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Abstract

Abstract  The evaluation of improvements in the response to treatment of 65 inborn errors of metabolism reviewed in 1993 has been reviewed recently by Campeau and colleagues (see Supplement attached to this chapter). Improvements in the overall response to treatment have resulted from increased understanding of the pathophysiology of the conditions, improved diagnostic technologies, and acceleration of protein-replacement strategies with the increase in small-molecule treatments, including substrate-reduction therapy for the lysosomal disorders, chaperone therapy, and drugs causing stop-codon read-through.

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