Mutant enzymatic and cytological phenotypes in cultured human fibroblasts
JG Leroy, RI DeMars - Science, 1967 - science.org
JG Leroy, RI DeMars
Science, 1967•science.orgFibroblasts 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.
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.
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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