Abstract
Pompe’s disease, the infantile form of generalized glycogenesis (infantile type II glycogenesis), is an autosomal recessive lysosomal glycogen storage disease. It presents with early onset of cardiomegaly, hypotonia, cerebral dysfunction, failure to thrive, and early death. Lysosomal glycogen storage affects practically all the tissues in the body and results from a defect of acid α-1,4-glucosidase (or acid maltase). The acid α-glucosidase locus has been localized on chromosome 17.
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10 Glycogen Storage Disease
Suzuki K, Suzuki K (2002) Lysosomal diseases. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 713–714.
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(2007). Glycogen Storage Disease. In: Pediatric Neuropathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-49898-8_10
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DOI: https://doi.org/10.1007/978-4-431-49898-8_10
Publisher Name: Springer, Tokyo
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