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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8042729/
https://ncbi.nlm.nih.gov/pubmed/33845862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01727-2
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