{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T21:50:19Z","timestamp":1767909019607,"version":"3.49.0"},"reference-count":84,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Pompe disease, also denoted as acid maltase or acid \u03b1-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing.<\/jats:p><jats:p><jats:bold>Objective:<\/jats:bold> This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.<\/jats:p>","DOI":"10.3389\/fneur.2021.739931","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T04:46:30Z","timestamp":1632199590000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":16,"title":["Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus"],"prefix":"10.3389","volume":"12","author":[{"given":"Farzad","family":"Fatehi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzieh","family":"Babaee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behnaz","family":"Ansari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehran","family":"Beiraghi Toosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Boostani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peyman","family":"Eshraghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atefeh","family":"Fakharian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahra","family":"Hadipour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahram","family":"Haghi Ashtiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossein","family":"Moravej","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Payam","family":"Sarraf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keyhan","family":"Sayadpour Zanjani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,21]]},"reference":[{"key":"B1","first-page":"304","article-title":"Over idiopathische hypertrophie van het hart","volume":"76","author":"Pompe","year":"1932","journal-title":"Ned Tijdschr Geneeskd."},{"key":"B2","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1042\/bj0860011","article-title":"\u03b1-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)","volume":"86","author":"Hers","year":"1963","journal-title":"Biochem J."},{"key":"B3","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1161\/CIRCGENETICS.115.001322","article-title":"Elevated plasma cardiac troponin t levels caused by skeletal muscle damage in Pompe disease","volume":"9","author":"Wens","year":"2016","journal-title":"Circ Cardiovasc Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5812\/ijp.4473","article-title":"The outcome of infantile onset Pompe disease in south of Iran","volume":"26","author":"Moravej","year":"2016","journal-title":"Iran J Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1002\/mus.25413","article-title":"Late-onset pompe disease in Iran: a clinical and genetic report","volume":"55","author":"Nazari","year":"2017","journal-title":"Muscle Nerve."},{"key":"B6","first-page":"7","article-title":"Infantile-onset Pompe disease","volume":"6","author":"Ashrafi","year":"2012","journal-title":"Iran J Child Neurol."},{"key":"B7","doi-asserted-by":"publisher","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":"B8","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.pediatrneurol.2020.02.006","article-title":"Dilated cerebral arteriopathy in classical Pompe disease: a novel finding","volume":"108","author":"Viamonte","year":"2020","journal-title":"Pediatr Neurol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1007\/s13311-018-0655-y","article-title":"Pompe disease: from basic science to therapy","volume":"15","author":"Kohler","year":"2018","journal-title":"Neurotherapeutics."},{"key":"B10","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.resp.2013.06.007","article-title":"The respiratory neuromuscular system in Pompe disease","volume":"189","author":"Fuller","year":"2013","journal-title":"Respir Physiol Neurobiol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgmr.2018.05.002","article-title":"Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy","volume":"16","author":"Landis","year":"2018","journal-title":"Mol Genet Metab Rep."},{"key":"B12","doi-asserted-by":"publisher","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."},{"key":"B13","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.ymgme.2021.05.005","article-title":"Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired\/hereditary myopathy","volume":"133","author":"Jones","year":"2021","journal-title":"Mol Genet Metab."},{"key":"B14","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1007\/s00415-012-6636-x","article-title":"Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review","volume":"260","author":"Toscano","year":"2013","journal-title":"J Neurol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1136\/jnnp-2014-310164","article-title":"LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population","volume":"87","author":"Musumeci","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B16","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain J Neurol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/1750-1172-7-88","article-title":"Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study","volume":"7","author":"van der Beek","year":"2012","journal-title":"Orphanet J Rare Dis."},{"key":"B18","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1016\/j.ymgme.2012.07.024","article-title":"Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients","volume":"107","author":"Musumeci","year":"2012","journal-title":"Mol Genet Metab."