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Precision medicine approaches should enroll participants based on biological signatures rather than broad diagnostic categories, including glutathione status, lactate to pyruvate ratios, N acetyl aspartate, NRF2 related profiles, electron transport chain complex activity, and the presence of folate receptor alpha autoantibodies in cerebral folate deficiency
[DOI] [PMC free article] [PubMed] [Google Scholar] 73.Borum P.R
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N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia
