1. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency;Hirschhorn;The Metabolic and Molecular Basis of Inherited Disease, 8th edition,2001
2. Kishnani P, Hwu W, Mandel H, Nicolino M, et al. On behalf of the infantile-onset Pompe disease natural history study group; a retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr (in press).