The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
A Roscher, J Patel, S Hewson, L Nagy… - Molecular genetics and …, 2014 - Elsevier
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, biochemical investigations, molecular genetic testing …
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, biochemical investigations, molecular genetic testing …