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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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| Publicado no: | Proc Natl Acad Sci U S A |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1974
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC388488/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4152248/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.71.6.2505 |
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