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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
PURPOSE: Recognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved...
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| Udgivet i: | Genet Med |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5763153/ https://ncbi.nlm.nih.gov/pubmed/28726811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.108 |
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