Genetic heterogeneity within the chondroitinsulphaturias.
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.
D002478:Cells, Cultured; D002807:Chondroitin / Q000031:analogs & derivatives*; D002809:Chondroitin Sulfates / Q000652:urine*; D005838:Genotype; D005966:Glucuronidase / Q000172:deficiency; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009083:Mucopolysaccharidoses / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype
D002807:Chondroitin; D002809:Chondroitin Sulfates; D005966:Glucuronidase