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- W2040274139 abstract "The determination of α-galactosidase in urine can be used as a simple method for the diagnosis of Fabry hemizygotes. The activity of this enzyme was related to that of N-acetyl-β-glucosaminidase. The ratio N-acetyl-β-glucosaminidase/α-galactosidase in urine was relatively constant in any one individual. In the control group, the mean value of this ratio was 7.4 (range 1.2–20.5). In Fabry hemizygotes (n = 6) the ratio was 50 or higher. Three types of carriers could be recognized, with high (n = 1), intermediate (n = 2) and normal (n = 3) values, so that with this procedure some of the carriers are detected." @default.
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- W2040274139 date "1972-08-01" @default.
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- W2040274139 title "Detection of fabry hemizygotes and heterozygotes by measurement of α-galactosidase in urine" @default.
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- W2040274139 doi "https://doi.org/10.1016/0009-8981(72)90275-6" @default.
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