{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T16:24:34Z","timestamp":1777134274550,"version":"3.51.4"},"reference-count":98,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients.<\/jats:p>","DOI":"10.1186\/s13023-024-03373-w","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T03:07:36Z","timestamp":1730430456000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6287-5748","authenticated-orcid":false,"given":"Giancarlo","family":"Parenti","sequence":"first","affiliation":[]},{"given":"Simona","family":"Fecarotta","sequence":"additional","affiliation":[]},{"given":"Marianna","family":"Alagia","sequence":"additional","affiliation":[]},{"given":"Federica","family":"Attaianese","sequence":"additional","affiliation":[]},{"given":"Alessandra","family":"Verde","sequence":"additional","affiliation":[]},{"given":"Antonietta","family":"Tarallo","sequence":"additional","affiliation":[]},{"given":"Vincenza","family":"Gragnaniello","sequence":"additional","affiliation":[]},{"given":"Athanasia","family":"Ziagaki","sequence":"additional","affiliation":[]},{"given":"Maria Jose\u2019","family":"Guimaraes","sequence":"additional","affiliation":[]},{"given":"Patricio","family":"Aguiar","sequence":"additional","affiliation":[]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[]},{"given":"Olga","family":"Azevedo","sequence":"additional","affiliation":[]},{"given":"Maria Alice","family":"Donati","sequence":"additional","affiliation":[]},{"given":"Beata","family":"Kiec-Wilk","sequence":"additional","affiliation":[]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[]},{"given":"Nadine A. M. E.","family":"van der Beek","sequence":"additional","affiliation":[]},{"given":"Mireja","family":"Del Toro Riera","sequence":"additional","affiliation":[]},{"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[]},{"given":"Hidde","family":"Huidekoper","sequence":"additional","affiliation":[]},{"given":"Johanna M. P.","family":"van den Hout","sequence":"additional","affiliation":[]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[]},{"name":"and the MetabERN Subnetwork for Lysosomal Disorders","sequence":"additional","affiliation":[]},{"given":"Ivo","family":"Baric","sequence":"additional","affiliation":[]},{"given":"Spyros","family":"Batzios","sequence":"additional","affiliation":[]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[]},{"given":"Andrea","family":"Bordugo","sequence":"additional","affiliation":[]},{"given":"Annet M.","family":"Bosch","sequence":"additional","affiliation":[]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[]},{"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[]},{"given":"Efstathia","family":"Chronopoulou","sequence":"additional","affiliation":[]},{"given":"Maria Luz","family":"Couce-Pico","sequence":"additional","affiliation":[]},{"given":"Niklas","family":"Darin","sequence":"additional","affiliation":[]},{"given":"Anibh M.","family":"Das","sequence":"additional","affiliation":[]},{"given":"Francois G.","family":"Debray","sequence":"additional","affiliation":[]},{"given":"Patrick","family":"Deegan","sequence":"additional","affiliation":[]},{"given":"Luisa M.","family":"de Abreu Freire Diogo Matos","sequence":"additional","affiliation":[]},{"given":"Javier","family":"De Las Heras Montero","sequence":"additional","affiliation":[]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[]},{"given":"Dries","family":"Dobbelaere","sequence":"additional","affiliation":[]},{"given":"Francois","family":"Eyskens","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Ferreira","sequence":"additional","affiliation":[]},{"given":"Ana M.","family":"Gaspar","sequence":"additional","affiliation":[]},{"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[]},{"given":"Antonio Gonz\u00e1lez-Meneses","family":"L\u00f3pez","sequence":"additional","affiliation":[]},{"given":"Salvatore","family":"Grosso","sequence":"additional","affiliation":[]},{"given":"Nathalie","family":"Guffon-Fouilhoux","sequence":"additional","affiliation":[]},{"given":"Julia","family":"Hennermann","sequence":"additional","affiliation":[]},{"given":"Tarekegn G.","family":"Hiwot","sequence":"additional","affiliation":[]},{"given":"Simon","family":"Jones","sequence":"additional","affiliation":[]},{"given":"Sandra","family":"Kingma","sequence":"additional","affiliation":[]},{"given":"Veroniki","family":"Komninaka","sequence":"additional","affiliation":[]},{"given":"Elena","family":"Mart\u00edn-Hern\u00e1ndez","sequence":"additional","affiliation":[]},{"given":"Esmeralda","family":"Martins","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Miclea","sequence":"additional","affiliation":[]},{"given":"Gy\u00f6rgy","family":"Pfliegler","sequence":"additional","affiliation":[]},{"given":"Esmeralda","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Roland","sequence":"additional","affiliation":[]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[]},{"given":"Alessandro","family":"Salviati","sequence":"additional","affiliation":[]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[]},{"given":"Kurt","family":"Ullrich","sequence":"additional","affiliation":[]},{"given":"Peter M.","family":"van Hasselt","sequence":"additional","affiliation":[]},{"given":"Suresh","family":"Vijay","sequence":"additional","affiliation":[]},{"given":"Natalie","family":"Weinhold","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Witters","sequence":"additional","affiliation":[]},{"given":"Jiri","family":"Zeman","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,11,1]]},"reference":[{"issue":"Suppl 1","key":"3373_CR1","first-page":"42","volume":"47","author":"L Shea","year":"2009","unstructured":"Shea L, Raben N. Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):42\u20137.","journal-title":"Int J Clin Pharmacol Ther"},{"key":"3373_CR2","doi-asserted-by":"publisher","first-page":"103166","DOI":"10.1016\/j.ebiom.2020.103166","volume":"63","author":"R Myerowitz","year":"2021","unstructured":"Myerowitz R, Puertollano R, Raben N. Impaired autophagy: the collateral damage of lysosomal storage disorders. EBioMedicine. 2021;63:103166.","journal-title":"EBioMedicine"},{"issue":"2","key":"3373_CR3","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1080\/15548627.2015.1009779","volume":"11","author":"JA Lim","year":"2015","unstructured":"Lim JA, Li L, Kakhlon O, Myerowitz R, Raben N. Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease. Autophagy. 2015;11(2):385\u2013402.","journal-title":"Autophagy"},{"issue":"11","key":"3373_CR4","doi-asserted-by":"publisher","first-page":"e14434","DOI":"10.15252\/emmm.202114434","volume":"13","author":"A Tarallo","year":"2021","unstructured":"Tarallo A, Damiano C, Strollo S, Minopoli N, Indrieri A, Polishchuk E, et al. Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease. EMBO Mol Med. 2021;13(11):e14434. https:\/\/doi.org\/10.15252\/emmm.202114434.","journal-title":"EMBO Mol Med"},{"key":"3373_CR5","first-page":"353","volume-title":"Inherited metabolic disease in adults: a clinical guide","author":"AT van der Ploeg","year":"2016","unstructured":"van der Ploeg AT, Laforet P. Pompe disease. In: Hollak C, Lachmann R, editors. Inherited metabolic disease in adults: a clinical guide. Oxford University Press; 2016. p. 353\u20138."},{"issue":"4","key":"3373_CR6","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1089\/dna.1991.10.283","volume":"10","author":"F Martiniuk","year":"1991","unstructured":"Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Isolation and partial characterization of the structural gene for human acid alpha glucosidase. DNA Cell Biol. 1991;10(4):283\u201392.","journal-title":"DNA Cell Biol"},{"issue":"9646","key":"3373_CR7","doi-asserted-by":"publisher","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","author":"AT van der Ploeg","year":"2008","unstructured":"van der Ploeg AT, Reuser AJ. Pompe\u2019s disease. Lancet. 2008;372(9646):1342\u201353.","journal-title":"Lancet"},{"issue":"2","key":"3373_CR8","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1002\/humu.24148","volume":"42","author":"DOS de Faria","year":"2021","unstructured":"de Faria DOS, In\u2019t Groen SLM, Hoogeveen-Westerveld M, Nino MY, van der Ploeg AT, Bergsma AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: novel disease-associated variants, common sequence variants, and results from newborn screening. Hum Mutat. 2021;42(2):119\u201334.","journal-title":"Hum Mutat"},{"key":"3373_CR9","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/j.ebiom.2019.03.048","volume":"43","author":"AJ Bergsma","year":"2019","unstructured":"Bergsma AJ, van den Dorpel JJ, van den Hout HJ, van der Beek NA, Schoser B, et al. A genetic modifier of symptom onset in Pompe disease. EBioMedicine. 2019;43:553\u201361.","journal-title":"EBioMedicine"},{"issue":"9","key":"3373_CR10","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.nmd.2015.07.002","volume":"25","author":"O Musumeci","year":"2015","unstructured":"Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, et al. Homozygosity for the common GAA gene splice site mutation c.-32\u201313T>G in Pompe disease is associated with the classical adult phenotypical spectrum. Neuromuscul Disord. 2015;25(9):719\u201324.","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"3373_CR11","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/humu.10286","volume":"23","author":"MM Hermans","year":"2004","unstructured":"Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat. 2004;23(1):47\u201356.","journal-title":"Hum Mutat"},{"issue":"11","key":"3373_CR12","doi-asserted-by":"publisher","first-page":"2146","DOI":"10.1002\/humu.23878","volume":"40","author":"AJJ Reuser","year":"2019","unstructured":"Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, et al. On behalf of the Pompe registry sites. GAA variants and phenotypes among 1079 patients with Pompe disease: data from the Pompe registry. Hum Mutat. 2019;40(11):2146\u201364.","journal-title":"Hum Mutat"},{"issue":"3","key":"3373_CR13","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41431-020-00752-2","volume":"29","author":"MY Ni\u00f1o","year":"2021","unstructured":"Ni\u00f1o MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, et al. Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience. Eur J Hum Genet. 2021;29(3):434\u201346.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"3373_CR14","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1007\/s10545-014-9707-6","volume":"38","author":"CM van Gelder","year":"2015","unstructured":"van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ. Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. J Inherit Metab Dis. 2015;38(2):305\u201314.","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"3373_CR15","doi-asserted-by":"publisher","first-page":"e67052","DOI":"10.1371\/journal.pone.0067052","volume":"8","author":"SG Banugaria","year":"2013","unstructured":"Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, et al. