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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...

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Detalles Bibliográficos
Autores principales:	Niemi, Anna-Kaisa, Brown, Candida, Moore, Tereza, Enns, Gregory M., Cowan, Tina M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121295/ https://www.ncbi.nlm.nih.gov/pubmed/27896081 http://dx.doi.org/10.1016/j.ymgmr.2014.02.005

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