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Science 18 August 1967:
Vol. 157. no. 3790, pp. 804 - 806
DOI: 10.1126/science.157.3790.804
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Articles

Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

Jules G. Leroy 1 and Robert I. DeMars 1

1 Department of Medical Genetics, University of Wisconsin, Madison

Fibroblasts were cultured from the cells of two children who shared some characteristics of Hurler syndrome, but they did not show corneal clouding and excessive excretion of mucopolysaccharides. The fibroblasts differ from those of controls and of patients with typical Hurler syndrome or other mucopolysaccharidoses in that they have abundant cytoplasmic inclusions, striking diminutions in beta-glucuronidase, and elevations in acid phosphatase.


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