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT. PLoS ONE. 2013;8(6):e67052. https:\/\/doi.org\/10.1371\/journal.pone.0067052.","journal-title":"PLoS ONE"},{"issue":"6","key":"3373_CR16","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1007\/s10545-018-0243-7","volume":"41","author":"C Semplicini","year":"2018","unstructured":"Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, French Pompe Study Group, et al. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. J Inherit Metab Dis. 2018;41(6):937\u201346.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"3373_CR17","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.jpeds.2013.01.031","volume":"163","author":"CR Scott","year":"2013","unstructured":"Scott CR, Elliott S, Buroker N, Thomas LI, Keutzer J, Glass M, et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr. 2013;163(2):498\u2013503.","journal-title":"J Pediatr"},{"issue":"Suppl 1","key":"3373_CR18","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1542\/peds.2016-0280C","volume":"140","author":"OA Bodamer","year":"2017","unstructured":"Bodamer OA, Scott CR, Giugliani R. Pompe Disease Newborn Screening Working Group. Newborn screening for Pompe disease. Pediatrics. 2017;140(Suppl 1):4\u201313.","journal-title":"Pediatrics"},{"issue":"13","key":"3373_CR19","doi-asserted-by":"publisher","first-page":"281","DOI":"10.21037\/atm.2019.05.47","volume":"7","author":"YH Chien","year":"2019","unstructured":"Chien YH, Hwu WL, Lee NC. Newborn screening: Taiwanese experience. Ann Transl Med. 2019;7(13):281.","journal-title":"Ann Transl Med"},{"key":"3373_CR20","doi-asserted-by":"publisher","first-page":"100929","DOI":"10.1016\/j.ymgmr.2022.100929","volume":"33","author":"V Gragnaniello","year":"2022","unstructured":"Gragnaniello V, Pijnappel PWWM, Burlina AP, In\u2019t-Groen SLM, Gueraldi D, Cazzorla C, et al. Newborn screening for Pompe disease in Italy: long-term results and future challenges. Mol Genet Metab Rep. 2022;33:100929.","journal-title":"Mol Genet Metab Rep"},{"issue":"9813","key":"3373_CR21","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","volume":"379","author":"TP Mechtler","year":"2012","unstructured":"Mechtler TP, Stary S, Metz TF, De Jes\u00fas VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335\u201341.","journal-title":"Lancet"},{"issue":"1","key":"3373_CR22","doi-asserted-by":"publisher","first-page":"e000182","DOI":"10.1136\/bmjpo-2017-000182","volume":"2","author":"N Elenga","year":"2018","unstructured":"Elenga N, Verloes A, Mrsic Y, Basurko C, Schaub R, Cuadro-Alvarez E, et al. Incidence of infantile Pompe disease in the Maroon population of French Guiana. BMJ Paediatr Open. 2018;2(1):e000182. https:\/\/doi.org\/10.1136\/bmjpo-2017-000182.","journal-title":"BMJ Paediatr Open"},{"issue":"12","key":"3373_CR23","doi-asserted-by":"publisher","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","volume":"64","author":"ML Hagemans","year":"2005","unstructured":"Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64(12):2139\u201341.","journal-title":"Neurology"},{"issue":"2","key":"3373_CR24","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","volume":"68","author":"MA Kroos","year":"2007","unstructured":"Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, et al. Broad spectrum of Pompe disease in patients with the same c.-32\u201313T->G haplotype. Neurology. 2007;68(2):110\u20135.","journal-title":"Neurology"},{"issue":"3","key":"3373_CR25","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.ymgme.2013.08.005","volume":"110","author":"N Preisler","year":"2013","unstructured":"Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013;110(3):287\u20139.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"3373_CR26","doi-asserted-by":"publisher","first-page":"31","DOI":"10.3390\/ijns6020031","volume":"6","author":"T Sawada","year":"2020","unstructured":"Sawada T, Kido J, Nakamura K. Newborn screening for Pompe disease. Int J Neonatal Screen. 2020;6(2):31.","journal-title":"Int J Neonatal Screen"},{"issue":"2","key":"3373_CR27","doi-asserted-by":"publisher","first-page":"32","DOI":"10.3390\/ijns6020032","volume":"6","author":"LD Smith","year":"2020","unstructured":"Smith LD, Bainbridge MN, Parad RB, Bhattacharjee A. Second tier molecular genetic testing in newborn screening for pompe disease: landscape and challenges. Int J Neonatal Screen. 2020;6(2):32.","journal-title":"Int J Neonatal Screen"},{"key":"3373_CR28","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1186\/1471-2431-14-203","volume":"14","author":"CG van El","year":"2014","unstructured":"van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC. Newborn screening for pompe disease? A qualitative study exploring professional views. BMC Pediatr. 2014;14:203.","journal-title":"BMC Pediatr"},{"key":"3373_CR29","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/1750-1172-7-15","volume":"7","author":"SS Weinreich","year":"2012","unstructured":"Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, et al. Public support for neonatal screening for Pompe disease, a broad-phenotype condition. Orphanet J Rare Dis. 2012;7:15.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"3373_CR30","doi-asserted-by":"publisher","first-page":"20","DOI":"10.3390\/ijns9020020","volume":"9","author":"S Singh","year":"2023","unstructured":"Singh S, Ojodu J, Kemper AR, Lam WKK, Grosse SD. Implementation of newborn screening for conditions in the United States first recommended during 2010\u20132018. Int J Neonatal Screen. 