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- W4294286511 abstract "Lysosomes are cells that are specially designed for the degradation of biomolecules. When a defect occurs in the lysosomes they result in a disorder called lysosomal storage disorder (LSD). Sandhoff disease is one such LSD that occurs due to the deficiency of beta-hexosaminidase that will damage the nerve cells in the brain, spinal cord, and other organs. The normal function of the gene HEXB is to make proteins but when the gene gets mutated it results in the degradation of neutral substrates and dermatan sulfate, which in turn leads to the accumulation of globosides in the serum, spleen, liver, lymph nodes, lungs, kidneys, and erythrocytes. This in turn can be treated by modern tests such as bone marrow transplantation, Enzyme Replacement Therapy, Gene Therapy, Small Molecule Therapy, Substrate Reduction Therapy, and Enhanced Gene Therapy through Complimentary Drug Therapy. Hence, in this chapter, we have discussed the cause and the developing treatments which are under study using animal models including future developments." @default.
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- W4294286511 date "2022-01-01" @default.
- W4294286511 modified "2023-09-26" @default.
- W4294286511 title "Sandhoff disease: pathology and advanced treatment strategies" @default.
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- W4294286511 doi "https://doi.org/10.1016/b978-0-323-99616-7.00011-6" @default.
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