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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Autor:
Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-35 (2021)
Abstract Background 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 intellectual disability (coll
Externí odkaz:
https://doaj.org/article/2ede3e14d0294477bf599a788b337354