Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833882 | Molecular Genetics and Metabolism | 2012 | 14 Pages |
Abstract
⺠Our review identified 81 metabolic diseases causing intellectual disability. ⺠Diagnosis is established via screening tests and digital tools www.treatable-id.org. ⺠Therapeutic modalities (n=91) are generally affordable, accessible, and safe. ⺠Effects include improved primary (cognition / development) and secondary outcomes. ⺠Evidence is limited, but often therapies are effective and 'standard of care'.
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Authors
Clara D.M. van Karnebeek, Sylvia Stockler,