Corpus ID: 81932188

Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

@article{Ja1979EvidenceFA,
  title={Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.},
  author={Lowden Ja},
  journal={American Journal of Human Genetics},
  year={1979},
  volume={31},
  pages={281-289}
}
  • Lowden Ja
  • Published 1979
  • Chemistry
  • American Journal of Human Genetics
Patients with Sandhoff disease have less than 5% of normal levels of serum or tissue hexosaminidase activity. They are thought to have a defect in the structural gene for the beta chain of hexosaminidase (HEX). Heterozygotes for Sandhoff disease have approximately 50% of the total serum HEX activity of normals and more than 75% of the HEX is heat-labile. In normals, only 55%--65% of serum HEX is heat-labile. Serum HEX separates into three forms on DEAE cellulose chromatography: HEX A, a… Expand
17 Citations
Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.
Biochemistry and Genetics of gangliosidoses
Acid β-mannosidase of human plasma: Influence of age and sex on enzyme activity
Tay-Sachs disease: B1 variant.
...
1
2
...