{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:04:18Z","timestamp":1790370258192,"version":"4.1.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T00:00:00Z","timestamp":1783123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008476","name":"University of California, Irvine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008476","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01AR079223"],"award-info":[{"award-number":["R01AR079223"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ymgme.2026.110204","type":"journal-article","created":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T15:19:14Z","timestamp":1783178354000},"page":"110204","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal gene therapy with AAV2\/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaac.1826dupA knock-in murine model"],"prefix":"10.1016","volume":"149","author":[{"given":"Shih-hsin","family":"Kan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry F.","family":"Harb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songtao","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatha","family":"Kliman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perla","family":"Andrade-Heckman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe L.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang-oh","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dwight D.","family":"Koeberl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond Y.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0005","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0010","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1042\/bj0860011","article-title":"alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe\u2019s disease)","volume":"86","author":"Hers","year":"1963","journal-title":"Biochem. J."},{"issue":"9646","key":"10.1016\/j.ymgme.2026.110204_bb0015","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe\u2019s disease","volume":"372","author":"van der Ploeg","year":"2008","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0020","first-page":"42","article-title":"Glycogen storage disease type II: clinical overview","volume":"26","author":"Di Rocco","year":"2007","journal-title":"Acta Myol."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110204_bb0025","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ymgme.2026.110204_bb0030","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1172\/JCI1722","article-title":"Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail","volume":"101","author":"Kikuchi","year":"1998","journal-title":"J. Clin. Invest."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0035","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/gim.2011.4","article-title":"Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease","volume":"14","author":"Messinger","year":"2012","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110204_bb0040","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/j.jpeds.2013.03.002","article-title":"B-cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease","volume":"163","author":"Elder","year":"2013","journal-title":"J. Pediatr."},{"issue":"13","key":"10.1016\/j.ymgme.2026.110204_bb0045","doi-asserted-by":"crossref","first-page":"288","DOI":"10.21037\/atm.2019.05.02","article-title":"Liver depot gene therapy for Pompe disease","volume":"7","author":"Kishnani","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.ymgme.2026.110204_bb0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellimm.2017.12.011","article-title":"Immunomodulatory, liver depot gene therapy for Pompe disease","volume":"342","author":"Bond","year":"2019","journal-title":"Cell. Immunol."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0055","doi-asserted-by":"crossref","first-page":"10321","DOI":"10.1038\/s41598-020-65259-8","article-title":"CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness","volume":"10","author":"Huang","year":"2020","journal-title":"Sci. Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110204_bb0060","doi-asserted-by":"crossref","first-page":"dmm052611","DOI":"10.1242\/dmm.052611","article-title":"Longitudinal characterization of Gaac.1826dupA mouse reveals cardiac, myopathic, and biochemical phenotypes of Pompe disease","volume":"19","author":"Harb","year":"2026","journal-title":"Dis. Model. Mech."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0065","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1073\/pnas.74.5.2026","article-title":"Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts","volume":"74","author":"Kaplan","year":"1977","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"3853","key":"10.1016\/j.ymgme.2026.110204_bb0070","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1126\/science.162.3853.570","article-title":"Hurler and hunter syndromes: mutual correction of the defect in cultured fibroblasts","volume":"162","author":"Fratantoni","year":"1968","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.ymgme.2026.110204_bb0075","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1016\/j.ymthe.2005.01.012","article-title":"Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter","volume":"11","author":"Sun","year":"2005","journal-title":"Mol. Ther."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0080","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1089\/hum.2011.063","article-title":"Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease","volume":"23","author":"Zhang","year":"2012","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymgme.2026.110204_bb0085","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.omtm.2016.12.010","article-title":"Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction","volume":"4","author":"Han","year":"2017","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymgme.2026.110204_bb0090","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.omtm.2019.11.020","article-title":"Comparisons of infant and adult mice reveal age effects for liver depot gene therapy in Pompe disease","volume":"17","author":"Han","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"issue":"7","key":"10.1016\/j.ymgme.2026.110204_bb0095","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1073\/pnas.96.7.3906","article-title":"Sustained correction of bleeding disorder in hemophilia B mice by gene therapy","volume":"96","author":"Wang","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0100","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/j.ymthe.2005.04.024","article-title":"Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II","volume":"12","author":"Franco","year":"2005","journal-title":"Mol. Ther."