Affiliation: University of British Columbia
- Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-upSylvia 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...
- Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trialsClara 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....