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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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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Accesso online: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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