Metabolomics-based screening of inborn errors of metabolism: enhancing clinical application with a robust computational pipeline

HIGHLIGHTS

• who: Brechtje Hoegen et al. from the Department of Human Genetics, Radboud University Medical Center, GA Nijmegen, The Netherlands have published the research work: Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline, in the Journal: Metabolites 2021, 11, 568. of /2021/
• what: Although this approach has proven itself useful over the years, it faces the problem of false-negative diagnosis when the clinical phenotype is incomplete. The authors demonstrate its application in a case study of an IEM diagnosed patient, shedding light on the complete process from . . .
  

   

  

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