Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20.
No abstract available

Keywords: Central nervous system; diagnosis; exome/genome sequencing; inborn errors of metabolism; precision medicine.

Publication types

  • Editorial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Early Diagnosis
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Genetic Testing / trends
  • Humans
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / standards
  • Sequence Analysis, DNA / trends