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Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

Jules G. Leroy and Robert I. DeMars
Science
New Series, Vol. 157, No. 3790 (Aug. 18, 1967), pp. 804-806
Stable URL: http://www.jstor.org/stable/1721383
Page Count: 3
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Abstract

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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