Pompe's Disease: Detection of Heterozygotes by Lymphocyte Stimulation

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Science  26 Dec 1969:
Vol. 166, Issue 3913, pp. 1632-1633
DOI: 10.1126/science.166.3913.1632


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.

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