Conclusion

Over the last 8-9 years, there have been major advances in understanding the genetics of Sanfilippo A and B. Many mutations have been described, some of which are common, but the majority of which are unique to individual families, making both Sanfilippo A and B genetically heterogeneous. The disease-causing mutations can be identified in the majority of patients diagnosed with Sanfilippo A and B, and accurate carrier detection is available for other family members. Mutation screening in several countries has highlighted the prevalence of particular mutations in different populations and this is important in initial screening programs. By characterizing the genotype in many patients we are able to understand more about the genotype/phenotype correlation in Sanfilippo disease. By analyzing the mutations we can learn more about the function of the enzyme and understand more about the pathogenesis of Sanfilippo disease. Knowing the genotype will be a prerequisite for any form of future therapy and we may be able to predict from the genotype whether there is likely to be any adverse reaction to recombinant enzyme. However, no treatment will be available for Sanfilippo A and B until there is a means by which replacement enzyme can cross the blood-brain barrier in order to treat the major neurological symptoms.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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