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Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.
Wernli C, Finochiaro S, Volken C, Andresen-Streichert H, Buettler A, Gygax D, Salomons GS, Jansen EE, Ainslie GR, Vogel KR, Gibson KM. Wernli C, et al. Among authors: ainslie gr. Mol Genet Metab Rep. 2016 Aug 17;11:81-89. doi: 10.1016/j.ymgmr.2016.07.009. eCollection 2017 Jun. Mol Genet Metab Rep. 2016. PMID: 28649510 Free PMC article.
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