The challenges of managing coexistent disorders with phenylketonuria: 30 cases


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

MOLECULAR GENETICS AND METABOLISM, cilt.116, sa.4, ss.242-251, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 116 Konu: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ymgme.2015.10.001
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Sayfa Sayıları: ss.242-251

Özet

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.