Pompe's Disease: Detection of Heterozygotes by Lymphocyte Stimulation

26 December 1969

journal article
other
Published by American Association for the Advancement of Science (AAAS) in Science

Vol. 166 (3913) , 1632-1633
https://doi.org/10.1126/science.166.3913.1632

Abstract

A technique has been developed for the detection of inborn errors by multiple enzyme analysis of lymphocytes stimulated by phytohemagglutinin. Its practicality has been demonstrated in Pompe's disease in which there is a deficiency of acid α-1,4-glucosidase (E.C. 3.2.1.20).

Keywords

ENZYME

This publication has 6 references indexed in Scilit:

A METHOD FOR THE RAPID DETERMINATION OF ALKALINE PHOSPHATASE WITH FIVE CUBIC MILLIMETERS OF SERUM
Published by Elsevier ,2021
α-glucosidase activity in human leucocytes
Biochimica et Biophysica Acta (BBA) - General Subjects, 1966
The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-α-1,4-glucan glucohydrolase in human tissues
Biochimica et Biophysica Acta (BBA) - Enzymology and Biological Oxidation, 1965
γ-Globulin production by human lymphocytes in vitro
Experimental Cell Research, 1963
α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)
Biochemical Journal, 1963
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
Journal of Biological Chemistry, 1951