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- W2076292298 abstract "Abstract Prenatal diagnosis of type 2 glycogenosis (Pompe's disease) has been done on cultured amniotic fluid cells, using a semi‐automated fluorimetric kinetic assay for α‐D‐glucosidase with 4‐methylumbelliferyl‐ α ‐D‐glucoside as substrate. The activity of the enzyme was related to that of β ‐D‐galactosidase, and found to be absent in cells from an affected fetus. The diagnosis was confirmed in fetal liver, where the same assay was used to show absence of α ‐D‐glucosidase activity with normal β ‐D‐galactosidase activity, and where increased glycogen deposition was demonstrated histologically. This type of assay is generally applicable to lysosomal enzymes, and to other fluorigenic enzyme reactions." @default.
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- W2076292298 title "A sensitive semi‐automated kinetic assay of α‐D‐glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)" @default.
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- W2076292298 doi "https://doi.org/10.1007/bf01805678" @default.
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