Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.

Glutathione synthetase (GSH-S) is one of the two known hereditary causes of glutathione deficiency. We describe a family whose two children have hemolytic anemia. The children's erythrocytes lack GSH and are severely deficient in GSH-S activity. No neurologic findings or 5-oxoprolinuria were present...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Beutler, E, Gelbart, T, Pegelow, C
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1986
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423305/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3944259/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112298
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