{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:09:26Z","timestamp":1791011366565,"version":"4.1.0"},"reference-count":62,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1097\/wco.0b013e32834a1e00","type":"journal-article","created":{"date-parts":[[2011,10,4]],"date-time":"2011-10-04T23:42:45Z","timestamp":1317771765000},"page":"443-448","source":"Crossref","is-referenced-by-count":12,"title":["Challenges in diagnosis and treatment of late-onset Pompe disease"],"prefix":"10.1097","volume":"24","author":[{"given":"Claude","family":"Desnuelle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-6-20210206","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Lysosomal storage disease 2: Pompes disease.","volume":"372","author":"van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"R2-6-20210206","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1042\/bj2720493","article-title":"Characterization of the human lysosomal alpha-glycosidase gene.","volume":"272","author":"Hoefsloot","year":"1990","journal-title":"Biochem J"},{"key":"R3-6-20210206","doi-asserted-by":"crossref","first-page":"546","DOI":"10.4161\/auto.4591","article-title":"Deconstructing Pompe disease by analyzing single muscle fibers.","volume":"3","author":"Raben","year":"2007","journal-title":"Autophagy"},{"key":"R4-6-20210206","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/mus.20482","article-title":"Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice.","volume":"33","author":"Hesselink","year":"2005","journal-title":"Muscle Nerve"},{"key":"R5-6-20210206","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/ana.20807","article-title":"Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.","volume":"59","author":"Fukuda","year":"2006","journal-title":"Ann Neurol"},{"key":"R6-6-20210206","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1093\/hmg\/ddn292","article-title":"Suppression of autophagy in skeletal muscle uncover the accumulation of ubiquinated proteins and their potential role in muscle damage in Pompe Disease.","volume":"24","author":"Raben","year":"2008","journal-title":"Hum Mol Genet"},{"issue":"Suppl 1","key":"R7-6-20210206","first-page":"S42","article-title":"Autophagy in skeletal muscle: implication for Pompe disease.","volume":"47","author":"Shea","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"key":"R8-6-20210206","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ymgme.2010.08.001","article-title":"Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implication for therapy.","volume":"101","author":"Raben","year":"2010","journal-title":"Mol Genet Metab"},{"key":"R9-6-20210206","first-page":"6","article-title":"Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-gluccosidase uptake in Pompe disease fibroblasts.","volume":"1","author":"Cardone","year":"2008","journal-title":"Pathogenics"},{"key":"R10-6-20210206","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","article-title":"A retrospective multinational, multicenter study on the natural history of infantile-onset Pompe disease.","volume":"148","author":"Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"R11-6-20210206","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"ACMG Work Group on Management of Pompe DiseasePompe disease diagnosis and management guideline.","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"issue":"Suppl 2","key":"R12-6-20210206","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1212\/WNL.0b013e31818da91e","article-title":"Diagnosis of glycogenosis type II.","volume":"71","author":"Bembi","year":"2008","journal-title":"Neurology"},{"key":"R14-6-20210206","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompes diseases in 54 Dutch patients.","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"R15-6-20210206","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of nonclassic Pompes disease: a review of 225 published cases.","volume":"252","author":"Winkel","year":"2005","journal-title":"J Neurol"},{"key":"R16-6-20210206","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/WNO.0b013e3181ce162a","article-title":"Improvement of bilateral ptosis on higher doses enzyme replacement therapy in Pompe Disease.","volume":"30","author":"Yanovitch","year":"2010","journal-title":"J Neuroophthalmol"},{"key":"R17-6-20210206","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s10545-010-9144-0","article-title":"Hearing loss in Pompe disease revisited: results from a study of 24 children.","volume":"33","author":"van Capelle","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"R18-6-20210206","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1007\/s00415-010-5618-0","article-title":"Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.","volume":"257","author":"Sacconi","year":"2010","journal-title":"J Neurol"},{"key":"R19-6-20210206","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.ymgme.2010.06.003","article-title":"Pompe diseases: dramatic improvement in gastrointestinal function following enzyme replacement therapy: a report of three later-onset patients.","volume":"101","author":"Bernstein","year":"2010","journal-title":"Mol Genet Metab"},{"key":"R20-6-20210206","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.nmd.2003.08.003","article-title":"Muscle MRI in adult-onset acid maltase deficiency.","volume":"14","author":"Pichiecchio","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"R21-6-20210206","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/(SICI)1097-4598(199803)21:3<398::AID-MUS15>3.0.CO;2-W","article-title":"Muscle compound tomography in