The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)
| Autor: | Willem C. Hülsmann, Johan F. Koster, R.G. Slee |
|---|---|
| Rok vydání: | 1974 |
| Předmět: |
Heterozygote
medicine.medical_specialty Clinical Biochemistry Disease Biochemistry Antibodies Antigen-Antibody Reactions chemistry.chemical_compound Internal medicine Glycogen storage disease type II Leukocytes medicine Humans Lymphocytes Maltose Human liver Glycogen biology business.industry Biochemistry (medical) Heterozygote advantage Syndrome General Medicine Hydrogen-Ion Concentration Glycogen Storage Disease medicine.disease Kinetics Endocrinology Liver Polymorphonuclear cells chemistry biology.protein Antibody Cardiomyopathies business Maltase Glucosidases |
| Zdroj: | Clinica Chimica Acta. 51:319-325 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/0009-8981(74)90319-2 |
| Popis: | The acid maltase activities of human lymphocytes and polymorphonuclear cells from controls and patients suffering from Pompe's disease, have been investigated. The effect of antibody against human liver acid maltase on leucocyte acid maltase was studied. Furthermore, by using glycogen as substrate, it was possible to detect heterozygotes by calculating the ratio of acid and neutral maltase activities in dextran-isolated leucocyte preparations. |
| Databáze: | OpenAIRE |
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