{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T05:42:49Z","timestamp":1778910169967,"version":"3.51.4"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"18","license":[{"start":{"date-parts":[[2005,5,26]],"date-time":"2005-05-26T00:00:00Z","timestamp":1117065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2005,5,26]],"date-time":"2005-05-26T00:00:00Z","timestamp":1117065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Gene Ther"],"published-print":{"date-parts":[[2005,9,1]]},"DOI":"10.1038\/sj.gt.3302550","type":"journal-article","created":{"date-parts":[[2005,5,26]],"date-time":"2005-05-26T16:10:26Z","timestamp":1117123826000},"page":"1405-1409","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors"],"prefix":"10.1038","volume":"12","author":[{"given":"C","family":"Mah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K O","family":"Cresawn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"T J","family":"Fraites","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C A","family":"Pacak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Zolotukhin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B J","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,5,26]]},"reference":[{"key":"BF3302550_CR1","first-page":"1139","volume":"13","author":"P Baudhin","year":"1964","unstructured":"Baudhin P, Hers HG . An electron microscopic and biochemical study of type II glycogenosis. Lab Invest 1964; 13: 1139\u20131152.","journal-title":"Lab Invest"},{"key":"BF3302550_CR2","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Diseases","author":"R Hirschhorn","year":"2000","unstructured":"Hirschhorn R, Reuser AJJ . Glycogen storage disease II: acid-alpha glucosidase (acid maltase) deficiency. In: Scriver et al (eds). The Metabolic and Molecular Bases of Inherited Diseases. McGraw Hill: New York, 2000, pp 3389\u20133420."},{"key":"BF3302550_CR3","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1042\/bj0860011","volume":"86","author":"HG Hers","year":"1963","unstructured":"Hers HG . Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 1963; 86: 11\u201316.","journal-title":"Biochem J"},{"key":"BF3302550_CR4","doi-asserted-by":"publisher","first-page":"145","DOI":"10.2174\/1566524024605789","volume":"2","author":"N Raben","year":"2002","unstructured":"Raben N, Plotz P, Byrne BJ . Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2002; 2: 145\u2013166.","journal-title":"Curr Mol Med"},{"key":"BF3302550_CR5","doi-asserted-by":"publisher","first-page":"S61","DOI":"10.1002\/mus.880181414","volume":"3","author":"AJ Reuser","year":"1995","unstructured":"Reuser AJ et al. Glycogenosis type II (acid maltase deficiency). Muscle Nerve 1995; 3: S61\u2013S69.","journal-title":"Muscle Nerve"},{"key":"BF3302550_CR6","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1089\/104303403322124792","volume":"14","author":"TR Flotte","year":"2003","unstructured":"Flotte TR et al. Phase I trial of intranasal and endobronchial administration of a recombinant adeno-associated virus serotype 2 (rAAV2)-CFTR vector in adult cystic fibrosis patients: a two-part clinical study. Hum Gene Ther 2003; 14: 1079\u20131088.","journal-title":"Hum Gene Ther"},{"key":"BF3302550_CR7","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1089\/1043034041361190","volume":"15","author":"TR Flotte","year":"2004","unstructured":"Flotte TR et al. Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum Gene Ther 2004; 15: 93\u2013128.","journal-title":"Hum Gene Ther"},{"key":"BF3302550_CR8","doi-asserted-by":"publisher","first-page":"2963","DOI":"10.1182\/blood-2002-10-3296","volume":"101","author":"CS Manno","year":"2003","unstructured":"Manno CS et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood 2003; 101: 2963\u20132972.","journal-title":"Blood"},{"key":"BF3302550_CR9","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1378\/chest.125.2.509","volume":"125","author":"RB Moss","year":"2004","unstructured":"Moss RB et al. Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: a multicenter, double-blind, placebo-controlled trial. Chest 2004; 125: 509\u2013521.","journal-title":"Chest"},{"key":"BF3302550_CR10","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1006\/mthe.2001.0449","volume":"4","author":"H Chao","year":"2001","unstructured":"Chao H et al. Sustained and complete phenotype correction of hemophilia b mice following intramuscular injection of aav1 serotype vectors. Mol Ther 2001; 4: 217\u2013222.","journal-title":"Mol Ther"},{"key":"BF3302550_CR11","doi-asserted-by":"publisher","first-page":"6081","DOI":"10.1073\/pnas.0937739100","volume":"100","author":"G Gao","year":"2003","unstructured":"Gao G et al. Adeno-associated viruses undergo substantial evolution in primates during natural infections. Proc Natl Acad Sci USA 2003; 100: 6081\u20136086.