Biochemistry and Genetics of gangliosidoses

@article{Sandhoff2004BiochemistryAG,
  title={Biochemistry and Genetics of gangliosidoses},
  author={K. Sandhoff and H. Christomanou},
  journal={Human Genetics},
  year={2004},
  volume={50},
  pages={107-143}
}
SummaryThe gangliosidoses comprise an-ever increasing number of biochemically and phenotypically variant diseases. In most of them an autosomal recessive inherited deficiency of a lysosomal hydrolase results in the fatal accumulation of glycolipids (predominantly in the nervous tissue) and of oligosaccharides.The structure, substrate specificity, immunological properties of and genetic studies on the relevant glycosidases, ganglioside GM1 β-galactosidase and β-hexosaminidase isoenzymes, are… Expand

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