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• W1974010766 abstract "Spontaneously occurring genetic lysosomal storage diseases are as rare in other mammalian species as in man. However, the advent of gene targeting technology has revolutionized the state of animal models of genetic diseases. Nearly all lysosomal storage diseases known in man have been duplicated in the mouse. The technology now allows, not only complete inactivation of endogenous genes, but also the introduction of essentially any type of mutation. These animal models can overcome many of the limitations inherent in studies of human patients--rarity of the disease, extremely complex genetic background and logistical and ethical constraints in the design and execution of experiments with human subjects. For example, genetic manipulations of germ cells or cross-breeding experiments between two mutants are readily feasible with animal models. Two major areas of the utility of animal models are the clarification of the pathophysiology/pathogenetic mechanism of disease and the exploration of therapeutic approaches. Examples of experiments using animal models of lysosomal storage disease are presented, primarily from studies undertaken in our own laboratory.Animal models have proved invaluable in extending our knowledge of the lysosomal storage diseases and exploring potential therapies." @default.
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• W1974010766 date "2007-01-02" @default.
• W1974010766 modified "2023-09-23" @default.
• W1974010766 title "Are animal models useful for understanding the pathophysiology of lysosomal storage disease?" @default.
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• W1974010766 doi "https://doi.org/10.1111/j.1651-2227.2003.tb00223.x" @default.
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