| Literature DB >> 404409 |
B S Danes, B K Rottell, L Eviatar, J Stolzenberg.
Abstract
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.Entities:
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Year: 1977 PMID: 404409 PMCID: PMC1013523 DOI: 10.1136/jmg.14.2.103
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318