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Article

The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.

Molecular genetics and metabolism - 1 Apr 2004

Bekri S, Fossoud C, Plaza G, Guenne A, Salomons G S, Jakobs C, Van Obberghen E

Abstract excerpt

Succinic semialdehyde dehydrogenase (SSADH) deficiency has predominantly neurological consequences, affecting psychomotor, speech and language development. Recently, two clinical reviews summarized the features of this disease and their relative frequency [Neurology 60 (2003) 1413; Ann. Neurol. 54 (2003) S73]. The molecular genetics of SSADH deficiency is still being explored. We describe the molecular basis of...

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PMID: 15059623
DOI: 10.1016/j.ymgme.2004.01.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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