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Enzyme replacement therapy for lysosomal storage diseases (Ramot)
总结
Lysosomal Storage diseases (LSD) are inherited genetic defects, resulting in an enzyme deficiency.
This deficiency prevents the lysosome from metabolizing cellular waste, and results in their accumulation in the cell. Excessive storage of proteins, saccharides and/or fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.
ID号码
10-2013-555
国家/地区
以色列
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