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Glutathione Synthetase Deficiency, an Inborn Error of Metabolism Involving the γ-Glutamyl Cycle in Patients with 5-Oxoprolinuria (Pyroglutamic Aciduria)
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that the metabolic lesion in this disease is at the glutathione synthetase (EC 6.3.2.3) step of the γ-glutamyl cycle. Excessive urinary excr...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
1974
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC388488/ https://ncbi.nlm.nih.gov/pubmed/4152248 |
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