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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Genet Med
Hauptverfasser: Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2018
Schlagworte:
Original Research Article
Online Zugang: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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