adult-onset acid maltase deficiency.","volume":"21","author":"de Jager","year":"1998","journal-title":"Muscle Nerve"},{"key":"R22-6-20210206","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0960-8966(03)00069-5","article-title":"Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult onset acid maltase deficiency.","volume":"13","author":"Wary","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"R23-6-20210206","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1212\/01.wnl.0000299892.81127.8e","article-title":"Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.","volume":"70","author":"Nascimbeni","year":"2008","journal-title":"Neurology"},{"key":"R24-6-20210206","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.nmd.2008.04.010","article-title":"Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.","volume":"18","author":"Malicdan","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"R25-6-20210206","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","article-title":"Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.","volume":"93","author":"Winchester","year":"2008","journal-title":"Mol Genet Metab"},{"key":"R26-6-20210206","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1002\/mus.880181414","article-title":"Glycongenosis type II (acid maltase deficiency).","volume":"3","author":"Reuser","year":"1995","journal-title":"Muscle Nerve"},{"key":"R27-6-20210206","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cccn.2004.04.009","article-title":"Glycogen storage disease type II: enzymatic screening in dried blood spots on filter papers.","volume":"347","author":"Chamoles","year":"2004","journal-title":"Clin Chim Acta"},{"key":"R28-6-20210206","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s10545-009-9003-z","article-title":"Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes: possibility for newborn screening.","volume":"33","author":"Lukacs","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"R30-6-20210206","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.-3213TG haplotype.","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"R31-6-20210206","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/GIM.0b013e3181d2900e","article-title":"The angiotensin-converting enzyme insertiondeletion polymorphism modifies the clinical outcome in patients with Pompe disease.","volume":"12","author":"de Filippi","year":"2010","journal-title":"Genet Med"},{"key":"R32-6-20210206","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.spen.2008.05.005","article-title":"Current strategies in the management of lysosomal storage disease.","volume":"15","author":"Heese","year":"2008","journal-title":"Semin Pediatr Neurol"},{"issue":"Suppl 4","key":"R33-6-20210206","doi-asserted-by":"crossref","first-page":"S47","DOI":"10.1016\/j.jpeds.2009.07.006","article-title":"For the Brazilian Network for Studies in Pompe DiseaseThe Brazilian Consensus on the management of Pompe disease.","volume":"155","author":"Llerena","year":"2009","journal-title":"J Pedriatr"},{"issue":"Suppl 2","key":"R34-6-20210206","doi-asserted-by":"crossref","first-page":"S12","DOI":"10.1212\/WNL.0b013e31818da93f","article-title":"Management and treatment of glycogenosis type II.","volume":"71","author":"Bembi","year":"2008","journal-title":"Neurology"},{"key":"R37-6-20210206","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2011.02.004","article-title":"Pompe disease: design, methodology, and early finding from the Pompe registry.","volume":"103","author":"Byrne","year":"2011","journal-title":"Mol Genet Metab"},{"key":"R38-6-20210206","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1097\/01.gim.0000217789.14470.c5","article-title":"Physical therapy management of Pompe disease.","volume":"8","author":"Case","year":"2006","journal-title":"Genet Med"},{"key":"R39-6-20210206","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1111\/j.1468-1331.2010.02959.x","article-title":"Changes in the nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis.","volume":"7","author":"Ravaglia","year":"2010","journal-title":"Eur J Neurol"},{"key":"R40-6-20210206","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/mus.20665","article-title":"Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise.","volume":"35","author":"Slonin","year":"2006","journal-title":"Muscle Nerve"},{"key":"R41-6-20210206","first-page":"227","article-title":"Osteopenia in infantile Pompe disease: an unrecognized long term complication.","volume":"84","author":"Krishnamurthy","year":"2005","journal-title":"Mol Genet Metab"},{"key":"R42-6-20210206","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 USA"},{"key":"R43-6-20210206","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2008.04.009","article-title":"Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparation evaluated for the treatment of Pompe disease.","volume":"94","author":"Mc Vie-Wylie AJ, Lee","year":"2008","journal-title":"Mol Genet Metab"},{"key":"R44-6-20210206","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.nmd.2004.10.009","article-title":"Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease.","volume":"15","author":"Klinge","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"R45-6-20210206","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1007\/s00246-008-9267-3","article-title":"Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.","volume":"29","author":"Levine","year":"2008","journal-title":"Pediatr Cardiol"},{"key":"R46-6-20210206","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1177\/0883073807302598","article-title":"Long-term