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Matches in SemOpenAlex for { <https://semopenalex.org/work/W3003198077> ?p ?o ?g. }

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• W3003198077 abstract "Lysosomes are important organelles where degradation of macromolecules occurs through enzymatic cascades and deficiency in the enzymes due to genetic mutations can lead to the accumulation of the substrate causing lysosomal storage disorders. In this chapter, we focus on the different LSD associated with defective glycoprotein, glycolipid, sialic acid, and glycogen storage and degradation, the defects in the enzymes and genes involved, and the nature and symptoms and pathophysiology of the disease." @default.
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• W3003198077 date "2020-02-01" @default.
• W3003198077 modified "2023-09-30" @default.
• W3003198077 title "Case report of the first patient treated with ex-vivo autologous haematopoietic stem cell gene therapy transplant in mucopolysaccharidosis type IIIA" @default.
• W3003198077 doi "https://doi.org/10.1016/j.ymgme.2019.11.225" @default.
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