Browsing by Author "Korkmaz, F. Kalender"
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Enzyme Replacement Therapy in an Infant with Pompe's Disease with Severe Cardiomyopathy
Tanzer, F.; Buyukkayhan, D.; Mutlu, E. Cansu; Korkmaz, F. Kalender (WALTER DE GRUYTER GMBH, 2009)Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. A 4 month-old girl presented with rapid disease progression, exhibiting severe hypotonia, and hypertrophic ...