Factors influencing clinical outcome in patients with primary hyperoxaluria type 1

Academic Article

Abstract

  • The renal outcome in patients with primary hyperoxaluria type 1 is partly determined by AGXT mutations, including but not limited to the p.Gly170Arg mutation. The study by Mandrile et al. reports on the largest cohort of patients genotyped yet, with long-term renal survival and medical treatment by pyridoxine. In addition to the common p.Gly170Arg mutation, three other mutations were shown to be potentially associated with slower evolution.
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    Digital Object Identifier (doi)

    Author List

  • Fargue S
  • Start Page

  • 1074
  • End Page

  • 1076
  • Volume

  • 86
  • Issue

  • 6