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• W2313729176 abstract "Lysosomal storage diseases are usually classified into three categories: accumulation of sphingolipids (e. g. Gaucher disease and GM1-gangliosidosis, etc.), accumulation of mucopolysaccharides (e. g. Hurler disease and Hunter disease, etc.) and glycogen storage disorder, as in Pompe disease. All three categories showed a variation of severity and time of onset, etc. These variations have been studied biochemically and genetically (1, 4, 21, 24, 25, 28, 29, 33, 35, 37, 40). The transgenic mouse is considered to be a useful animal model for lysosomal storage diseases.Additionally, the enzymology of lysosomal enzymes has also advanced recently, including knowledge of the intracellular processing mechanism of the enzyme and of the cDNA sequence (5, 7, 9, 10-12, 14, 21-25, 30-34, 36, 38, 41-43).Referring to these recent advances, and based on our previously reported results, we would like to discuss the pathological aspects of the lysosomal storage diseases. In this report, we classified the lysosomal storage diseases into two groups, A and B, according to the types of cells containing the storage substances: In group A, the storage substances are mainly found in the parenchymal cells; in group B, they are observed mainly in the macrophages and other cells of the mononuclear phagocyte system. Pompe disease, in which there is a deficiency of acid a-glucosidase and Hurler disease, in which there is a deficiency of α-L-iduronidase were investigated in groups A and B respectively." @default.
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• W2313729176 date "1990-01-01" @default.
• W2313729176 modified "2023-09-28" @default.
• W2313729176 title "Pathologic studies of lysosomal storage disease." @default.
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• W2313729176 doi "https://doi.org/10.1267/ahc.23.65" @default.
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