Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.


OBJECTIVE Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy (ERT) significantly increases survival, its potential limitation is that the drug cannot cross the blood-brain barrier. We therefore investigated long-term cognitive development in patients… (More)
DOI: 10.1212/WNL.0b013e3182553c11


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