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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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| Pubblicato in: | Neurochem Int |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2016
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| Soggetti: | |
| Accesso online: | 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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