Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Pathophysiological Complexity and Multifactorial Trait Associations in a Rare Monogenic Disorder of GABA Metabolism

Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second step of the GABA degradative pathway. Some 200 patients have been reported, with broad phenotypic and genotypic heterogeneity. SSADHD represen...

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Detalhes bibliográficos
Publicado no:Neurochem Int
Main Authors: Malaspina, P, Roullet, J-B, Pearl, PL, Ainslie, GR, Vogel, KR, Gibson, KM
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028283/
https://ncbi.nlm.nih.gov/pubmed/27311541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuint.2016.06.009
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