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Pompe's disease: Diagnosis in kidney and leucocytes using 4‐methylumbelliferyl‐α‐D‐glucopyranoside
Author(s) -
Broadhead D. M.,
Butterworth J.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb01206.x
Subject(s) - maltose , kidney , isoelectric point , chemistry , biochemistry , kidney disease , isoelectric focusing , biology , chromatography , endocrinology , enzyme
The diagnosis of Pompe's disease by the assay of acid α‐glucosidase in kidney and leucocytes was not previously possible because of the presence of another component which had activity at pH 4.0, but was not deficient in the disease. This problem was resolved either by the use of the inhibitors, turanose, maltose and citrate, or by isoelectric precipitation at pH 5.0, which enabled the estimation of acid α‐glucosidase in kidney and leucocytes.