2023;9(2):20.","journal-title":"Int J Neonatal Screen"},{"issue":"2\u20133","key":"3373_CR31","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1007\/s10545-006-0265-4","volume":"29","author":"MH Gelb","year":"2006","unstructured":"Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29(2\u20133):397\u2013404.","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"3373_CR32","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.ymgme.2009.12.014","volume":"99","author":"P Labrousse","year":"2010","unstructured":"Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab. 2010;99(4):379\u201383.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"3373_CR33","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/ajmg.c.31318","volume":"160C","author":"M Kroos","year":"2012","unstructured":"Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C(1):59\u201368.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"3373_CR34","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1111\/ene.13285","volume":"24","author":"AT van der Ploeg","year":"2017","unstructured":"van der Ploeg AT, Kruijshaar ME, Toscano A, Lafor\u00eat P, Angelini C, Lachmann RH, European Pompe Consortium, et al. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017;24(6):768. https:\/\/doi.org\/10.1111\/ene.13285.","journal-title":"Eur J Neurol"},{"issue":"3","key":"3373_CR35","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","volume":"93","author":"B Winchester","year":"2008","unstructured":"Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93(3):275\u201381.","journal-title":"Mol Genet Metab"},{"issue":"7","key":"3373_CR36","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1016\/j.nmd.2018.03.011","volume":"28","author":"M Savarese","year":"2018","unstructured":"Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, et al. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. Neuromuscul Disord. 2018;28(7):586\u201391.","journal-title":"Neuromuscul Disord"},{"key":"3373_CR37","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.omtm.2019.12.016","volume":"17","author":"SLM In\u2019t Groen","year":"2020","unstructured":"In\u2019t Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, et al. Novel GAA variants and mosaicism in Pompe disease identified by extended analyses of patients with an incomplete DNA diagnosis. Mol Ther Methods Clin Dev. 2020;17:337\u201348.","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"8","key":"3373_CR38","doi-asserted-by":"publisher","first-page":"5829","DOI":"10.1002\/jcp.26365","volume":"233","author":"A Pascarella","year":"2018","unstructured":"Pascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, et al. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. J Cell Physiol. 2018;233(8):5829\u201337.","journal-title":"J Cell Physiol"},{"key":"3373_CR39","doi-asserted-by":"publisher","DOI":"10.1055\/a-1110-7335","author":"A Hahn","year":"2020","unstructured":"Hahn A, Hennermann JB, Huemer M, Kampmann C, Marquardt T, Mengel E, et al. Diagnosis and care of infants and children with Pompe disease. Klin Padiatr. 2020. https:\/\/doi.org\/10.1055\/a-1110-7335.","journal-title":"Klin Padiatr"},{"issue":"7","key":"3373_CR40","doi-asserted-by":"publisher","first-page":"446","DOI":"10.3390\/metabo11070446","volume":"11","author":"JT Saville","year":"2021","unstructured":"Saville JT, Fuller M. Experience with the urinary tetrasaccharide metabolite for Pompe disease in the diagnostic laboratory. Metabolites. 2021;11(7):446.","journal-title":"Metabolites"},{"issue":"3","key":"3373_CR41","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1038\/s41436-018-0103-8","volume":"21","author":"A Tarallo","year":"2019","unstructured":"Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, et al. microRNAs as biomarkers in Pompe disease. Genet Med. 2019;21(3):591\u2013600.","journal-title":"Genet Med"},{"issue":"7","key":"3373_CR42","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1002\/acn3.50800","volume":"6","author":"A Carrasco-Rozas","year":"2019","unstructured":"Carrasco-Rozas A, Fern\u00e1ndez-Sim\u00f3n E, Lleix\u00e0 MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, et al. Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019;6(7):1214\u201324.","journal-title":"Ann Clin Transl Neurol"},{"issue":"6","key":"3373_CR43","doi-asserted-by":"publisher","first-page":"e594","DOI":"10.1212\/WNL.0000000000207482","volume":"101","author":"MJ Mackenbach","year":"2023","unstructured":"Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, D\u00edaz-Manera J, Rizopoulos D, et al. Neurofilament light and its association with CNS involvement in patients with classic infantile Pompe disease. Neurology. 2023;101(6):e594\u2013601. https:\/\/doi.org\/10.1212\/WNL.0000000000207482.","journal-title":"Neurology"},{"issue":"1","key":"3373_CR44","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.gim.2022.10.005","volume":"25","author":"YK Hsu","year":"2023","unstructured":"Hsu YK, Chien YH, Shinn-Forng Peng S, Hwu WL, Lee WT, Lee NC, et al. Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease. Genet Med. 2023;25(1):27\u201336.","journal-title":"Genet Med"},{"issue":"1","key":"3373_CR45","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.nmd.2021.11.001","volume":"32","author":"L Harlaar","year":"2022","unstructured":"Harlaar L, Ciet P, van Tulder G, Brusse E, Timmermans RGM, Janssen WGM, et al. Diaphragmatic dysfunction in neuromuscular disease, an MRI study. Neuromuscul Disord. 