4Tsujino S, Huie M, Kanazawa N, et al. Frequent mutations in Japanese patients with acid mahase deficiency. Neuromuscul Disord,2000, 10: 599-603.
5Hermans MM, van Leenen D, Kroos MA, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type Ⅱ. Hum Murat, 2004, 23: 47-56.
6Ausems MG, Lochman P, van Diggelen OP, et al. A diagnostic protocol for adult-onset glycogen storage disease type Ⅱ. Neurology,1999, 52: 851-853.
7Umapathysivam K, Hopwood J J, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem, 2001, 47 : 1378-1383.
8Hesselink RP, Wagenmakers AJ, Drost MR, et al. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type Ⅱ. Biochim Biophys Acta, 2003, 1637 : 164-170.
9Haley SM, Fragala MA, Skrinar AM. Pompe disease and physical disability. Dev Med Child Neural, 2003, 45: 618-623.
10Laforet P, Nicolino M, Eymard PB, et al. Juvenile and adult-onset acid maltase deficiency in France: genotypc-phenotype correlation. Neurology, 2000, 55 : 1122-1128.
