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Article

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2016

Gündüz Mehmet, Ünal Özlem, Kavurt Sumru, Türk Emrecan, Mungan Neslihan Önenli

Abstract excerpt

BACKGROUND: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26669244
DOI: 10.1515/jpem-2015-0308

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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