Titlebook: Lysosomal Storage Disorders; John A. Barranger,Mario A. Cabrera-Salazar Book 2007 Springer-Verlag US 2007 Glycogen.Lipid.Polysaccharid.enz

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Lysosomal Biogenesis and Disease,–lysosome biogenesis and function is susceptible to the effects of mutation and can therefore result in a genetic disease. Even for defects in the same gene, different mutations may have dramatically different effects based on how the message and gene product interact with the processing machinery a

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The Concept of Treatment in Lysosomal Storage Diseases,ved that this cerebroside accumulated in the organs and tissues of patients with Gaucher disease. However, the optical rotation of an aqueous solution of the sugar derived from the accumulating cerebroside was incompatible with its being galactose. In 1934, Aghion reported that the sugar moiety of t

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