2022;32(1):15\u201324.","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"3373_CR46","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.nmd.2017.11.010","volume":"28","author":"L Harlaar","year":"2018","unstructured":"Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, et al. Imaging of respiratory muscles in neuromuscular disease: a review. Neuromuscul Disord. 2018;28(3):246\u201356.","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"3373_CR47","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/dmcn.13740","volume":"60","author":"BJ Ebbink","year":"2018","unstructured":"Ebbink BJ, Poelman E, Aarsen FK, Plug I, R\u00e9gal L, Muentjes C, et al. Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. Dev Med Child Neurol. 2018;60(6):579\u201386.","journal-title":"Dev Med Child Neurol"},{"issue":"9","key":"3373_CR48","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.3390\/biom13091279","volume":"13","author":"B Labella","year":"2023","unstructured":"Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, et al. A comprehensive update on late-onset Pompe disease. Biomolecules. 2023;13(9):1279.","journal-title":"Biomolecules"},{"issue":"5","key":"3373_CR49","doi-asserted-by":"publisher","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","volume":"113","author":"JM Van den Hout","year":"2004","unstructured":"Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113(5):e448\u201357. https:\/\/doi.org\/10.1542\/peds.113.5.e448.","journal-title":"Pediatrics"},{"issue":"15","key":"3373_CR50","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","volume":"362","author":"AT van der Ploeg","year":"2010","unstructured":"van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe\u2019s disease. N Engl J Med. 2010;362(15):1396\u2013406.","journal-title":"N Engl J Med"},{"issue":"23","key":"3373_CR51","doi-asserted-by":"publisher","first-page":"2365","DOI":"10.1212\/WNL.0000000000004711","volume":"89","author":"E Kuperus","year":"2017","unstructured":"Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study. Neurology. 2017;89(23):2365\u201373.","journal-title":"Neurology"},{"issue":"7","key":"3373_CR52","doi-asserted-by":"publisher","first-page":"2482","DOI":"10.1007\/s00415-021-10409-9","volume":"268","author":"K Gutschmidt","year":"2021","unstructured":"Gutschmidt K, Musumeci O, D\u00edaz-Manera J, Chien YH, Knop KC, Wenninger S, et al. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. J Neurol. 2021;268(7):2482\u201392.","journal-title":"J Neurol"},{"issue":"1","key":"3373_CR53","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/S2352-4642(21)00308-4","volume":"6","author":"IAM Ditters","year":"2022","unstructured":"Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, European Pompe Consortium Project Group on Classic Infantile Pompe Disease, et al. European Pompe Consortium project group on classic infantile Pompe disease. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. Lancet Child Adolesc Health. 2022;6(1):28\u201337.","journal-title":"Lancet Child Adolesc Health"},{"issue":"12","key":"3373_CR54","doi-asserted-by":"publisher","first-page":"CD012993","DOI":"10.1002\/14651858.CD012993.pub2","volume":"12","author":"S Dalmia","year":"2023","unstructured":"Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, et al. Enzyme replacement therapy for late-onset Pompe disease. Cochrane Database Syst Rev. 2023;12(12):CD012993. https:\/\/doi.org\/10.1002\/14651858.CD012993.pub2.","journal-title":"Cochrane Database Syst Rev"},{"issue":"12","key":"3373_CR55","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/S1474-4422(21)00241-6","volume":"20","author":"J Diaz-Manera","year":"2021","unstructured":"Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, COMET Investigator Group, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol. 2021;20(12):1012\u201326.","journal-title":"Lancet Neurol"},{"issue":"12","key":"3373_CR56","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1016\/S1474-4422(21)00331-8","volume":"20","author":"B Schoser","year":"2021","unstructured":"Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Lafor\u00eat P, PROPEL Study Group, et al. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol. 2021;20(12):1027\u201337.","journal-title":"Lancet Neurol"},{"issue":"8","key":"3373_CR57","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1007\/s40265-023-01886-5","volume":"83","author":"HA Blair","year":"2023","unstructured":"Blair HA. Cipaglucosidase Alfa: first approval. Drugs. 2023;83(8):739\u201345.","journal-title":"Drugs"},{"issue":"6","key":"3373_CR58","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1002\/jimd.12268","volume":"43","author":"E Poelman","year":"2020","unstructured":"Poelman E, van den Dorpel JJA, Hoogeveen-Westerveld M, van den Hout JMP, van der Giessen LJ, van der Beek NAME, et al. Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients. J Inherit Metab Dis. 2020;43(6):1243\u201353.","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"3373_CR59","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1038\/s41436-019-0738-0","volume":"22","author":"AA Khan","year":"2020","unstructured":"Khan AA, Case LE, Herbert M, DeArmey S, Jones H, Crisp K, et al. Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med. 2020;22(5):898\u2013907.","journal-title":"Genet Med"},{"key":"3373_CR60","doi-asserted-by":"publisher","first-page":"100591","DOI":"10.1016\/j.ymgmr.2020.100591","volume":"23","author":"YH Chien","year":"2020","unstructured":"Chien YH, Tsai WH, Chang CL, Chiu PC, Chou YY, Tsai FJ, et al. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: evidence from real-world experiences. Mol Genet Metab Rep. 2020;23:100591.","journal-title":"Mol Genet Metab Rep"},{"issue":"15","key":"3373_CR61","doi-asserted-by":"publisher","first-page":"1803","DOI":"10.1007\/s40265-021-01600-3","volume":"81","author":"S Dhillon","year":"2021","unstructured":"Dhillon S. Avalglucosidase alfa: first approval. Drugs. 2021;81(15):1803\u20139.","journal-title":"Drugs"},{"issue":"6","key":"3373_CR62","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1001\/jamaneurol.2023.0552","volume":"80","author":"PS Kishnani","year":"2023","unstructured":"Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, COMET Investigator Group, et al. Efficacy and safety of avalglucosidase alfa in patients with late-onset pompe disease after 97 weeks: a phase 3 randomized clinical trial. JAMA Neurol. 2023;80(6):558\u201367.","journal-title":"JAMA Neurol"},{"issue":"2","key":"3373_CR63","doi-asserted-by":"publisher","first-page":"100328","DOI":"10.1016\/j.gim.2022.10.010","volume":"25","author":"PS Kishnani","year":"2023","unstructured":"Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Mini-COMET Investigators, et al. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: the 6-month primary analysis report. Genet Med. 2023;25(2):100328.","journal-title":"Genet Med"},{"issue":"4","key":"3373_CR64","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s00415-016-8219-8","volume":"264","author":"B Schoser","year":"2017","unstructured":"Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. 2017;264(4):621\u201330.","journal-title":"J Neurol"},{"key":"3373_CR65","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.jpeds.2015.10.078","volume":"169","author":"CF Yang","year":"2016","unstructured":"Yang CF, Yang CC, Liao HC, Huang LY, Chiang CC, Ho HC, et al. Very early treatment for infantile-onset pompe disease contributes to better outcomes. J Pediatr. 2016;169:174-80.e1. https:\/\/doi.org\/10.1016\/j.jpeds.2015.10.078.","journal-title":"J Pediatr"},{"key":"3373_CR66","doi-asserted-by":"crossref","unstructured":"Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, et al. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. Eur J Neurol. 2024:e16383.","DOI":"10.1111\/ene.16383"},{"issue":"1","key":"3373_CR67","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1186\/s13023-023-02715-4","volume":"18","author":"IAM Ditters","year":"2023","unstructured":"Ditters IAM, van der Beek NAME, Brusse E, van der Ploeg AT, van den Hout JMP, Huidekoper HH. Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study. Orphanet J Rare Dis. 2023;18(1):108.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"3373_CR68","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1007\/s40259-023-00609-2","volume":"37","author":"IAM Ditters","year":"2023","unstructured":"Ditters IAM, van Kooten HA, van der Beek NAME, Hardon JF, Ismailova G, Brusse E, et al. Home-based infusion of alglucosidase alfa can safely be implemented in adults with late-onset Pompe disease: lessons learned from 18,380 infusions. BioDrugs. 2023;37(5):685\u201398.","journal-title":"BioDrugs"},{"issue":"2","key":"3373_CR69","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.ymgme.2015.11.001","volume":"117","author":"PS Kishnani","year":"2016","unstructured":"Kishnani PS, Dickson PI, Muldowney L, Lee JJ, Rosenberg A, Abichandani R, et al. Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Mol Genet Metab. 2016;117(2):66\u201383.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"3373_CR70","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/s13023-019-1039-z","volume":"14","author":"E Poelman","year":"2019","unstructured":"Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, van den Hout JMP, Bredius RGM, Lankester AC, et al. Effects of immunomodulation in classic infantile Pompe patients with high antibody titers. Orphanet J Rare Dis. 2019;14(1):71.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"3373_CR71","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1038\/s41436-020-01080-y","volume":"23","author":"C Li","year":"2021","unstructured":"Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, et al. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021;23(5):845\u201355.","journal-title":"Genet Med"},{"issue":"6","key":"3373_CR72","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1177\/0883073813485819","volume":"29","author":"F Deodato","year":"2014","unstructured":"Deodato F, Ginocchio VM, Onofri A, Grutter G, Germani A, Dionisi-Vici C. Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient. J Child Neurol. 2014;29(6):850\u20134.","journal-title":"J Child Neurol"},{"key":"3373_CR73","doi-asserted-by":"publisher","first-page":"108541","DOI":"10.1016\/j.clim.2020.108541","volume":"219","author":"AK Desai","year":"2020","unstructured":"Desai AK, Rosenberg AS, Kishnani PS. The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease. Clin Immunol. 