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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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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Jansen, EE, Vogel, KR, Salomons, GS, Pearl, PL, Roullet, J-B, Gibson, KM
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha: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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