Article
Fractures in children with Pompe disease: a potential long-term complication.
Pediatric radiology - 1 May 2007
Case Laura E, Hanna Rabi, Frush Donald P, Krishnamurthy Vidya, DeArmey Stephanie, Mackey Joanne, Boney Anne, Morgan Claire, Corzo Deyanira, Bouchard Susan, Weber Thomas J, Chen Yuan-Tsong, Kishnani Priya S
Abstract excerpt
BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly and profound weakness, leads to death in the first year of life from cardiorespiratory failure. Reversal of cardiomyopathy and improved motor function have...
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