doi: 10.1007/BF01805711.
Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells
- PMID: 117232
- DOI: 10.1007/BF01805711
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Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells
J Inherit Metab Dis.
1978.
Abstract
Assay of alpha-L-iduronidase, heparin sulphamidase, N-acetyl-alpha-D-glucosaminidase, arylsulphatase B, alpha-L-fucosidase, beta-glucuronidase, beta-galactosidase and alpha-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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