Article

Common 'inborn errors' of metabolism in the general population

2021-01-01

Abstract excerpt

Inborn errors of metabolism (IEMs) are a group of disorders characterised by the toxic accumulation or deficiency of circulating molecules ('metabolites') caused by rare genetic mutations. Previous studies have identified select examples where common variants at genes known to cause rare Mendelian diseases, including IEMs (e.g. LPL, DBH, PPM1K), are linked to phenotypic consequences in the general population that...

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Literature Corpus work: 687da2ac-d3a9-5145-8161-120fcb16fd8b
DOI: 10.17863/cam.68475

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