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Article

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.

Nature genetics - 1 Oct 2001

Hogema B M, Gupta M, Senephansiri H, Burlingame T G, Taylor M, Jakobs C, Schutgens R B, Froestl W, Snead O C, Diaz-Arrastia R, Bottiglieri T, Grompe M, Gibson K M

Abstract excerpt

Succinate semialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GABA) degradation that manifests in humans as 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria. It is characterized by a non-specific neurological disorder including psychomotor retar...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11544478
DOI: 10.1038/ng727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11544478-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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