Medicina clinica
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Pompe Disease (PD) is a lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), primarily manifesting as a progressive myopathy with early respiratory involvement. Enzyme replacement therapy (ERT) is available since 2006. ⋯ Not all patients with partial GAA deficiency experience symptoms of PD, and symptomatic patients, despite ERT with recombinant alpha-glucosidase, mostly experience a gradual decline in motor and respiratory function.
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Practice Guideline Case Reports
Surveillance recommendations after endoscopic resection of colorectal polyps.
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Letter Case Reports
Unilateral pulmonary edema after therapeutic toracentesis.