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Succinic Semialdehyde Dehydrogenase Deficiency: An Update

2020-01-26

Abstract excerpt

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by the impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degree of mental retardation, autism, ataxia and epileptic seizures, but the clinical picture is...

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Literature Corpus work
7426b311-2d0b-58d3-8967-19159d16fa6d
DOI
10.20944/preprints202001.0315.v1
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Succinic Semialdehyde Dehydrogenase Deficiency: An UpdateDOI 10.20944/preprints202001.0315.v1
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