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2) Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999; 7: 713-6
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4) Moreland RJ, Jin X, Zhang XK, et al. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem. 2005; 280: 6780-91
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9) Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001; 3: 132-8
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10) Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006; 149: 89-97
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14) van der Ploeg A, Marsden DM. Response to enzyme replacement therapy in 18 juvenile and adult patients with severe Pompe Disease. AAN Abstracts. 2007; SCO1: 003
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15) van Capelle CI, Winkel LP, Hagemans ML, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008; 18: 447-52
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17) Raben N, Jatkar T, Lee A, et al. Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Mol Ther. 2002; 6: 601-8
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18) Raben 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 II muscle fibers. Mol Ther. 2005; 11: 48-56
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22) Fukuda T, Ahearn M, Roberts A, et al. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther. 2006; 14: 831-9
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24) Jack RM, Gordon C, Scott CR, et al. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006; 8: 307-12
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25) Okumiya T, Keulemans JL, Kroos MA, et al. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab. 2006; 88: 22-8
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26) Winchester B, Bali D, Bodamer OA, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008; 93: 275-81
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27) Li Y, Scott CR, Chamoles NA, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem. 2004; 50: 1785-96
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28) Chien YH, Chiang SC, Zhang XK, et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics. 2008; 122: e39-45
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29) Kemper AR, Hwu WL, Lloyd-Puryear M, et al. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007; 120: e1327-34
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30) 杉江秀夫. 筋型糖原病に起因する横紋筋融解症およびその関連症状の病態生理の解明と治療法の開発に関する研究. 筋ジストロフィーおよびその関連する疾患の病態生理の解明と治療薬物の開発に関する研究 清水班 厚生労働省平成17~19年度研究報告書. 2008. p. 74-5
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31) Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005; 128: 671-7
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