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Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy

You Hoon Jeon, Baik-Lin Eun, Chang Sung Son, Dong Hwan Lee

Clin Exp Pediatr. 2007;50(2):213-217. Published online February 15, 2007

Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe...

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