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Pompe Disease : Literature Review and Case Series

Authors:	Majed Dasouki Omar Jawdat Osama Almadhoun Mamatha Pasnoor April L. McVey Ahmad Abuzinadah Laura Herbelin Richard J. Barohn Mazen M. Dimachkie

Affiliation:	1. Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA;2. Department of Genetics, King Faisal Specialist Hospital & Research Center, MBC-03-30, PO Box 3354, Riyadh 11211, Saudi Arabia;3. Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA;4. Department of Pediatrics, University of Kansas Medical Center, Mailstop 4004, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA

Abstract:

Keywords:	Metabolic myopathy Hypotonia Autosomal recessive Enzyme replacement therapy Newborn screening Lysosomal glycogen storage disease
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