Sylvia Stockler

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    Sylvia Stockler
    Division of Biochemical Diseases, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4
    Mol Genet Metab 104:48-60. 2011
  2. ncbi Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012

Collaborators

  • Levinus A Bok
  • Clara D M van Karnebeek
  • Eduard Struys
  • Barb Cheng
  • Hans Hartmann
  • Sravan Jaggumantri
  • Anibh M Das
  • Johanna H van der Lee
  • Jean Paul Collet
  • Curtis R Coughlin
  • Barbara R Plecko
  • Cornelis Jakobs
  • Mary Connolly
  • Sidney M Gospe
  • Graham Sinclair
  • Saadet Mercimek-Mahmutoglu
  • Johan Van Hove
  • Uta Meyer

Detail Information

Publications2

  1. ncbi Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    Sylvia Stockler
    Division of Biochemical Diseases, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4
    Mol Genet Metab 104:48-60. 2011
    ..Commencing treatment with PLP will not delay treatment in patients with pyridox(am)ine phosphate oxidase (PNPO) deficiency who are responsive to PLP only...
  2. ncbi Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012
    ....