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s S46 patients will be captured. More investigation into the willingness of these clinics to participate in the CNDR is required. Some evidence exists that incorporation of Pompe disease into the registry might help to facilitate improved relationships between the genetic, metabolic, and specialty neuromuscular clinics across Canada, which may have important impacts beyond the Pompe disease audience alone.

The Search for Pompe Patients in Canada: Assessing Feasibility of a National Disease Registry to Facilitate Research