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Correlation of Blood Biomarkers with Age Informs Pathomechanisms in Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Disorder of GABA Metabolism

We hypothesized that blood levels of GABA and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from eighteen patients (age range 5–41 years; median 8). Both...

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Bibliografische gegevens
Gepubliceerd in:J Inherit Metab Dis
Hoofdauteurs: Jansen, EE, Vogel, KR, Salomons, GS, Pearl, PL, Roullet, J-B, Gibson, KM
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5115636/
https://ncbi.nlm.nih.gov/pubmed/27686230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9980-7
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