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Journals and Conferences
The approach, identification of clinical phenotype followed by lysosomal enzyme assays in cell culture, used in the classification of the genetic mucopolysaccharidoses I-VI has been applied to the chondroitinsulphaturias. There was evidence of heterogeneity in the first 9 patients reported.
Although the six major genetic mucopolysaccharidoses have now been classified on the basis of specific enzyme deficiencies, one group, the chondroitinsulphaturias, seems to be a heterogeneous group not reflecting a single enzyme deficiency (Sly et al., 1973). Of the seven families reported to have members showing chondroitinsulphaturia one had the clinical… (More)
Cultured lymphoid cells of both homozygotes and heterozygotes for cystic fibrosis could be distinguished from those of normals by (1) growth pattern, gross clumping, and (2) a relative increase in dermatan sulfate, with a normal total mucopolysaccharide content. Lines derived from the genetic mucopolysaccharidoses also had these characteristics, but their… (More)