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1 record(s) found for principle investigator "Arbour, Laura" (multi-year projects are grouped):
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Should Newborn Screening be Initiated in the Northwest Territories for Mild CPT1 (Carnitine Palmitoyl Transferase-1) Deficiency?
Principal Investigator: Arbour, Laura
Licenced Year(s): 2010 2009 2008 2007
Summary: The goals of this study are: 1. To determine the NWT-wide and regional specific prevalence of a genetic change, known as the P479L variant, associated with mild Carnitine Palmitoyl Transferase-1 (CPT1) Deficiency. 2. To determine the prevalence of the P479L variant in infants who died unexpectedly (from infection or unknown causes) in NWT. 3. To determine whether the P479L variant is associated...


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