Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations

J Pediatr Gastroenterol Nutr. 2024 May;78(5):1203-1204. doi: 10.1002/jpn3.12171. Epub 2024 Mar 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bile Acids and Salts* / metabolism
  • Cholic Acid*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Plectin* / genetics
  • Plectin* / metabolism
  • Treatment Failure

Substances

  • Bile Acids and Salts
  • Cholic Acid
  • PLEC protein, human
  • Plectin