The challenges of managing coexistent disorders with phenylketonuria: 30 cases


MacDonald A., Ahring K., Almeida M. F. , Belanger-Quintana A., Blau N., Burlina A., ...More

MOLECULAR GENETICS AND METABOLISM, vol.116, no.4, pp.242-251, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 116 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ymgme.2015.10.001
  • Title of Journal : MOLECULAR GENETICS AND METABOLISM
  • Page Numbers: pp.242-251

Abstract

Introduction: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study.