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doi:10.1016/j.atherosclerosis.2015.05.005 234
The diagnosis of 5-oxoprolinase deficiency is established by: Low activity of 5-oxoprolinase in nucleated cells such as leukocytes or cultured skin fibroblasts (5-oxoprolinase is not present in erythrocytes)
According to previous studies, basal EGT levels are the highest in liver and erythrocytes (Weigand-Heller et al., 2012
This leads to persistent fatigue, weakness, and reduced exercise tolerance that significantly impacts quality of life
[DOI] [PMC free article] [PubMed] [Google Scholar] 64.Enooku K., Nakagawa H., Fujiwara N., Kondo M., Minami T., Hoshida Y., Shibahara J., Tateishi R., Koike K
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