4Ausems MG, Wokke JH, Reuser AJ,et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotypecorrelation[J]. Neurology,2001,57(10):1938
5Ausems MG, ten Berg K, Beemer FA,et al.phenotypic expression of late-onset glycogen storage disease type II:identification of asymptomatic adults through family studies and review of reported families[J]. Neuromuscul Disord,2000,10(7):467
6Ausems MG, Lochman P, van Diggelen OP,et al.A diagnostic protocol for adult-onset glycogen storage disease type II[J]. Neurology,1999,52(4):851
7Mokos MM, McComb RD, Hard MM,et al.α-glucosidase deficiency and basilar artery aneurysm.report of a sibship[J]. Ann Neurol,1987,22:629
8Matsuoka Y, Sinda Y, Hirayama M, et al. Adult-onset acid maltase deficiency associated with intracranial aneurysm[J]. J Neurol,1988,235:371
9Morisawa Y, Fujieda M, Murakami N, et al. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome[J]. J Neurol Sci,1998,160(2):175
10Kishnani PS,Howell RR.Pompe disease in infants and children[J].J Pediatr,2004,144:35-43
3KISHNANI P S, NICOLINO M, VOIT T. et al. Chinese hamster ovary cell-derived recombinant human acid alpha- glucosidase in infantile-onset Pompe disease [ J]. J Pediatr, 2006, 149 (1): 89-97.
4VAN DEN HOUT J M, KAMPHOVEN J H, WINKEL L P, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk [J]. Pediatrics, 2004, 113 (5): e448-e457.
5HUNLEY T E, CORZO D, DUDEK M, et al. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease [J]. Pediatrics, 2004, 114 (4) : e532-e535.