enzyme replacement therapy in Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells.","volume":"22","author":"Rossi","year":"2007","journal-title":"J Child Neurol"},{"key":"R47-6-20210206","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease.","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"R48-6-20210206","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2009.08.003","article-title":"Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.","volume":"99","author":"Kishnani","year":"2010","journal-title":"Mol Genet Metab"},{"key":"R49-6-20210206","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1203\/01.pdr.0000233014.84318.4e","article-title":"Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.","volume":"60","author":"Chien","year":"2006","journal-title":"Pediatr Res"},{"key":"R50-6-20210206","first-page":"91","article-title":"A randomized study of alglucosidase alfa in late-onset Pompes disease.","volume":"257","author":"van der Ploeg","year":"2010","journal-title":"N Engl J Med"},{"key":"R51-6-20210206","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00415-009-5275-3","article-title":"Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.","volume":"257","author":"Stothotte","year":"2010","journal-title":"J Neurol"},{"key":"R52-6-20210206","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s10545-010-9201-8","article-title":"Long-term observational, nonrandomized study of enzyme replacement therapy in late-onset glycogenesis type II.","volume":"33","author":"Bembi","year":"2010","journal-title":"J Inherit Dis"},{"key":"R53-6-20210206","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.nmd.2010.07.277","article-title":"Effect of therapy in juvenile patients with Pompe disease: a three year open-label study.","volume":"20","author":"van Capelle","year":"2010","journal-title":"Neuromusc Disord"},{"key":"R54-6-20210206","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1007\/s10545-010-9204-5","article-title":"Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenesis: temporal and spatial pattern of mass vs. strength response.","volume":"33","author":"Ravaglia","year":"2010","journal-title":"J Inherit Metab"},{"key":"R55-6-20210206","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"},{"key":"R56-6-20210206","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre and posttreatment pathology after enzyme replacement therapy for Pompe disease.","volume":"86","author":"Thurberg","year":"2006","journal-title":"Lab Invest"},{"key":"R57-6-20210206","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.coph.2010.02.006","article-title":"Metabolic myopathies: the challenge of new treatments.","volume":"10","author":"Angelini","year":"2010","journal-title":"Curr Opin Pharmacol"},{"key":"R58-6-20210206","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1038\/mt.2009.53","article-title":"The pharmacological chaperone N-butyldeoxynojirimycine enhances enzyme replacement therapy in Pompe disease fibroblasts.","volume":"17","author":"Porto","year":"2009","journal-title":"Mol Ther"},{"key":"R59-6-20210206","doi-asserted-by":"crossref","first-page":"902","DOI":"10.2174\/138920111795542606","article-title":"Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.","volume":"12","author":"Parenti","year":"2011","journal-title":"Curr Pharm Biotechnol"},{"key":"R60-6-20210206","doi-asserted-by":"crossref","first-page":"S62","DOI":"10.1016\/S0149-2918(10)80004-9","article-title":"Genetic suppression of autophagy dramatically enhances enzyme replacement therapy in murine Pompe disease.","volume":"32","author":"Raben","year":"2010","journal-title":"Clin Ther"},{"key":"R61-6-20210206","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/j.1651-2227.2008.00656.x","article-title":"Substrate reduction therapy.","volume":"97","author":"Platt","year":"2008","journal-title":"Acta Paediatr Suppl"},{"key":"R62-6-20210206","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1093\/hmg\/ddp535","article-title":"Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.","volume":"19","author":"Douillard-Guilloux","year":"2010","journal-title":"Hum Mol Genet"},{"key":"R63-6-20210206","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/mt.2008.133","article-title":"Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.","volume":"16","author":"Sun","year":"2008","journal-title":"Mol Ther"},{"key":"R64-6-20210206","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":"26","author":"van Til","year":"2010","journal-title":"Blood"},{"key":"R65-6-20210206","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/mt.2009.305","article-title":"Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease.","volume":"18","author":"Mah","year":"2010","journal-title":"Mol Ther"},{"key":"R66-6-20210206","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s10545-010-9209-0","article-title":"CRIM-negative infantile Pompe disease: 42-month treatment outcome.","volume":"33","author":"Rohrbach","year":"2010","journal-title":"J Inherit Metab Dis"}],"container-title":["Current Opinion in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/WCO.0b013e32834a1e00","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T08:11:11Z","timestamp":1620979871000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019052-201110000-00006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":62,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.1097\/wco.0b013e32834a1e00","relation":{},"ISSN":["1350-7540"],"issn-type":[{"value":"1350-7540","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}