IEMbase

Other names: iembase

Inborn Errors of Metabolism Knowledgebase (IEMbase) accepts an array of biochemical and clinical symptoms from a user and returns a ranked list of possible IEM disorders that match the input profile. In addition, the system can explain the rationale of its results, suggest possible tests that would assist in narrowing down the differential diagnosis, and provide access to its database of biochemical, molecular, and clinical information if more evidence is desired.

Webpage:
http://iembase.org/

Publications:

Tags:

medicine biomarkers metabolomics rare diseases

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