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- W70582641 abstract "This chapter discusses the glycogen storage disease (gsd/gsd) rat. The glycogen storage diseases (GSDs) or glycogenoses are a group of genetically determined conditions that are characterized by a deficiency of one of the enzymes concerned with the degradation or synthesis of cellular glycogen; the defect may result in the presence of abnormal concentrations of this polysaccharide in one or more organs or tissues and the accumulation of glycogen having an unusual molecular structure. Defects of glycogen metabolism in humans were first reported in the 1920s; however, the fact that these diseases were caused by specific enzyme deficiencies was not appreciated until 30 years later. At the present time, at least 12 different forms of human GSD are recognized; in 10 of these, the deficient enzyme has been identified. There are many biochemical, genetic, and morphological similarities between the condition present in the gsd/gsd rat and human GSD Type IX. In both, the primary deficiency is a lack of hepatic phosphorylase b kinase that is transmitted as a recessive trait. The gsd/gsd rat model, moreover, has the added advantage that the disease is present in every member of an otherwise healthy, normally reproducing colony of common laboratory animals." @default.
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- W70582641 date "1988-01-01" @default.
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- W70582641 title "The Glycogen Storage Disease (gsd/gsd) Rat" @default.
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- W70582641 doi "https://doi.org/10.1016/b978-0-12-152829-4.50007-0" @default.
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