Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids
Keywords: CV; coefficient of variation; GABA; gamma-aminobutyric acid; GC-FID; gas chromatography-flame ionization detector; GC-MS; gas chromatography-mass spectrometry; GHB; gamma-hydroxybutyrate (also γ-hydroxybutyric acid); GHBDH; GHB-dehydrogenase; IDM; is