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28. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Dervent A; Gibson KM; Pearl PL; Salomons GS; Jakobs C; Yalcinkaya C Clin Neurophysiol; 2004 Jun; 115(6):1417-22. PubMed ID: 15134710 [TBL] [Abstract][Full Text] [Related]
29. Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses. Li X; Ding Y; Liu Y; Zhang Y; Song J; Wang Q; Li M; Qin Y; Huang S; Yang Y Gene; 2015 Dec; 574(1):41-7. PubMed ID: 26220405 [TBL] [Abstract][Full Text] [Related]
30. Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. Liu N; Kong XD; Kan QC; Shi HR; Wu QH; Zhuo ZH; Bai QL; Jiang M J Perinat Med; 2016 May; 44(4):441-51. PubMed ID: 25431891 [TBL] [Abstract][Full Text] [Related]
31. Murine succinate semialdehyde dehydrogenase deficiency. Gupta M; Hogema BM; Grompe M; Bottiglieri TG; Concas A; Biggio G; Sogliano C; Rigamonti AE; Pearl PL; Snead OC; Jakobs C; Gibson KM Ann Neurol; 2003; 54 Suppl 6():S81-90. PubMed ID: 12891658 [TBL] [Abstract][Full Text] [Related]
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33. Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Gropman A Ann Neurol; 2003; 54 Suppl 6():S66-72. PubMed ID: 12891656 [TBL] [Abstract][Full Text] [Related]
34. Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria). Dósa Z; Nieto-Gonzalez JL; Korshoej AR; Gibson KM; Jensen K Epilepsy Res; 2010 Jun; 90(1-2):39-46. PubMed ID: 20363598 [TBL] [Abstract][Full Text] [Related]
35. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Vogel KR; Pearl PL; Theodore WH; McCarter RC; Jakobs C; Gibson KM J Inherit Metab Dis; 2013 May; 36(3):401-10. PubMed ID: 22739941 [TBL] [Abstract][Full Text] [Related]
36. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Gibson KM; Hoffmann GF; Hodson AK; Bottiglieri T; Jakobs C Neuropediatrics; 1998 Feb; 29(1):14-22. PubMed ID: 9553943 [TBL] [Abstract][Full Text] [Related]
38. The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review. Colijn MA Psychiatr Genet; 2020 Dec; 30(6):153-161. PubMed ID: 33165204 [TBL] [Abstract][Full Text] [Related]
39. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Lee HHC; McGinty GE; Pearl PL; Rotenberg A Int J Mol Sci; 2022 Feb; 23(5):. PubMed ID: 35269750 [TBL] [Abstract][Full Text] [Related]
40. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Pearl PL; Shukla L; Theodore WH; Jakobs C; Michael Gibson K Brain Dev; 2011 Oct; 33(9):796-805. PubMed ID: 21664777 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]