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• W2001187144 abstract "Specific activities of beta-D-hexosaminidase, alpha-D-mannosidase, beta-D-galactosidase and beta-D-glucuronidase were determined in fibroblasts of patients with writer's cramp and torticollis. These diseases show degenerative neurological disorders similar to those observed in lysosomal diseases. Hexosaminidase specific activities, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside and 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrates, were significantly higher in the fibroblasts of patients than in controls. No significant differences were observed in the specific activities of the other lysosomal enzymes. The increased hexosaminidase specific activities in torticollis and writer's cramp may be additional markers for these diseases." @default.
• W2001187144 created "2016-06-24" @default.
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• W2001187144 date "1999-10-01" @default.
• W2001187144 modified "2023-09-23" @default.
• W2001187144 title "Elevated β-N-acetylhexosaminidase activity in focal dystonia fibroblasts" @default.
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• W2001187144 doi "https://doi.org/10.1016/s0009-8981(99)00133-3" @default.
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