Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability
Keywords: SSADHD (succinic semialdehyde dehydrogenase deficiency); ALDH5A1 gene; SSADH; GHB (γ-hydroxybutyric acid); GABA (γ-aminobutyric acid);