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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Inherit Metab Dis |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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