The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

@article{Roscher2014TheNH,
  title={The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.},
  author={Anne Roscher and Jaina Patel and Stacy Hewson and Laura L Nagy and Annette Feigenbaum and Jonathan B. Kronick and Julian A. J. Raiman and Andreas Schulze and Komudi Siriwardena and Saadet Mercimek-Mahmutoglu},
  journal={Molecular genetics and metabolism},
  year={2014},
  volume={113 3},
  pages={171-6}
}
OBJECTIVES Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX. METHODS All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Electronic and paper charts were reviewed for clinical features… CONTINUE READING