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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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Detalhes bibliográficos
Publicado no:J Clin Invest
Principais autores: Beutler, E, Gelbart, T, Pegelow, C
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1986
Assuntos:
Acesso em linha: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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