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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...

詳細記述

保存先:
書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: Wellner, Vaira P., Sekura, Ronald, Meister, Alton, Larsson, Agne
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 1974
主題:
オンライン・アクセス: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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