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Related Experiment Videos

[Lysosome disease--Sandhoff disease]

I Eguchi1, N Wakamatsu, R Nakano

  • 1Department of Neurology, Niigata University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|September 1, 1993
PubMed
Summary

Sandhoff disease, a lysosomal disorder, results from defects in the HEXB gene, impacting both hexosaminidase A and B. Genetic analysis reveals various mutations correlating with disease presentation and severity.

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Area of Science:

  • Biochemistry and Molecular Genetics
  • Lysosomal Storage Disorders
  • Enzyme Deficiencies