Sylvia Stockler

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. doi Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
    Sylvia Stockler-Ipsiroglu
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada Electronic address
    Mol Genet Metab 111:16-25. 2014
  2. pmc The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Orphanet J Rare Dis 7:47. 2012
  3. doi 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
  4. doi 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
  5. doi Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada Electronic address
    Mol Genet Metab 111:462-6. 2014
  6. doi Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 106:478-81. 2012
  7. doi Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 105:155-8. 2012
  8. doi Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats
    Peter W Schutz
    Department of Pediatrics, University of British Columbia, British Columbia Children s Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H
    Mol Genet Metab 103:179-84. 2011
  9. doi Granulomatous herpes simplex encephalitis in an infant with multicystic encephalopathy: a distinct clinicopathologic entity?
    Peter W Schutz
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada Electronic address
    Pediatr Neurol 50:392-6. 2014
  10. doi Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients
    Lorne Andrew Clarke
    Department of Medical Genetics, The Child and Family Research Institute, University of British Columbia, 4500 Oak Street, RM C234, Vancouver, BC, Canada, V6H 3N1
    J Inherit Metab Dis 35:355-62. 2012

Collaborators

Detail Information

Publications12

  1. doi Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
    Sylvia Stockler-Ipsiroglu
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada Electronic address
    Mol Genet Metab 111:16-25. 2014
    ..One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes...
  2. pmc The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Orphanet J Rare Dis 7:47. 2012
    ..The WebAPP translates this knowledge of rare diseases into a diagnostic tool and information portal...
  3. doi 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...
  4. doi 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
    ....
  5. doi Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada Electronic address
    Mol Genet Metab 111:462-6. 2014
    ..For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. ..
  6. doi Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 106:478-81. 2012
    ..In the E. coli expression system all the mutants were stably expressed but lacked enzymatic activity. This is consistent with pathogenicity of these mutations in vivo...
  7. doi Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 105:155-8. 2012
    ..We report the most favorable clinical and biochemical outcome on treatment in our patient...
  8. doi Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats
    Peter W Schutz
    Department of Pediatrics, University of British Columbia, British Columbia Children s Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H
    Mol Genet Metab 103:179-84. 2011
    ..The biochemical basis for this ambivalent effect is not known. It may be related to an anaplerotic or gluconeogenetic deficit of 3OHB...
  9. doi Granulomatous herpes simplex encephalitis in an infant with multicystic encephalopathy: a distinct clinicopathologic entity?
    Peter W Schutz
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada Electronic address
    Pediatr Neurol 50:392-6. 2014
    ..Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis...
  10. doi Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients
    Lorne Andrew Clarke
    Department of Medical Genetics, The Child and Family Research Institute, University of British Columbia, 4500 Oak Street, RM C234, Vancouver, BC, Canada, V6H 3N1
    J Inherit Metab Dis 35:355-62. 2012
    ..This study highlights the utility and biologic relevance of serum HCII-T levels in monitoring therapy in these disorders...
  11. doi Effects of d-3-hydroxybutyrate treatment on hypoglycemic coma in rat pups
    Peter W Schutz
    Department of Pediatrics, British Columbia Children s Hospital and University of British Columbia, Vancouver, BC, Canada
    Exp Neurol 227:180-7. 2011
    ..3OHB treatment delays the onset of clinical and burst-suppression coma during hypoglycemia, but the prolonged duration of hypoglycemia is associated with increased mortality after resuscitation and cellular white matter injury...
  12. ncbi Vitamin B6 dependent seizures
    Barbara Plecko
    Division of Biochemical Diseases and Cystic Fibrosis, Children s and Women s Health Center, University of British Columbia, Vancouver, BC, Canada
    Can J Neurol Sci 36:S73-7. 2009
    ..Especially in neonatal, therapyresistant seizures, these disorders have to be considered early, to prevent irreversible neurologic damage...