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF3302550_CR12","doi-asserted-by":"publisher","first-page":"11854","DOI":"10.1073\/pnas.182412299","volume":"99","author":"GP Gao","year":"2002","unstructured":"Gao GP et al. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci USA 2002; 99: 11854\u201311859.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF3302550_CR13","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1038\/nm1085","volume":"10","author":"P Gregorevic","year":"2004","unstructured":"Gregorevic P et al. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med 2004; 10: 828\u2013834.","journal-title":"Nat Med"},{"key":"BF3302550_CR14","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1128\/JVI.76.2.791-801.2002","volume":"76","author":"JE Rabinowitz","year":"2002","unstructured":"Rabinowitz JE et al. Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J Virol 2002; 76: 791\u2013801.","journal-title":"J Virol"},{"key":"BF3302550_CR15","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1128\/JVI.72.1.309-319.1998","volume":"72","author":"EA Rutledge","year":"1998","unstructured":"Rutledge EA, Halbert CL, Russell DW . Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol 1998; 72: 309\u2013319.","journal-title":"J Virol"},{"key":"BF3302550_CR16","doi-asserted-by":"publisher","first-page":"3852","DOI":"10.1128\/JVI.74.8.3852-3858.2000","volume":"74","author":"J Zabner","year":"2000","unstructured":"Zabner J et al. Adeno-associated virus type 5 (AAV5) but not AAV2 binds to the apical surfaces of airway epithelia and facilitates gene transfer. J Virol 2000; 74: 3852\u20133858.","journal-title":"J Virol"},{"key":"BF3302550_CR17","doi-asserted-by":"publisher","first-page":"2790","DOI":"10.1161\/01.CIR.0000096487.88897.9B","volume":"108","author":"HC Champion","year":"2003","unstructured":"Champion HC et al. Robust adenoviral and adeno-associated viral gene transfer to the in vivo murine heart: application to study of phospholamban physiology. Circulation 2003; 108: 2790\u20132797.","journal-title":"Circulation"},{"key":"BF3302550_CR18","doi-asserted-by":"publisher","first-page":"2768","DOI":"10.1128\/JVI.77.4.2768-2774.2003","volume":"77","author":"B Hauck","year":"2003","unstructured":"Hauck B, Xiao W . Characterization of tissue tropism determinants of adeno-associated virus type 1. J Virol 2003; 77: 2768\u20132774.","journal-title":"J Virol"},{"key":"BF3302550_CR19","doi-asserted-by":"crossref","first-page":"3994","DOI":"10.1128\/JVI.73.5.3994-4003.1999","volume":"73","author":"W Xiao","year":"1999","unstructured":"Xiao W et al. Gene therapy vectors based on adeno-associated virus type 1. J Virol 1999; 73: 3994\u20134003.","journal-title":"J Virol"},{"key":"BF3302550_CR20","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1038\/sj.gt.3301672","volume":"9","author":"CY Lin","year":"2002","unstructured":"Lin CY et al. Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency. Gene Therapy 2002; 9: 554\u2013563.","journal-title":"Gene Therapy"},{"key":"BF3302550_CR21","doi-asserted-by":"publisher","first-page":"3007","DOI":"10.1242\/dev.01169","volume":"131","author":"M Rucker","year":"2004","unstructured":"Rucker M et al. Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: pompe disease. Development 2004; 131: 3007\u20133019.","journal-title":"Development"},{"key":"BF3302550_CR22","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1016\/S1525-0016(03)00022-4","volume":"7","author":"B Sun","year":"2003","unstructured":"Sun B et al. Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector. Mol Ther 2003; 7: 467\u2013477.","journal-title":"Mol Ther"},{"key":"BF3302550_CR23","doi-asserted-by":"publisher","first-page":"19086","DOI":"10.1074\/jbc.273.30.19086","volume":"273","author":"N Raben","year":"1998","unstructured":"Raben N et al. Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem 1998; 273: 19086\u201319092.","journal-title":"J Biol Chem"},{"key":"BF3302550_CR24","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1006\/mthe.2002.0580","volume":"5","author":"TJ Fraites Jr","year":"2002","unstructured":"Fraites Jr TJ et al. