Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intelle...

Source: Orphanet Journal of Rare Diseases - April 12, 2021 Category: Internal Medicine Authors: Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia St öckler-Ipsiroglu, Carlos R. Ferreira and Clara D. M. van Karnebeek Tags: Review Source Type: research