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Infantile amaurotic idiocy — the classical type known as “Tay-Sachs disease” — is the consequence of the accumulation of a ganglioside and a closely related derivative in the human brain. The accumulation of both substances is due to a genetically induced deficiency of their common catabolic enzyme system. K. Sandhoff discovered three enzymic variants of the disease, which, taken together, did not reveal any apparent causal relationship between enzymic defect and substrate accumulation. The role of chance and discovery in finding the three variants as well as in the elucidation of their causes is described.  相似文献   

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The physical and chemical properties of polycyclic aromatic hydrocarbons depend on the size (number of carbon centres) and the topology of the systems. Consequently structure/property relations can be treated as quantitative analogy models with size and topology as the independent variables. This class of compounds is the example par excellence to put forward a general view in chemistry, i.e. topological chemistry.  相似文献   

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