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- W1979797735 abstract "Gaucher's diselse is an inborn error of metabolism in which glucocerebroside accumulates in cells of the reticuloendothelial system due to a marked deficiency in the activity of lysosomal glucocerebrosidase. Five different published fluorometric assay procedures that utilize 4-methylumbelliferyl-β-D-gluco-pyranoside as the substrate to determine β-glucosidase activity in fibroblasts, leukocytes and liver from patients and heterozygote carriers of Gaucher's disease were compared with the results obtained using a glucocerebrosidase assay that employed authentic radiolabeled glucocerebroside as the substrate. When cultured skin fibroblasts were used as a source of enzyme, fluorometric β-glucosidase assays performed either at pH 4–4.05 in the absence of sodium taurocholate or at pH 5.4–5.5 in the presence of the bile salt, all proved effective in confirming the diagnosis of Gaucher's disease and in identifying heterozygous carriers of the disease. The fluorometric β-glucosidase assay procedures that were most effective in evaluating relative glucocerebrosidase activity in leukocytes from patients and carriers of Gaucher's disease were those that included sodium taurocholate in the incubation medium. When human liver biopsy served as the source of enzyme, only the glucocerebrosidase assay employing authentic glucocerebroside substrate proved effective in confirming the diagnosis of Gaucher's disease: fluorometric assays performed at pH 4 or pH 5.4–5.5 in the presence or absence of the bile salt sodium taurocholate do not always identify patients with Gaucher's disease." @default.
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- W1979797735 date "1980-07-01" @default.
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- W1979797735 title "Comparison of various β-glucosidase assays used to diagnose gaucher's disease" @default.
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- W1979797735 doi "https://doi.org/10.1016/0009-8981(80)90090-x" @default.
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