Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.

Abstract excerpt

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-a-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction. Patient age at the onset of Pompe disease symptoms and the rate of deterioration can vary considerably. In early onset patients (the classical infantile form)...

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