Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

N Engl J Med. 2021 Jun 3;384(22):2159-2161. doi: 10.1056/NEJMc2100365.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / diagnostic imaging
  • Brain Diseases / congenital
  • Brain Diseases / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Precision Medicine
  • Time Factors
  • Tomography, X-Ray Computed
  • Whole Genome Sequencing / methods*