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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: Knerr, Ina, Gibson, K. Michael, Murdoch, Geoffrey, Salomons, Gajja S., Jakobs, Cornelis, Combs, Susan, Pearl, Phillip L.
Format: Artigo
Jezik:Inglês
Izdano: 2010
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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