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(PubMed) Gladyshev VN
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)
Notably, a premature shift of neural stem cells away from neuronogenesis and to gliogenesis seems to play a leading role in several syndromes
GI events were most common (nausea, vomiting, decreased appetite)
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