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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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Detalles Bibliográficos
Autores principales:	Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2018
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763153/ https://www.ncbi.nlm.nih.gov/pubmed/28726811 http://dx.doi.org/10.1038/gim.2017.108

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