Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for Î³-hydroxybutyric acid (GHB) in biofluids.

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

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.

Afiliação

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.
Volken C; Zentrallabor, Kantonsspital Baselland, Bruderholz, Switzerland.
Andresen-Streichert H; Zentrallabor, Kantonsspital Baselland, Bruderholz, Switzerland.
Buettler A; University Medical Center Hamburg-Eppendorf Institute of Legal Medicine, Department of Toxicology, Hamburg, Germany.
Gygax D; University of Applied Sciences and Arts Northwestern Switzerland School of Life Sciences, Institute for Chemistry and Bioanalytics Muttenz, Switzerland.
Salomons GS; University of Applied Sciences and Arts Northwestern Switzerland School of Life Sciences, Institute for Chemistry and Bioanalytics Muttenz, Switzerland.
Jansen EE; Metabolic Unit, Department of Clinical Chemistry, VU University Mediscal Center, Neuroscience Campus, Amsterdam, The Netherlands.
Ainslie GR; Metabolic Unit, Department of Clinical Chemistry, VU University Mediscal Center, Neuroscience Campus, Amsterdam, The Netherlands.
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.

Mol Genet Metab Rep ; 11: 81-89, 2017 Jun.

Article em En | MEDLINE | ID: mdl-28649510

Palavras-chave

CV, coefficient of variation; Enzymatic enzyme assay; GABA, gamma-aminobutyric acid; GC-FID, gas chromatography-flame ionization detector; GCMS, gas chromatographymass spectrometry; GHB, gamma-hydroxybutyrate (also Î³-hydroxybutyric acid); GHBDH, GHB-dehydrogenase; IDM, isotope dilution method; LLOQ, lower limit of quantification; LOD, limit of detection; NADH, nicotinamide adenine dinucleotide, reduced form; SSADHD, succinic semialdehyde dehydrogenase deficiency; Succinic semialdehyde dehydrogenase; Succinic semialdehyde dehydrogenase deficiency; r, correlation coefficient (Pearson); Î³-hydroxybutyric acid

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google