Article

DDIEM: Drug Database for Inborn Errors of Metabolism

2020-01-09

Abstract excerpt

<h4>Background</h4> Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic...

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Literature Corpus work: 75a77262-dd50-5c4c-8341-405fdfbeb319
DOI: 10.1101/2020.01.08.897223

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