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. 1977 May 10;36(3):307-16.
doi: 10.1007/BF00446281.

Serum hexosaminidase activity in I-cell disease carriers

J Vidgoff, N R Buist

Serum hexosaminidase activity in I-cell disease carriers

J Vidgoff et al. Hum Genet. .

Abstract

Serum heat stable hexosaminidase activities are used to identify 47-I-cell disease heterozygotes in a large kindred. Serum beta-hexosaminidase isozyme patterns in normal individuals, Tay-Sachs disease carriers, I-cell disease carriers and in cord blood samples are compared.

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