2020;219:108541.","journal-title":"Clin Immunol"},{"key":"3373_CR74","doi-asserted-by":"publisher","first-page":"1360369","DOI":"10.3389\/fimmu.2024.1360369","volume":"15","author":"AK Desai","year":"2024","unstructured":"Desai AK, Shrivastava G, Grant CL, Wang RY, Burt TD, Kishnani PS. An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation. Front Immunol. 2024;15:1360369.","journal-title":"Front Immunol"},{"issue":"1\u20132","key":"3373_CR75","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.ymgme.2011.07.004","volume":"104","author":"AH El-Gharbawy","year":"2011","unstructured":"El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, et al. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab. 2011;104(1\u20132):118\u201322.","journal-title":"Mol Genet Metab"},{"issue":"7","key":"3373_CR76","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1007\/s10072-019-03744-3","volume":"40","author":"V Gragnaniello","year":"2019","unstructured":"Gragnaniello V, Fecarotta S, Pecoraro A, Tarallo A, Catzola A, Spadaro G, et al. Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa. Neurol Sci. 2019;40(7):1453\u20135.","journal-title":"Neurol Sci"},{"issue":"2","key":"3373_CR77","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.ymgme.2019.12.008","volume":"129","author":"DD Koeberl","year":"2020","unstructured":"Koeberl DD, Case LE, Desai A, Smith EC, Walters C, Han SO, et al. Improved muscle function in a phase I\/II clinical trial of albuterol in Pompe disease. Mol Genet Metab. 2020;129(2):67\u201372.","journal-title":"Mol Genet Metab"},{"key":"3373_CR78","unstructured":"ClinicalTrial.gov. Clinical Trial Identifier NCT01942590"},{"key":"3373_CR79","unstructured":"ClinicalTrial.gov. Clinical Trial Identifier NCT01885936"},{"issue":"R1","key":"3373_CR80","doi-asserted-by":"publisher","first-page":"R61","DOI":"10.1093\/hmg\/ddr174","volume":"20","author":"BJ Byrne","year":"2011","unstructured":"Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. 2011;20(R1):R61\u20138. https:\/\/doi.org\/10.1093\/hmg\/ddr174.","journal-title":"Hum Mol Genet"},{"issue":"10","key":"3373_CR81","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1089\/hum.2019.109","volume":"30","author":"P Colella","year":"2019","unstructured":"Colella P, Mingozzi F. Gene therapy for pompe disease: the time is now. Hum Gene Ther. 2019;30(10):1245\u201362.","journal-title":"Hum Gene Ther"},{"issue":"730","key":"3373_CR82","doi-asserted-by":"publisher","first-page":"eadf1691","DOI":"10.1126\/scitranslmed.adf1691","volume":"16","author":"JC Ullman","year":"2024","unstructured":"Ullman JC, Mellem KT, Xi Y, Ramanan V, Merritt H, Choy R, et al. Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders. Sci Transl Med. 2024;16(730):eadf1691. https:\/\/doi.org\/10.1126\/scitranslmed.adf1691.","journal-title":"Sci Transl Med"},{"issue":"3","key":"3373_CR83","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/j.numecd.2020.11.028","volume":"31","author":"F Carubbi","year":"2021","unstructured":"Carubbi F, Barbato A, Burlina AB, Francini F, Mignani R, Pegoraro E, Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases, et al. Nutrition in adult patients with selected lysosomal storage diseases. Nutr Metab Cardiovasc Dis. 2021;31(3):733\u201344.","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"3373_CR84","unstructured":"Morales JA, Anilkumar AC. Glycogen Storage Disease Type II. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023. https:\/\/www.statpearls.com\/point-of-care\/22333. Accessed 16 Jul 2024"},{"issue":"1\u20132","key":"3373_CR85","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.ymgme.2012.07.014","volume":"107","author":"MM Favejee","year":"2012","unstructured":"Favejee MM, Huisstede BM, Bussmann JB, Kruijshaar ME, van der Ploeg AT. Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients. Mol Genet Metab. 2012;107(1\u20132):111\u20135.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"3373_CR86","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/j.apmr.2014.11.020","volume":"96","author":"MM Favejee","year":"2015","unstructured":"Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, et al. Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning. Arch Phys Med Rehabil. 2015;96(5):817\u201322.","journal-title":"Arch Phys Med Rehabil"},{"issue":"8","key":"3373_CR87","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1212\/01.WNL.0000158682.85052.C0","volume":"64","author":"U Mellies","year":"2005","unstructured":"Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64(8):1465\u20137.","journal-title":"Neurology"},{"issue":"10","key":"3373_CR88","doi-asserted-by":"publisher","first-page":"1735","DOI":"10.3390\/ijms17101735","volume":"17","author":"M Boentert","year":"2016","unstructured":"Boentert M, Prigent H, V\u00e1rdi K, Jones HN, Mellies U, Simonds AK, et al. Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease. Int J Mol Sci. 2016;17(10):1735.","journal-title":"Int J Mol Sci"},{"issue":"23_Suppl 2","key":"3373_CR89","first-page":"12","volume":"71","author":"B Bembi","year":"2008","unstructured":"Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, et al. Management and treatment of glycogenosis type II. Neurology. 2008;71(23_Suppl 2):12\u201336.","journal-title":"Neurology"},{"issue":"5","key":"3373_CR90","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","volume":"8","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267\u201388 (Erratum in: Genet Med. 2006;8(6):382. ACMG Work Group on Management of Pompe Disease).","journal-title":"Genet Med"},{"key":"3373_CR91","unstructured":"Leslie N, Bailey L. Pompe Disease. