC, et al. J Child Neurol. 2021 Nov;36(13-14):1177-1188. doi: 10.1177/0883073820987742. Epub 2021 Feb 9. J Child Neurol. 2021. PMID: 33557678 Free PMC article.