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The metabolic error in I-cell disease (i., deciency of phosphotransferase activity) gives rise to a secondary phenotype of generalized diminished...
The metabolic error in I-cell disease (i.e., deficiency of phosphotransferase activity) gives rise to a secondary phenotype of generalized diminished lysosomal enzyme activity. What other metabolic defects in the mannose 6-phosphate-mediated uptake system could result in such a phenotype, and how could you confirm the defect?