},{"key":"B19","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1111\/ene.13835","article-title":"Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis","volume":"26","author":"Musumeci","year":"2019","journal-title":"Eur J Neurol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"196","DOI":"10.12659\/AJCR.893309","article-title":"Small-fiber neuropathy in Pompe disease: first reported cases and prospective screening of a clinic cohort","volume":"16","author":"Hobson-Webb","year":"2015","journal-title":"Am J Case Rep."},{"key":"B21","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.nmd.2009.11.006","article-title":"Rigid spine syndrome revealing late-onset Pompe disease","volume":"20","author":"Lafor\u00eat","year":"2010","journal-title":"Neuromuscul Disord NMD."},{"key":"B22","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1111\/j.1365-2796.2008.01966.x","article-title":"Cardiac involvement in adults with Pompe disease","volume":"264","author":"Soliman","year":"2008","journal-title":"J Intern Med."},{"key":"B23","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/j.ymgme.2010.06.003","article-title":"Pompe disease: 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":"B24","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.ymgmr.2016.06.002","article-title":"Hypothyroidism in late-onset Pompe disease","volume":"8","author":"Schneider","year":"2016","journal-title":"Mol Genet Metab Rep."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.21037\/atm.2019.07.24","article-title":"Multisystem late onset Pompe disease (LOPD): an update on clinical aspects","volume":"7","author":"Toscano","year":"2019","journal-title":"Ann Transl Med."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgmr.2020.100583","article-title":"Urine glucose tetrasaccharide: a good biomarker for glycogenoses type II and III? A study of the French cohort","volume":"23","author":"Piraud","year":"2020","journal-title":"Mol Genet Metab Rep."},{"key":"B27","doi-asserted-by":"publisher","first-page":"S14","DOI":"10.1542\/peds.2016-0280D","article-title":"Pompe disease newborn screening working group. the initial evaluation of patients after positive newborn screening: recommended algorithms leading to a confirmed diagnosis of Pompe disease","volume":"140","author":"Burton","year":"2017","journal-title":"Pediatrics."},{"key":"B28","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/mus.21393","article-title":"Diagnostic criteria for late-onset (childhood and adult) Pompe disease","volume":"40","year":"2009","journal-title":"Muscle Nerve."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2312","DOI":"10.1016\/j.clinph.2011.04.016","article-title":"The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings","volume":"122","author":"Hobson-Webb","year":"2011","journal-title":"Clin Neurophysiol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/ane.13133","article-title":"Screening for late-onset Pompe disease in Poland","volume":"140","author":"Jastrzebska","year":"2019","journal-title":"Acta Neurol Scand."},{"key":"B31","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1016\/j.nmd.2015.04.008","article-title":"Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort","volume":"25","author":"Guti\u00e9rrez-Rivas","year":"2015","journal-title":"Neuromuscul Disord NMD."},{"key":"B32","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1016\/j.nmd.2016.09.001","article-title":"The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: a multicenter study","volume":"26","author":"\u00dcnver","year":"2016","journal-title":"Neuromuscul Disord."},{"key":"B33","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","article-title":"Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness","volume":"87","author":"Lukacs","year":"2016","journal-title":"Neurology."},{"key":"B34","doi-asserted-by":"publisher","first-page":"5829","DOI":"10.1002\/jcp.26365","article-title":"Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy","volume":"233","author":"Pascarella","year":"2018","journal-title":"J Cell Physiol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"880","DOI":"10.3389\/fneur.2018.00880","article-title":"Vacuolated PAS-positive lymphocytes on blood smear: an easy screening tool and a possible biomarker for monitoring therapeutic responses in late onset Pompe disease (LOPD)","volume":"9","author":"Parisi","year":"2018","journal-title":"Front Neurol."},{"key":"B36","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.nmd.2011.06.748","article-title":"Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns","volume":"21","author":"Carlier","year":"2011","journal-title":"Neuromuscul Disord NMD."},{"key":"B37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-018-29170-7","article-title":"Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study","volume":"8","author":"Figueroa-Bonaparte","year":"2018","journal-title":"Sci Rep."},{"key":"B38","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/jmd2.12174","article-title":"Quantitative whole-body magnetic resonance imaging in children with Pompe disease: clinical tools to evaluate severity of muscle disease","volume":"57","author":"Fernandes","year":"2021","journal-title":"JIMD Rep."},{"key":"B39","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/2051-5960-2-2","article-title":"The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients","volume":"2","author":"Feeney","year":"2014","journal-title":"Acta Neuropathol Commun."