Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

BACKGROUND: SSADH (aldehyde dehydrogenase 5a1 (Aldh5a1); γ-hydroxybutyric (GHB) aciduria) deficiency is a defect of GABA degradation in which the neuromodulators GABA and GHB accumulate. The human phenotype is that of nonprogressive encephalopathy with prominent bilateral discoloration of the globi...

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Библиографические подробности
Главные авторы: Jansen, Erwin EW, Struys, Eduard, Jakobs, Cornelis, Hager, Elizabeth, Snead, O Carter, Gibson, K Michael
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2008
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2642797/
https://ncbi.nlm.nih.gov/pubmed/19040727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-213X-8-112
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