Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

Succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, ataxia, sleep disorders, and psychiatric disturbances. Neuroimaging reveals increas...

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Hlavní autoři: Pearl, P. L., Gibson, K. M., Cortez, M. A., Wu, Y., Snead, O. Carter, Knerr, I., Forester, K., Pettiford, J. M., Jakobs, C., Theodore, W. H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2693236/
https://ncbi.nlm.nih.gov/pubmed/19172412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-009-1034-y
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