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Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

26 Jan 2009

Abstract excerpt

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 increased T2-weighted MRI signal usually affecting the globus pallidus, cerebellar dentate nucleus, and subthalamic...

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PMID: 19172412
DOI: 10.1007/s10545-009-1034-y

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