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42. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? Struys EA; Verhoeven NM; Salomons GS; Berthelot J; Vianay-Saban C; Chabrier S; Thomas JA; Tsai AC; Gibson KM; Jakobs C Mol Genet Metab; 2006 May; 88(1):53-7. PubMed ID: 16442322 [TBL] [Abstract][Full Text] [Related]
43. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Chambliss KL; Hinson DD; Trettel F; Malaspina P; Novelletto A; Jakobs C; Gibson KM Am J Hum Genet; 1998 Aug; 63(2):399-408. PubMed ID: 9683595 [TBL] [Abstract][Full Text] [Related]
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50. Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies. Vogel KR; Ainslie GR; Walters DC; McConnell A; Dhamne SC; Rotenberg A; Roullet JB; Gibson KM J Inherit Metab Dis; 2018 Jul; 41(4):699-708. PubMed ID: 29460030 [TBL] [Abstract][Full Text] [Related]
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52. A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. Yamakawa Y; Nakazawa T; Ishida A; Saito N; Komatsu M; Matsubara T; Obinata K; Hirose S; Okumura A; Shimizu T Brain Dev; 2012 Feb; 34(2):107-12. PubMed ID: 21612881 [TBL] [Abstract][Full Text] [Related]
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