Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency

OBJECTIVE: Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of GABA metabolism characterized by elevated levels of GABA and gamma-hydroxybutyric acid. Clinical findings include intellectual impairment, hypotonia, hyporeflexia, hallucinations, autistic behavio...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Pearl, P L., Gibson, K M., Quezado, Z, Dustin, I, Taylor, J, Trzcinski, S, Schreiber, J, Forester, K, Reeves-Tyer, P, Liew, C, Shamim, S, Herscovitch, P, Carson, R, Butman, J, Jakobs, C, Theodore, W
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Academy of Neurology 2009
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2727143/
https://ncbi.nlm.nih.gov/pubmed/19667317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181b163a5
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