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- W2154240981 abstract "The activity of several acid hydrolases was measured in tissues and plasma from patients with juvenile amaurotic idiocy (JAI). Increased activities were found for β-galactosidase, β-glucuronidase, β-acetylglucosaminidase, acid phosphatase and α-fucosidase. No significant changes were found for α-mannosidase, except a slight decrease in plasma. The results show similarities to the findings in gargoylism and a new disease, resembling Hurler's syndrome. These two diseases are supposed to be caused by primary lysosomal enzyme defects. It is suggested that the role of the lysosomes in the pathogenesis of JAI should be studied in more detail." @default.
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- W2154240981 date "1968-11-01" @default.
- W2154240981 modified "2023-10-18" @default.
- W2154240981 title "LYSOSOMAL ENZYMES IN JUVENILE AMAUROTIC IDIOCY" @default.
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- W2154240981 doi "https://doi.org/10.1111/j.1651-2227.1968.tb06976.x" @default.
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