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3 Cards in this Set
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- Back
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2 key clinical features of Pompe disease |
Hypotonia and hypertrophic cardiomyopathy |
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Pathophysiology of Pompe disease |
Lyososomal storage disorder. Deficiency of enzyme acid-alpha glucosidase. Results in build up of glycogen in lysosomes and cytoplasm = tissue destruction. |
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Genetics of Pompe disease |
Autosomal recessive |
