Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.

Abstract excerpt

Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replacement therapy has...

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