Studies in Tay Sachs and Sandhoff's diseases. Immunologic and structural properties of hexosaminidase A and hexosaminidase B

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When heterozygote detection depends only on quantitation of enzyme activity, overlap between values observed in normal individuals and those who are heterozygous for the disorder is certain to occur. Detection of antigenically cross reacting material (CRM) would be of great value in this respect: comparison of enzyme activity with the quantitative antigen present, could greatly increase the accuracy of heterozygote detection. The detection of electrophoretically abnormal CRM would make the diagnosis of the heterozygous state much more certain.

Original languageEnglish (US)
Pages (from-to)1335-1337
Number of pages3
JournalIsrael Journal of Medical Sciences
Issue number9-10
StatePublished - 1973
Externally publishedYes


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