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