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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. 5...

Read the complete abstract on PubMed

Topics

Aldehyde Oxidoreductases
Base Sequence
Child
DNA Mutational Analysis
Female
Humans
Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Phenotype

Sequence Deletion

Succinate-Semialdehyde Dehydrogenase

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15059623-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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