Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene

J Pediatr Gastroenterol Nutr. 1999 Feb;28(2):210-3. doi: 10.1097/00005176-199902000-00024.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bilirubin / blood
  • Crigler-Najjar Syndrome / diagnosis
  • Crigler-Najjar Syndrome / drug therapy*
  • Crigler-Najjar Syndrome / genetics*
  • Fluid Therapy
  • Glucuronosyltransferase / genetics*
  • Humans
  • Hyperbilirubinemia / genetics
  • Hyperbilirubinemia / therapy
  • Infant, Newborn
  • Male
  • Mutation, Missense*
  • Phenobarbital / therapeutic use*
  • Phototherapy

Substances

  • Glucuronosyltransferase
  • Bilirubin
  • Phenobarbital