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Add Lysosome Diseases to Baby Screenings? University of Washington Study


4/9/2013 8:18:58 AM

Infant testing for debilitating and often fatal lysosomal storage diseases could be integrated with other newborn screenings, a new study reports. Currently, the screening detects six diseases—Krabbe, Pompe, Niemann-Pick, Gaucher, Fabry, and Hurler syndromes—that are associated with enzyme deficiencies within lysosomes, structures that break down large molecules and eliminate waste in most cells. Three others are likely to be added to the screening soon, and more can be added as treatments for the conditions are developed.

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