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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

10.1016/0006-291x(77)90356-4 Biochem

These findings suggest that the antioxidant effect of L-Carnitine treatment may be mediated through the NRF2Keap1 pathway

Currently, the GLS1 inhibitor CB-839 is under phase 1 clinical evaluation in patients with advanced solid tumors (e.g., NCT02071862, NCT03875313, and NCT02861300), showing encouraging treatment effects, and further clinical trials are needed to establish its utility as a radiosensitizer [70, 76]

[DOI] [PMC free article] [PubMed] [Google Scholar] 4.Bornstein S.R., et al

iPSC-derived homogeneous populations of developing schizophrenia cortical interneurons have compromised mitochondrial function