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A list of all pages that have property "Has featured excerpt" with value "Pompe disease is a Lysosomal Storage Disease (LSD), also a type of Glycogen Storage Disease (GSD II), that is caused by a deficiency in acid alpha-glucosidase (GAA), also known as acid maltase. GAA deficiency results in the accumulation of glycogen in lysosomes in all tissues. Unlike other GSDs, which affect glycogen synthesis or regulation of energy production, GAA deficiency affects lysosomal-mediated degradation of glycogen. GAA deficiency can present in two forms: an infantile-onset form, which typically involves hypertrophic cardiomyopathy and hypotonia, and a late-onset form, which is characterised by limb girdle and axial weakness and respiratory insufficiency in late disease.". Since there have been only a few results, also nearby values are displayed.

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WikiMSK:Featured Article/1 April 2023 + (Pompe disease is a Lysosomal Storage Disea … Pompe disease is a Lysosomal Storage Disease (LSD), also a type of Glycogen Storage Disease (GSD II), that is caused by a deficiency in acid alpha-glucosidase (GAA), also known as acid maltase. GAA deficiency results in the accumulation of glycogen in lysosomes in all tissues. Unlike other GSDs, which affect glycogen synthesis or regulation of energy production, GAA deficiency affects lysosomal-mediated degradation of glycogen. GAA deficiency can present in two forms: an infantile-onset form, which typically involves hypertrophic cardiomyopathy and hypotonia, and a late-onset form, which is characterised by limb girdle and axial weakness and respiratory insufficiency in late disease.respiratory insufficiency in late disease.)

WikiMSK:Featured Article/1 April 2023 +