},{"key":"B40","first-page":"179","article-title":"Genetic counseling in Pompe disease","volume":"30","author":"Taglia","year":"2011","journal-title":"Acta Myol."},{"key":"B41","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1177\/0883073811420295","article-title":"Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy","volume":"27","author":"Cho","year":"2012","journal-title":"J Child Neurol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"278","DOI":"10.21037\/atm.2019.04.13","article-title":"Molecular genetics of Pompe disease: a comprehensive overview","volume":"7","author":"Peruzzo","year":"2019","journal-title":"Ann Transl Med."},{"key":"B43","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s13023-020-01353-4","article-title":"Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures","volume":"15","author":"Vanherpe","year":"2020","journal-title":"Orphanet J Rare Dis."},{"key":"B44","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1016\/j.nmd.2018.03.011","article-title":"Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease","volume":"28","author":"Savarese","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"B45","doi-asserted-by":"publisher","first-page":"S46","DOI":"10.1542\/peds.2016-0280F","article-title":"The role of genetic counseling in Pompe disease after patients are identified through newborn screening","volume":"140","author":"Atherton","year":"2017","journal-title":"Pediatrics."},{"key":"B46","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-016-0390-6","article-title":"diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing","volume":"11","author":"L\u00e9vesque","year":"2016","journal-title":"Orphanet J Rare Dis."},{"key":"B47","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/j.nmd.2016.09.004","article-title":"Clinical manifestation of late onset Pompe disease patients in Hong Kong","volume":"26","author":"Chu","year":"2016","journal-title":"Neuromuscul Disord NMD."},{"key":"B48","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1007\/s10072-020-04316-6","article-title":"Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease","volume":"41","author":"Ruggeri","year":"2020","journal-title":"Neurol Sci"},{"key":"B49","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1002\/jimd.12272","article-title":"Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry","volume":"43","author":"Semplicini","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"B50","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1002\/mus.23340","article-title":"New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy","volume":"45","author":"Angelini","year":"2012","journal-title":"Muscle Nerve."},{"key":"B51","doi-asserted-by":"publisher","first-page":"31","DOI":"10.4081\/ejtm.2021.9798","article-title":"Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium","author":"Angelini","year":"2021","journal-title":"Eur J Transl Myol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"5","DOI":"10.21037\/atm.2017.s028","article-title":"AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute","author":"Yang","year":"2017","journal-title":"Ann Transl Med."},{"key":"B53","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1002\/jimd.12268","article-title":"Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients","volume":"43","author":"Poelman","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"B54","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1038\/s41436-019-0738-0","article-title":"Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature","volume":"22","author":"Khan","year":"2020","journal-title":"Genet Med."},{"key":"B55","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/j.nmd.2014.12.004","article-title":"Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease","volume":"25","author":"Case","year":"2015","journal-title":"Neuromuscul Disord NMD."},{"key":"B56","doi-asserted-by":"publisher","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."},{"key":"B57","doi-asserted-by":"publisher","first-page":"100475","DOI":"10.1016\/j.ymgmr.2019.100475","article-title":"Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy","volume":"20","author":"Desai","year":"2019","journal-title":"Mol Genet Metab Rep."},{"key":"B58","doi-asserted-by":"publisher","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":"B59","doi-asserted-by":"publisher","first-page":"1","DOI":"10.21037\/atm.2019.05.27","article-title":"Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review","volume":"7","author":"Desai","year":"2019","journal-title":"Ann Transl Med."},{"key":"B60","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe's disease","volume":"362","author":"van der Ploeg","year":"2010","journal-title":"N Engl J Med."},{"key":"B61","doi-asserted-by":"publisher","first-page":"2365","DOI":"10.1212\/WNL.0000000000004711","article-title":"Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study","volume":"89","author":"Kuperus","year":"2017","journal-title":"Neurology."},{"key":"B62","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1186\/1750-1172-8-49","article-title":"Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study","volume":"8","author":"G\u00fcng\u00f6r","year":"2013","journal-title":"Orphanet J Rare Dis."},{"key":"B63","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10526-5","article-title":"Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis","author":"Sarah","year":"2021","journal-title":"J Neurol"},{"key":"B64","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/1750-1172-7-73","article-title":"Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study","volume":"7","author":"de Vries","year":"2012","journal-title":"Orphanet J Rare Dis."