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

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 the 2012 r...

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Detalles Bibliográficos
Autores principales: Hoytema van Konijnenburg, Eva M. M., Wortmann, Saskia B., Koelewijn, Marina J., Tseng, Laura A., Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R., van Karnebeek, Clara D. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042729/
https://www.ncbi.nlm.nih.gov/pubmed/33845862
http://dx.doi.org/10.1186/s13023-021-01727-2