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...
Gorde:
| Argitaratua izan da: | J Clin Invest |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
American Society for Clinical Investigation
1986
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| Gaiak: | |
| Sarrera elektronikoa: | 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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