2Martini C,Ciana G,Benettoni A,et al.Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2[J].Neurology,2001,57:906-908
3Oktenli C.Renal magnesium,wasting,hypomagnesemic hypocalcemia,hypocalciuria and osteopenia in a patient with glycogenosis type Ⅱ[J].Am J Nephrol,2000,20:412-417
4王维冶主编.神经病学[M].北京:人民卫生出版社,2006:1 23 8-1240
5Laforet P,Nicolino M,Eymard PB,et al.Juvenile and adult-onset acid maltase deficiency in France:genotype-phenotype correlation[J].Neurology,2000,55:1122-1128
6Cartier L,Cea JG,Slachevsky A.Myopathy caused by acid maltase deficiency in an adult[J].Rev Med Chil,1995,123:758-761
7Moufarrej NA,Bertorini TE.Respiratory insufficiency in adulttype acid maltase deficiency[J].South Med J,1993,86:560-567
8Pascual-Pascual SI,Rubio P,Albajara L,et al.Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy:a case report[J].J Inherit Metab Dis,2006,29:763
9Van der Beck NA,Hagemans ML,van der ploeg AT,et al.Pompe disease(glycogen storage disease type Ⅱ):clinical features and enzyme replacement therapy[J].Acta Neurol Belg,2006,106:82-86
10Raben N,Fukuda T,Gilbert AL,et al.Replacing acid alpha-glucosidase in Pompe disease:recombinant and transgenic enzymes are equipotent,but neither completely clears glycogen from type Ⅱmuscle fibers[J].Mol Ther,2005,1 1:48-56
