The mucopolysaccharidoses.

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Abstract
With suitable assay procedures enzyme discoveries should enable an unequivocal diagnosis of the different mucopolysaccharidoses [in humans]. Until suitable enzyme assays are available, urine analysis will retain a significant role in diagnosis, coupled with fibroblast culture studies (labeled sulfate uptake and cross correction). Enzyme assays on cultured amniotic fluid cells will permit improved intrauterine diagnosis in early pregnancy. The discovery of the enzyme defects offers an opportunity for therapeutic replacement.