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Article

Glutathione synthetase deficiency.

Cellular and molecular life sciences : CMLS - 1 Sept 2005

Njålsson R

Abstract excerpt

Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessively, and patients with this disease can be divided into three groups, according to their clinical phenotype. Mildly affected patients have mutations affecting the...

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Identifiers

PMID: 15990954
DOI: 10.1007/s00018-005-5163-7
PMCID: PMC11139123

Genes

GSS

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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