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5. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Zeiger WA; Sun LR; Bosemani T; Pearl PL; Stafstrom CE Pediatr Neurol; 2016 May; 58():113-5. PubMed ID: 27268762 [TBL] [Abstract][Full Text] [Related]
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7. 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]
8. Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. Lemes A; Blasi P; Gonzales G; Russi ME; Quadrelli R; Novelletto A; Malaspina P J Inherit Metab Dis; 2006 Aug; 29(4):587. PubMed ID: 16788854 [TBL] [Abstract][Full Text] [Related]
9. A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. Wang KY; Barker PB; Lin DD Childs Nerv Syst; 2016 Jul; 32(7):1305-9. PubMed ID: 26499347 [TBL] [Abstract][Full Text] [Related]
10. Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency. Esposito S; Moscatelli M; Caccia C; Granocchio E; Pantaleoni C; Ardissone A; Gellera C; Farina L Neurology; 2020 Oct; 95(16):e2316-e2317. PubMed ID: 32680940 [No Abstract] [Full Text] [Related]
11. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. Leo S; Capo C; Ciminelli BM; Iacovelli F; Menduti G; Funghini S; Donati MA; Falconi M; Rossi L; Malaspina P Metab Brain Dis; 2017 Oct; 32(5):1383-1388. PubMed ID: 28664505 [TBL] [Abstract][Full Text] [Related]
12. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Brown M; Ashcraft P; Arning E; Bottiglieri T; McClintock W; Giancola F; Lieberman D; Hauser NS; Miller R; Roullet JB; Pearl P; Gibson KM Mol Genet Genomic Med; 2019 May; 7(5):e629. PubMed ID: 30829465 [TBL] [Abstract][Full Text] [Related]
13. 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; J Child Neurol; 2021 Nov; 36(13-14):1177-1188. PubMed ID: 33557678 [TBL] [Abstract][Full Text] [Related]
14. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. Acosta MT; Munasinghe J; Pearl PL; Gupta M; Finegersh A; Gibson KM; Theodore WH J Child Neurol; 2010 Dec; 25(12):1457-61. PubMed ID: 20445195 [TBL] [Abstract][Full Text] [Related]
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19. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency. Dong H; Ma X; Chen Z; Zhang H; Song J; Jin Y; Li M; Lu M; He R; Zhang Y; Yang Y BMC Med Genomics; 2024 Jun; 17(1):158. PubMed ID: 38862963 [TBL] [Abstract][Full Text] [Related]
20. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L Mol Genet Metab; 2018 Jul; 124(3):210-215. PubMed ID: 29895405 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]