Article

Mapping the Landscape of Treatable Inborn Errors of Metabolism: A Systematic Gene-Level Evaluation Based on the ICIMD Classification

2026-05-18

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Inborn errors of metabolism (IEMs) are among the most clinically actionable groups of rare genetic diseases, yet therapeutic knowledge remains distributed across multiple databases, complicating consistent identification of treatable IEMs. <bold>Methods:</bold> In this study, we performed a cross-database analysis to characterize the current therapeutic lan...

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Literature Corpus work: b0fa0850-1c00-591b-a1f7-a6f8a976b58c
DOI: 10.21203/rs.3.rs-9355661/v1

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