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1)藤川謙人,鈴木 健,穴澤 昭,他.乾燥濾紙血液を用いた糖原病II型の酵素学的スクリーニング法の研究: 免疫捕捉酵素活性測定法と競合的酵素阻害法の比較.日本マス・スクリーニング学会誌.2011; 21: 233-41
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2)Chien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009; 124: e1116-25
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3)Schüller A, Wenninger S, Strigl-Pill N, et al. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012; 160C: 80-8
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4)Hobson-Webb LD, Proia AD, Thurberg BL, et al. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012; 106: 462-9
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5)Dubrovsky A, Corderi J, Lin M, et al. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve. 2011; 44: 897-901
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6)Remiche G, Herbaut AG, Ronchi D, et al. Incontinence in late-onset Pompe disease: an under-diagnosed treatable condition. Eur Neurol. 2012; 68: 75-8
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7)Ebbink BJ, Aarsen FK, van Gelder CM, et al. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2012; 78: 1512-8
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8)Borroni B, Cotelli MS, Premi E, et al. The brain in late-onset glycogenosis II: a structural and functional MRI study. J Inherit Metab Dis. 2013; 36: 989-95
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9)Falk DJ, Todd AG, Lee S, et al. Peripheral nerve and neuromuscular junction pathology in Pompe disease. Hum Mol Genet. 2015; 24: 625-36
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10)Todd AG, McElroy JA, Grange RW, et al. Correcting neuromuscular deficits with gene therapy in Pompe disease. Ann Neurol. 2015; 78: 222-34
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11)Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with algulucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009; 66: 329-35
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12)Prater SN, Banugaria SG. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012; 14: 800-10
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13)Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013; 260: 951-9
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14)Regenery C, Kornblum C, Hanisch F, et al. 36 months observational clinical study of 38 adult Pompe patients under alglucosidase alpha enzyme replacement therapy. J Inherit Metab Dis. 2012; 35: 837-45
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15)Angelini C, Semplicini C, Ravaglia S, et al. Observation clinical study in juvenile-adult glyco-genosis type 2 patients undergoing enzyme replacement theratpy for up to 4 years. J Neurol. 2011; 259: 952-8
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16)Kishnani PS, Goldenberg PC, DeAmrmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010; 99: 26-33
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17)Mendelsohn NJ, Messinger YH, Rosenberg AS, et al. Elimination of antibodies to recombinant enzyme in Pompeʼs disease. N Eng J Med. 2009; 360: 194-5
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18)Lacaná E, Yao LP, Pariser AR, et al. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. Am J Med Genet C Semin Med Genet. 2012; 160C: 30-9
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19)Banugaria SG, Prater SN, McGann JK, et al. Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genet Med. 2013; 15; 123-31
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20)Raben N, Takikita S, Pittis MG, et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Auto-phagy. 2007; 3: 546-52
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21)Nascimbeni AC, Fanin M, Masiero E, et al. The role of autophagy in the pathogenesis of glycogen storage disease type II (GSD II). Cell Death Differ. 2012; 19: 1698-708
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22)Sparmpanato C, Feeney E, Li L, et al. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med. 2013; 5: 691-706
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23)Martina JA, Diab HI, Lishu L, et al. The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris. Sci Signal. 2014; 7: ra9
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24)Zhu Y, Jiang JL, Gumlaw NK, et al. Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther. 2009; 17: 954-63
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25)Koeberl DD, Austin S, Case LE, et al. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J. 2014; 28: 2171-6
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26)Porto C, Cardone M, Fontana F, et al. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther. 2009; 17: 964-71
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27)Parenti G, Fecarotta S, la Marca G, et al. A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther. 2014; 22: 2004-12
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28)Smith BK, Collins SW, Conlon TJ, et al. Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther. 2013; 24: 630-40
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29)Todd AG, McElroy JA, Grange RW, et al. Correcting neuromuscular deficits with gene therapy in Pompe disease. Ann Neurol. 2015; 78: 222-34
PubMed CrossRef
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30)Han SO, Li S, Brooks ED, et al. Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockade. Hum Gene Ther. 2015; 26: 26-35
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31)Douillard-Guilloux G, Raben N, Takikita S, et al. Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II. Hum Mol Genet. 2008; 17: 3876-86
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32)Clayton NP, Nelson CA, Weeden T, et al. Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease. Mol Ther Nucleic Acids. 2014; 3: e206
PubMed
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