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

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

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 (collectively ‘treatable IDs’). Our aim is to update th...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inborn error of metabolism
Metabolic disorders
Management
Therapy
Epilepsy
Intellectual developmental disorders
Online Access:https://doi.org/10.1186/s13023-021-01727-2

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