Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells |
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Authors: | J. Butterworth |
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Affiliation: | (1) Department of Pathology, Royal Hospital for Sick Children, Edinburgh, Scotland |
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Abstract: | Assay of-L-iduronidase, heparin sulphamidase,N-acetyl--D-glucosaminidase, arylsulphatase B,-L-fucosidase,-glucuronidase,-galactosidase and-D-mannosidase in cultured cells is described. Activities in deficient fibroblast strains are compared to control fibroblast strains. The first case of Sanfilippo B in the United Kingdom is reported. A comparison of enzyme activities in cultured fibroblasts and amniotic fluid cells is made. |
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