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Plasma metabolome and cognitive skills in Down syndrome

26 Jun 2020

Abstract excerpt

Abstract Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a specific plasma and urinary metabolomic profile. In this work we confirmed the alteration of mitochondrial metabolism in DS and also investigated if metabolite levels are related to cognitive aspects...

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PMID: 32591596
DOI: 10.1038/s41598-020-67195-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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