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

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 study approach, in which the first study (proof of...

Popoln opis

Bibliografske podrobnosti

Principais autores:	C. Wernli, S. Finochiaro, C. Volken, H. Andresen-Streichert, A. Buettler, D. Gygax, G.S. Salomons, E.E. Jansen, G.R. Ainslie, K.R. Vogel, K.M. Gibson
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2017-06-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Succinic semialdehyde dehydrogenase Succinic semialdehyde dehydrogenase deficiency γ-hydroxybutyric acid Enzymatic enzyme assay
Online dostop:	http://www.sciencedirect.com/science/article/pii/S221442691630057X
Oznake:	Označite Brez oznak, prvi označite!