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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Detalles Bibliográficos
Autores principales: Jansen, Erwin EW, Struys, Eduard, Jakobs, Cornelis, Hager, Elizabeth, Snead, O Carter, Gibson, K Michael
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642797/
https://www.ncbi.nlm.nih.gov/pubmed/19040727
http://dx.doi.org/10.1186/1471-213X-8-112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642797/
https://www.ncbi.nlm.nih.gov/pubmed/19040727
http://dx.doi.org/10.1186/1471-213X-8-112

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