The variability conundrum in neurometabolic degenerative diseases

Clara D. M. van Karnebeek, Phillip A. Richmond, Frans van der Kloet, Wyeth W. Wasserman, Marc Engelen, Stephan Kemp

Research output: Contribution to journalComment/Letter to the editorAcademic

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)367-369
Number of pages3
JournalMolecular Genetics and Metabolism
Volume131
Issue number4
Early online date2020
DOIs
Publication statusPublished - Dec 2020

Keywords

  • Geno-phenotype
  • Inborn error of metabolism
  • Multi-omics profiling
  • Newborn screening
  • Phenotypic modifiers
  • Prevention
  • Therapy
  • X-linked adrenoleukodystrophy

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