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- W4211157220 endingPage "682" @default.
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- W4211157220 abstract "Lysosomal storage disorders are a diverse group of complex-molecule disorders characterized by the accumulation of undegraded or partially substrate(s) within lysosomes, most often due to deficiency of a catabolic enzyme. Clinical manifestations are sundry, affecting nearly every organ system in the body. The understanding of natural history continues to evolve, particularly as disorders are added to newborn screening panels. In the last decade, the advancement of therapeutics for lysosomal storage disorders has been unparalleled in its rapidity and innovation. Current treatments include enzyme replacement therapy, substrate reduction therapy, chaperone therapy, and others. Gene therapy for many disorders will likely be available in the next few years. In this chapter, we review the clinical manifestations, genetic and metabolic basis, diagnosis, and management of lysosomal storage disorders." @default.
- W4211157220 created "2022-02-13" @default.
- W4211157220 creator A5008706711 @default.
- W4211157220 creator A5011258397 @default.
- W4211157220 creator A5069772960 @default.
- W4211157220 creator A5091292795 @default.
- W4211157220 date "2021-01-01" @default.
- W4211157220 modified "2023-10-18" @default.
- W4211157220 title "Lysosomal Storage Disorders" @default.
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