pompe's disease - DocNeuro https://docneuro.com/tag/pompes-disease/ Up-to-date concepts in neurology Sun, 16 Feb 2014 20:51:12 +0000 en-US hourly 1 https://wordpress.org/?v=6.4.3 Pompe disease https://docneuro.com/pompe-disease/?utm_source=rss&utm_medium=rss&utm_campaign=pompe-disease Sun, 16 Feb 2014 20:51:12 +0000 https://docneuro.jz7sunfr-liquidwebsites.com/pompe-disease/ Pompe disease is an autosomal recessive lysosomal glycogen storage disease. Mutations in the acid alpha-glucosidase (GAA) gene on chromosome 17q25.2-q25.3 result in abnormal accumulation of glycogen within lysosomes and subsequent lysosomal dysfunction. Types of Pompe disease Infantile Pompe’s disease Infantile Pompe’s disease presents in the first months of life with failure to thrive, muscle weakness that manifests […]

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The post Pompe disease appeared first on DocNeuro.

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