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Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX

  • University of Michigan Medical School
  • Baylor College of Medicine

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Article number75
JournalOrphanet Journal of Rare Diseases
Volume21
Issue number1
DOIs
StatePublished - Dec 2026
Externally publishedYes

ASJC Scopus Subject Areas

  • Genetics(clinical)
  • Pharmacology (medical)

Keywords

  • Bile acid metabolism
  • CYP27A1
  • Cerebrotendinous xanthomatosis
  • Chenodeoxycholic acid
  • Ferroptosis
  • Metabolomics
  • Phosphatidylethanolamine

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