Pompe's disease: Diagnosis in kidney and leucocytes using 4‐methylumbelliferyl‐α‐D‐glucopyranoside
- 1 June 1978
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 13 (6) , 504-510
- https://doi.org/10.1111/j.1399-0004.1978.tb01206.x
Abstract
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.This publication has 8 references indexed in Scilit:
- Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-α-d-glucopyranoside as substrateClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Physico-chemical and immunological properties of acid α-glucosidase from various human tissues in relation to glycogenosis type II (pompe's disease)Clinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)Clinica Chimica Acta; International Journal of Clinical Chemistry, 1974
- The Use of Leucocytes as an Aid in the Diagnosis of a Variant of Glycogen Storage Disease Type II (Pompe's Disease)European Journal of Clinical Investigation, 1972
- Alpha-1,4 glucosidase activity in Pompe's diseaseThe Journal of Pediatrics, 1971
- The use of white cells as a source of diagnostic material for lipid storage diseasesClinica Chimica Acta; International Journal of Clinical Chemistry, 1969
- TISSUE ALPHA-GLUCOSIDASE ACTIVITY AND GLYCOGEN CONTENT IN PATIENTS WITH GENERALIZED GLYCOGENOSIS1967
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951