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Mol Ther 2002; 5: 571\u2013578.","journal-title":"Mol Ther"},{"key":"BF3302550_CR25","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ymthe.2004.07.016","volume":"10","author":"MJ Blankinship","year":"2004","unstructured":"Blankinship MJ et al. Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6. Mol Ther 2004; 10: 671\u2013678.","journal-title":"Mol Ther"},{"key":"BF3302550_CR26","unstructured":"Zhu T et al. Profound cardiac and whole-body functional recovery in heart failure\/muscular dystrophy hamsters by systemic delivery of AAV8 vectors via i.v. or i.p. route. Xth Parvovirus Workshop, 2004."},{"key":"BF3302550_CR27","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ymthe.2004.10.004","volume":"11","author":"B Sun","year":"2005","unstructured":"Sun B et al. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. Mol Ther 2005; 11: 57\u201365.","journal-title":"Mol Ther"},{"key":"BF3302550_CR28","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1128\/JVI.72.1.180-190.1998","volume":"72","author":"P Loser","year":"1998","unstructured":"Loser P et al. Reactivation of the previously silenced cytomegalovirus major immediate-early promoter in the mouse liver: involvement of NFkappaB. J Virol 1998; 72: 180\u2013190.","journal-title":"J Virol"},{"key":"BF3302550_CR29","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1006\/mthe.2002.0563","volume":"5","author":"E Ding","year":"2002","unstructured":"Ding E et al. Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction. Mol Ther 2002; 5: 436\u2013446.","journal-title":"Mol Ther"},{"key":"BF3302550_CR30","doi-asserted-by":"publisher","first-page":"2039","DOI":"10.1093\/hmg\/10.19.2039","volume":"10","author":"N Raben","year":"2001","unstructured":"Raben N et al. Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Genet 2001; 10: 2039\u20132047.","journal-title":"Hum Mol Genet"},{"key":"BF3302550_CR31","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1016\/S1525-0016(02)90716-1","volume":"6","author":"N Raben","year":"2002","unstructured":"Raben N 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\u2013608.","journal-title":"Mol Ther"},{"key":"BF3302550_CR32","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.ymthe.2004.09.017","volume":"11","author":"N Raben","year":"2005","unstructured":"Raben N 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\u201356.","journal-title":"Mol Ther"},{"key":"BF3302550_CR33","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/S1046-2023(02)00220-7","volume":"28","author":"S Zolotukhin","year":"2002","unstructured":"Zolotukhin S et al. Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods 2002; 28: 158\u2013167.","journal-title":"Methods"},{"key":"BF3302550_CR34","first-page":"328","volume":"49","author":"MS Sands","year":"1999","unstructured":"Sands MS, Barker JE . Percutaneous intravenous injection in neonatal mice. Lab Anim Sci 1999; 49: 328\u2013330.","journal-title":"Lab Anim Sci"},{"key":"BF3302550_CR35","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1089\/hum.2005.16.68","volume":"16","author":"KO Cresawn","year":"2005","unstructured":"Cresawn KO et al. Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. Hum Gene Ther 2005; 16: 68\u201380.","journal-title":"Hum Gene Ther"},{"key":"BF3302550_CR36","doi-asserted-by":"publisher","first-page":"10497","DOI":"10.1128\/JVI.76.20.10497-10502.2002","volume":"76","author":"F Mingozzi","year":"2002","unstructured":"Mingozzi F et al. Improved hepatic gene transfer by using an adeno-associated virus serotype 5 vector. J Virol 2002; 76: 10497\u201310502.","journal-title":"J Virol"}],"container-title":["Gene Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/3302550.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/3302550","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/3302550.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T04:07:54Z","timestamp":1648613274000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/3302550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,26]]},"references-count":36,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2005,9,1]]}},"alternative-id":["BF3302550"],"URL":"https:\/\/doi.org\/10.1038\/sj.gt.3302550","relation":{},"ISSN":["0969-7128","1476-5462"],"issn-type":[{"value":"0969-7128","type":"print"},{"value":"1476-5462","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,26]]},"assertion":[{"value":"1 October 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2005","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 May 2005","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}