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132024. 2007 Aug 31 [updated 2023 Nov 2]. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1261\/"},{"issue":"2","key":"3373_CR92","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s10545-015-9889-6","volume":"39","author":"D PG\u00fcng\u00f6r","year":"2016","unstructured":"PG\u00fcng\u00f6r D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016;39(2):253\u201360.","journal-title":"J Inherit Metab Dis"},{"key":"3373_CR93","doi-asserted-by":"publisher","first-page":"100635","DOI":"10.1016\/j.ymgmr.2020.100635","volume":"25","author":"A Korlimarla","year":"2020","unstructured":"Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Behavioral, social and school functioning in children with Pompe disease. Mol Genet Metab Rep. 2020;25:100635.","journal-title":"Mol Genet Metab Rep"},{"issue":"2","key":"3373_CR94","doi-asserted-by":"publisher","first-page":"9032","DOI":"10.4081\/ejtm.2020.9032","volume":"30","author":"C Angelini","year":"2020","unstructured":"Angelini C, Siciliano G. Neuromuscular diseases and Covid-19: advices from scientific societies and early observations in Italy. Eur J Transl Myol. 2020;30(2):9032.","journal-title":"Eur J Transl Myol"},{"key":"3373_CR95","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/8904_2015_518","volume":"28","author":"U Pl\u00f6ckinger","year":"2016","unstructured":"Pl\u00f6ckinger U, Tiling N, Bosanska L, Temmesfeld-Wollbrueck B, Irlbacher K, Mezger V, et al. Multiple, successful pregnancies in Pompe disease. JIMD Rep. 2016;28:111\u20138.","journal-title":"JIMD Rep"},{"issue":"10","key":"3373_CR96","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1111\/jog.13055","volume":"42","author":"PJ Rohman","year":"2016","unstructured":"Rohman PJ, Scott E, Richfield L, Ramaswami U, Hughes DA. Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). J Obstet Gynaecol Res. 2016;42(10):1263\u201371.","journal-title":"J Obstet Gynaecol Res"},{"issue":"9","key":"3373_CR97","doi-asserted-by":"publisher","first-page":"194","DOI":"10.3390\/life10090194","volume":"10","author":"O Goker-Alpan","year":"2020","unstructured":"Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, et al. Pregnancy outcomes in late onset pompe disease. Life. 2020;10(9):194.","journal-title":"Life"},{"issue":"4","key":"3373_CR98","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.ymgme.2011.09.012","volume":"104","author":"JM de Vries","year":"2011","unstructured":"de Vries JM, Brugma JD, Ozkan L, Steegers EA, Reuser AJ, van Doorn PA, et al. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011;104(4):552\u20135.","journal-title":"Mol Genet Metab"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03373-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03373-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03373-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T04:43:25Z","timestamp":1730436205000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03373-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,1]]},"references-count":98,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3373"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03373-w","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,1]]},"assertion":[{"value":"2 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"GP has received funding for research and clinical trials and advisory fees from Sanofi-Genzyme, Amicus Therapeutics, Orchard, Synageva\/Alexion, BioMarin, Denali, Takeda. SF has received honoraria, consulting fees, speaker fees and travel reimbursement. From Sanofi, Amicus, Alexion, Chiesi. MJG has received educational and research grants from Sanofi Genzyme. PRTA received grant\/research support from Takeda, and speaker\/travel. honoraria from Takeda, Sanofi-Genzyme, BioMarin, Ultragenyx, Alexion, Amicus Therapeutics, and Chiesi.. OA has received educational\/research grants from Shire Human Genetic Therapies\/Takeda and travel\/accommodation support for conferences from Shire Human Genetic. Therapies\/Takeda, Amicus and Sanofi Genzyme. MAD received travel grants for scientific meetings and honoraria for speaking. engagements from Shire International, Sanofi Genzyme and BioMarin. MS has received honoraria, research and travel grants from Alexion, BioMarin. Pharmaceutical Inc., Chiesi, Sanofi Genzyme, Shire, Ultragenix and Sangamo. NAMEvdeB has received consulting fees and travel reimbursement from Sanofi andAmicus Therapeutics and received funding for research, clinical trials, and advisory fees from Sanofi. MDTR has received consulting fees and speaker honoraria, travel expenses, and congress fees from Biomarin, Sanofi Genzyme, Takeda,and has participated in trials sponsored by Orphazyme, Takeda, Vtesse-Sucampo Mallinckrodt). DPG has received consulting honoraria from Chiesi, Idorsia Pharmaceuticals, Sanofi and Takeda, and speaker honoraria and travel support from Sanofi and Takeda. HH reports advisory board fees, speaker fee, and a clinical trial agreement from BioMarin. JMPvdH received funding for research, clinical trials, and advisory fees from Sanofi-Genzyme, Amicus Therapeutics, BioMarin, Sarepta, Denali, Takeda and Chiesi. ATvdP has received grant for clinical trials conduction from Amicus Therapeutics andSanofi-Genzyme. MA, FA, AV, AT, VG, AZ, AH, BKW have no conflicts of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"408"}}