Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids

Autor: Kara R. Vogel, Cédric Wernli, S Finochiaro, Erwin E.W. Jansen, Gajja S. Salomons, Daniel Gygax, A Buettler, H Andresen-Streichert, C Volken, K. M. Gibson, Garrett R. Ainslie

Publikováno v: Molecular Genetics and Metabolism Reports, 11, 81-89. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 81-89 (2017)
Wernli, C, Finochiaro, S, Volken, C, Andresen-Streichert, H, Buettler, A, Gygax, D, Salomons, G S, Jansen, E E, Ainslie, G R, Vogel, K R & Gibson, K M 2017, ' Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids ', Molecular Genetics and Metabolism Reports, vol. 11, pp. 81-89 . https://doi.org/10.1016/j.ymgmr.2016.07.009

Hypothesis An enzymatic assay for quantification of γ-hydroxybutyric acid (GHB) in biofluids can be employed for targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) in selected populations. Rationale We used a two-tiered st

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https://research.vumc.nl/en/publications/a8a717c5-c7b0-4311-8689-d498c8971277

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.

Autor: Wernli C; University of Applied Sciences and Arts, Northwestern Switzerland School of Life Sciences, Institute for Chemistry and Bioanalytics, Switzerland., Finochiaro S; Bildungszentrum Gesundheit Basel-Stadt, Münchenstein, Switzerland.; Zentrallabor, Kantonsspital Baselland, Bruderholz, Switzerland., Volken C; Zentrallabor, Kantonsspital Baselland, Bruderholz, Switzerland., Andresen-Streichert H; University Medical Center Hamburg-Eppendorf Institute of Legal Medicine, Department of Toxicology, Hamburg, Germany., Buettler A; University of Applied Sciences and Arts Northwestern Switzerland School of Life Sciences, Institute for Chemistry and Bioanalytics Muttenz, Switzerland., Gygax D; University of Applied Sciences and Arts Northwestern Switzerland School of Life Sciences, Institute for Chemistry and Bioanalytics Muttenz, Switzerland., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, VU University Mediscal Center, Neuroscience Campus, Amsterdam, The Netherlands., Jansen EE; Metabolic Unit, Department of Clinical Chemistry, VU University Mediscal Center, Neuroscience Campus, Amsterdam, The Netherlands., Ainslie GR; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Spokane, WA, USA., Vogel KR; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Spokane, WA, USA., Gibson KM; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Spokane, WA, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2016 Aug 17; Vol. 11, pp. 81-89. Date of Electronic Publication: 2016 Aug 17 (Print Publication: 2017).