Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment

J Intern Med. 2021 Nov;290(5):942-943. doi: 10.1111/joim.13276. Epub 2021 Mar 24.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Chenodeoxycholic Acid
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Xanthomatosis, Cerebrotendinous* / diagnosis
  • Xanthomatosis, Cerebrotendinous* / therapy

Substances

  • Chenodeoxycholic Acid