Publication | Closed Access
Pompe's Disease: Detection of Heterozygotes by Lymphocyte Stimulation
37
Citations
7
References
1969
Year
ImmunodeficienciesImmunologyPathologyLymphocyte StimulationBioanalysisHematologySerologic TestingLaboratory MedicinePrimary ImmunodeficiencyAutoimmune DiseaseAllergyInherited Metabolic DiseaseAutoimmunityImmunologic DiseaseInborn Error Of ImmunityAcid Alpha-1,4-glucosidaseInborn ErrorsDisease MechanismPathogenesisMultiple Enzyme AnalysisMedicine
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 alpha-1,4-glucosidase (E.C.3.2.1.20).
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