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Biochemical/Metabolic Genetics and Clinical Genetics
MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

Authors

  • Clara DM van Karnebeek 1Division of Biochemical Diseases; Department of Pediatrics; Treatable Intellectual Disability Endeavour in British Columbia (Www.tidebc.org); BC Children’s Hospital, University of British Columbia, Vancouver, B. C. Canada PubMed articlesGoogle scholar articles
  • W Al-Hertani 2Department of Human Genetics, McGill University Health Centre, Montreal QC, Canada PubMed articlesGoogle scholar articles
  • S Jaggumantri 1Division of Biochemical Diseases; Department of Pediatrics; Treatable Intellectual Disability Endeavour in British Columbia (Www.tidebc.org); BC Children’s Hospital, University of British Columbia, Vancouver, B. C. Canada PubMed articlesGoogle scholar articles
  • C Coughlin 3The Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, USA PubMed articlesGoogle scholar articles
  • S Stockler 1Division of Biochemical Diseases; Department of Pediatrics; Treatable Intellectual Disability Endeavour in British Columbia (Www.tidebc.org); BC Children’s Hospital, University of British Columbia, Vancouver, B. C. Canada PubMed articlesGoogle scholar articles
  • H Hans Hartmann 4Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany PubMed articlesGoogle scholar articles
  • J Van Hove 3The Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, USA PubMed articlesGoogle scholar articles

Citation

van Karnebeek CD, Al-Hertani W, Jaggumantri S, et al
MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency
Journal of Medical Genetics 2015;52:A9.

Publication history

  • First published December 4, 2015.
Online issue publication 
April 27, 2016

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© 2015, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions