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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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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | 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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