Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH def...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121295/ |