Article

Extending Inherited Metabolic Disorder diagnostics with Biomarker Interaction Visualizations

2022-02-04

Abstract excerpt

<h4>Background</h4> Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions. IMDs often present with non-specific symptoms, a lack of a clear genotype-phenotype correlation, and de novo mutations, complicating diagnosis. Furthermore, products of one metabolic conversion can be the substrate of another pathway obscuring bio...

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Literature Corpus work: b160d049-9b3a-5d4a-815a-cf9651c93396
DOI: 10.1101/2022.01.31.21265847

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