},{"issue":"18","key":"10.1016\/j.ymgme.2026.110204_bb0105","doi-asserted-by":"crossref","first-page":"11854","DOI":"10.1073\/pnas.182412299","article-title":"Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy","volume":"99","author":"Gao","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0110","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/laban0511-155","article-title":"Retro-orbital injections in mice","volume":"40","author":"Yardeni","year":"2011","journal-title":"Lab. Anim. (NY)"},{"issue":"4","key":"10.1016\/j.ymgme.2026.110204_bb0115","first-page":"291","article-title":"Quantification of histochemical staining by color deconvolution","volume":"23","author":"Ruifrok","year":"2001","journal-title":"Anal. Quant. Cytol. Histol."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110204_bb0120","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0096801","article-title":"IHC profiler: an open source plugin for the quantitative evaluation and automated scoring of immunohistochemistry images of human tissue samples","volume":"9","author":"Varghese","year":"2014","journal-title":"PloS One"},{"issue":"7","key":"10.1016\/j.ymgme.2026.110204_bb0125","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0130","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1073\/pnas.93.1.65","article-title":"High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease","volume":"93","author":"Van Hove","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0135","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymthe.2004.09.017","article-title":"Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers","volume":"11","author":"Raben","year":"2005","journal-title":"Mol. Ther."},{"issue":"7","key":"10.1016\/j.ymgme.2026.110204_bb0140","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1016\/j.ymthe.2023.02.014","article-title":"Phase I study of liver depot gene therapy in late-onset Pompe disease","volume":"31","author":"Smith","year":"2023","journal-title":"Mol. Ther."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110204_bb0145","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/blood-2002-09-2889","article-title":"Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway","volume":"102","author":"Davidoff","year":"2003","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0150","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/gt.2008.137","article-title":"Enhancing transduction of the liver by adeno-associated viral vectors","volume":"16","author":"Nathwani","year":"2009","journal-title":"Gene Ther."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2026.110204_bb0155","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ymgme.2003.08.022","article-title":"Enzyme replacement therapy in the mouse model of Pompe disease","volume":"80","author":"Raben","year":"2003","journal-title":"Mol. Genet. Metab."},{"issue":"10","key":"10.1016\/j.ymgme.2026.110204_bb0160","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1038\/s41576-025-00884-5","article-title":"Tracing the evolution of sequencing into the era of genomic medicine","volume":"26","author":"Mardis","year":"2025","journal-title":"Nat. Rev. Genet."},{"issue":"6213","key":"10.1016\/j.ymgme.2026.110204_bb0165","doi-asserted-by":"crossref","first-page":"1258096","DOI":"10.1126\/science.1258096","article-title":"Genome editing. The new frontier of genome engineering with CRISPR-Cas9","volume":"346","author":"Doudna","year":"2014","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.ymgme.2026.110204_bb0170","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1038\/s41587-020-0561-9","article-title":"Genome editing with CRISPR-Cas nucleases, base editors, transposases and prime editors","volume":"38","author":"Anzalone","year":"2020","journal-title":"Nat. Biotechnol."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0175","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/7.1.53","article-title":"Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease","volume":"7","author":"Bijvoet","year":"1998","journal-title":"Hum. Mol. Genet."},{"issue":"30","key":"10.1016\/j.ymgme.2026.110204_bb0180","doi-asserted-by":"crossref","first-page":"19086","DOI":"10.1074\/jbc.273.30.19086","article-title":"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","volume":"273","author":"Raben","year":"1998","journal-title":"J. Biol. Chem."},{"issue":"5 Pt 1","key":"10.1016\/j.ymgme.2026.110204_bb0185","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1006\/mthe.2002.0580","article-title":"Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors","volume":"5","author":"Fraites","year":"2002","journal-title":"Mol. Ther."},{"issue":"26","key":"10.1016\/j.ymgme.2026.110204_bb0190","doi-asserted-by":"crossref","first-page":"5329","DOI":"10.1182\/blood-2009-11-252874","article-title":"Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype","volume":"115","author":"van Til","year":"2010","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110204_bb0195","doi-asserted-by":"crossref","first-page":"21576","DOI":"10.1038\/s41598-022-25914-8","article-title":"CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease","volume":"12","author":"Kan","year":"2022","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymgme.2026.110204_bb0200","doi-asserted-by":"crossref","DOI":"10.1016\/j.molmet.2024.101899","article-title":"Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy","volume":"81","author":"Munoz","year":"2024","journal-title":"Mol. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110204_bb0205","doi-asserted-by":"crossref","first-page":"S104","DOI":"10.1016\/j.ymgme.2021.11.275","article-title":"Prime editing corrects the c.1826dupA mutation in infantile-onset Pompe disease","volume":"135","author":"Rha","year":"2022","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226004877?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226004877?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:40:12Z","timestamp":1790368812000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719226004877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":41,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S1096719226004877"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110204","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neonatal gene therapy with AAV2\/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaac.1826dupA knock-in murine model","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110204","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110204"}}