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...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5470939/
https://ncbi.nlm.nih.gov/pubmed/28649510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.07.009
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