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Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency
Reported here is the novel finding of neuropathology in a patient with succinic semialdehyde dehydrogenase deficiency, an inherited disorder of γ-aminobutyric acid metabolism characterized by intellectual deficiency, hypotonia, and epilepsy, with 4-hydroxybutyric aciduria and abnormalities of the gl...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2010
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3155415/ https://ncbi.nlm.nih.gov/pubmed/20304328 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2009.11.011 |
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