دانلود کتاب اختلالات ذخیره سازی لیزوزومی – راهنمای عملی

The concept of a lysosomal storage disorder is now almost 50 years old – an appropriate time, we feel, for a new review of the subject. The term lysosome was coined by Christian de Duve [1], the discoverer of this organelle, to reflect its role as the major intracellular site for the enzymatic “lysis” of macromolecules so that they may be recycled. The concept of a lysosomal storage disorder was first proposed by H G Hers [2], following the discovery that one of the glycogen storage diseases (Pompe disease, acid maltase deficiency) was due to deficiency of a lysosomal enzyme. The concept of “cross-correction,” formulated by Elizabeth Neufeld [3] and her group after the discovery that co-cultured fibroblasts derived from two patients with different lysosomal storage disorders mutually corrected each other, led to the notion of “enzyme replacement therapy” (ERT). Roscoe Brady not only discovered the enzymatic basis for Gaucher disease and Fabry disease but also pioneered ERT for humans