},{"key":"B65","doi-asserted-by":"publisher","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."},{"key":"B66","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1186\/s12883-015-0412-3","article-title":"Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group","volume":"15","author":"Al Jasmi","year":"2015","journal-title":"BMC Neurol."},{"key":"B67","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1111\/ene.13285","article-title":"European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience","volume":"24","author":"van der Ploeg","year":"2017","journal-title":"Eur J Neurol."},{"key":"B68","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.nmd.2019.11.007","article-title":"Discontinuation of enzyme replacement therapy in adults with Pompe disease: evaluating the European POmpe Consortium stop criteria","volume":"30","author":"van Kooten","year":"2020","journal-title":"Neuromuscul Disord NMD."},{"key":"B69","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1089\/hum.2019.109","article-title":"Gene therapy for Pompe disease: the time is now","volume":"30","author":"Colella","year":"2019","journal-title":"Hum Gene Ther."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1259","DOI":"10.1007\/s12035-019-01820-5","article-title":"Molecular approaches for the treatment of Pompe disease","volume":"57","author":"Bellotti","year":"2020","journal-title":"Mol Neurobiol."},{"key":"B71","doi-asserted-by":"publisher","first-page":"7983","DOI":"10.4081\/ni.2019.7983","article-title":"Rehabilitation management of Pompe disease, from childhood trough adulthood: a systematic review of the literature","volume":"11","author":"Corrado","year":"2019","journal-title":"Neurol Int."},{"key":"B72","first-page":"241","article-title":"The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence","volume":"37","author":"Iolascon","year":"2018","journal-title":"Acta Myol Myopathies Cardiomyopathies."},{"key":"B73","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1016\/j.rmed.2013.03.004","article-title":"The role of respiratory management of Pompe disease","volume":"107","author":"Ambrosino","year":"2013","journal-title":"Respir Med."},{"key":"B74","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1590\/0004-282X20150194","article-title":"Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease","volume":"74","author":"Llerena Junior","year":"2016","journal-title":"Arq Neuropsiquiatr."},{"key":"B75","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/j.apmr.2014.11.020","article-title":"Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning","volume":"96","author":"Favejee","year":"2015","journal-title":"Arch Phys Med Rehabil."},{"key":"B76","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1186\/s13023-015-0303-0","article-title":"Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program","volume":"10","author":"van den Berg","year":"2015","journal-title":"Orphanet J Rare Dis."},{"key":"B77","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1002\/mus.22329","article-title":"Consensus treatment recommendations for late-onset Pompe disease","volume":"45","author":"Cupler","year":"2012","journal-title":"Muscle Nerve."},{"key":"B78","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.bone.2010.06.021","article-title":"Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density","volume":"47","author":"van den Berg","year":"2010","journal-title":"Bone."},{"key":"B79","doi-asserted-by":"publisher","first-page":"S35","DOI":"10.1016\/j.jpeds.2004.01.053","article-title":"Pompe disease in infants and children","volume":"144","author":"Kishnani","year":"2004","journal-title":"J Pediatr."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/ijms17101735","article-title":"Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease","volume":"17","author":"Boentert","year":"2016","journal-title":"Int J Mol Sci."},{"key":"B81","doi-asserted-by":"publisher","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 therapy","volume":"35","author":"Slonim","year":"2007","journal-title":"Muscle Nerve."},{"key":"B82","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1186\/s13023-021-01817-1","article-title":"Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy","volume":"16","author":"Hsueh","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"B83","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1210\/jc.2014-2763","article-title":"Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease","volume":"100","author":"Bertoldo","year":"2015","journal-title":"J Clin Endocrinol Metab."},{"key":"B84","doi-asserted-by":"publisher","first-page":"3395","DOI":"10.3390\/jcm10153395","article-title":"New insights into gastrointestinal involvement in late-onset Pompe disease: lessons learned from bench and bedside","volume":"10","author":"Korlimarla","year":"2021","journal-title":"J Clin Med."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.739931\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T04:46:37Z","timestamp":1632199597000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.739931\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,21]]},"references-count":84,"alternative-id":["10.3389\/fneur.2021.739931"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2021.739931","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,21]]},"article-number":"739931"}}