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Storage and secondary use of bloodspots collected for newborn screening raises controversies because of the particularly sensitive nature of the information that can be derived from them and the lack of national standards and consistent provincial policies that can serve to guide storage facilities. This report, derived through a review of Canadian and provincial policy statements, a survey of provincial...
Objective: To identify the molecular basis of arylsulfatase A deficiency in a family at risk for metachromatic leukodystrophy (MLD) and determine the genetic risk in the offspring.Methods: Mutations in the arylsulfatase A gene were identified by PCR amplification and restriction enzyme digestion. Individuals had previously been tested for arylsulfatase A activity.Results: Assays of arylsulfatase A...
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