POMPES DISEASE - DETECTION OF HETEROZYGOTES BY LYMPHOCYTE STIMULATION

被引:49
作者
HIRSCHHORN, K
NADLER, HL
WAITHE, WI
BROWN, BI
HIRSCHHORN, R
机构
[1] Department of Pediatrics, Northwestern University School of Medicine, Chicago, IL
[2] Department of Biological Chemistry, Washington University School of Medicine, St. Louis, MO
[3] Department of Medicine, New York University School of Medicine
关键词
D O I
10.1126/science.166.3913.1632
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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).
引用
收藏
页码:1632 / +
页数:1
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