{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T10:49:07Z","timestamp":1772621347938,"version":"3.50.1"},"reference-count":36,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Pompe disease is a rare lysosomal storage disorder with a wide clinical spectrum ranging from infantile-onset Pompe disease (IOPD) with early severe cardiomyopathy to late-onset Pompe disease (LOPD) with progressive muscle weakness. This study aimed to evaluate clinical features, genotype\u2013phenotype correlations, treatment outcomes, and significant events in a real-life pediatric cohort of Pompe patients.<\/jats:p>\n                  <jats:p>We retrospectively analyzed 30 pediatric patients diagnosed with Pompe disease (27 IOPD, 3 LOPD). Demographic, clinical, biochemical, genetic, and radiologic data were collected. Recurrent clinical events were assessed using the Andersen-Gill extension of the Cox model to evaluate the effect of enzyme replacement therapy (ERT).<\/jats:p>\n                  <jats:p>The median age at diagnosis was 5 (range 20 days to 80 months) months, and consanguinity was present in 83% of cases. IOPD cases predominantly showed hypotonia and cardiac involvement, whereas LOPD cases were asymptomatic or mildly symptomatic, with delayed motor development and increased CK levels. Novel GAA mutations were identified in seven patients. ERT was administered to 24 IOPD patients, leading to improved cardiac function and prolonged survival. Event incidence was significantly lower in the ERT group (HR\u2009=\u20090.06, p\u2009&lt;\u20090.005), despite a longer follow-up. However, 56% of patients\u2014all with IOPD\u2014died during follow-up. Non-muscular findings such as neurogenic bladder in 6.6% (2\/30), sensorineural hearing loss in 13.3% (4\/30), and white matter abnormalities in 40.9% (9\/21) were also documented.<\/jats:p>\n                  <jats:p>This real-life evidence reinforces the central role of early, individualized ERT and comprehensive multidisciplinary care in altering the natural course of Pompe disease.<\/jats:p>","DOI":"10.1055\/a-2777-2932","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:02:28Z","timestamp":1767787348000},"page":"121-130","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data"],"prefix":"10.1055","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5597-9290","authenticated-orcid":false,"given":"Fehime","family":"Erdem Karap\u0131nar","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2564-7420","authenticated-orcid":false,"given":"Havva","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merve","family":"Yolda\u015f \u00c7elik","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015fe","family":"Y\u00fcksel Yanbolu","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cenk","family":"Eraslan","sequence":"additional","affiliation":[{"name":"Department Radiology, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asude","family":"Durmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u00e7a","family":"Aykut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Canda","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z\u00fclal","family":"\u00dclger Tutar","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sema Kalkan","family":"U\u00e7ar","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ert\u00fcrk","family":"Levent","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eser","family":"Y\u0131ld\u0131r\u0131m S\u00f6zmen","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmut","family":"\u00c7oker","sequence":"additional","affiliation":[{"name":"Division of Inborn Error of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1146\/annurev-genom-090711-163739","article-title":"Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges","volume":"13","author":"R J Desnick","year":"2012","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/jimd.12560","article-title":"Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism","volume":"46","author":"R Canibano-Fraile","year":"2023","journal-title":"J Inherit Metab Dis"},{"issue":"05","key":"ref3","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":"P S Kishnani","year":"2006","journal-title":"J Pediatr"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"573","DOI":"10.3390\/biom14050573","article-title":"Failure of autophagy in Pompe disease","volume":"14","author":"H Do","year":"2024","journal-title":"Biomolecules"},{"issue":"9646","key":"ref5","first-page":"1342","article-title":"Lymosomal storage disease 2\u2014Pompe's disease","volume":"372","author":"A van der Ploeg","year":"2008","journal-title":"Lancet (UK)"},{"key":"ref6","first-page":"100929","article-title":"Newborn screening for Pompe disease in Italy: long-term results and future challenges","volume":"33","author":"V Gragnaniello","year":"2022","journal-title":"Mol Genet Metab Rep"},{"issue":"06","key":"ref7","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.arcped.2022.05.003","article-title":"Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey","volume":"29","author":"S Kilavuz","year":"2022","journal-title":"Arch Pediatr"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"108559","DOI":"10.1016\/j.ymgme.2024.108559","article-title":"Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease","volume":"143","author":"P S Kishnani","year":"2024","journal-title":"Mol Genet Metab"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1186\/s13023-023-02981-2","article-title":"Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry","volume":"18","author":"P S Kishnani","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"05","key":"ref10","doi-asserted-by":"crossref","first-page":"e200181","DOI":"10.1212\/CPJ.0000000000200181","article-title":"Measurement properties of 2 novel PROs, the Pompe disease symptom scale and Pompe disease impact scale, in the COMET study","volume":"13","author":"M M Dimachkie","year":"2023","journal-title":"Neurol Clin Pract"},{"issue":"15","key":"ref11","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe's disease","volume":"362","author":"A T van der Ploeg","year":"2010","journal-title":"N Engl J Med"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.2147\/TCRM.S334232","article-title":"Therapeutic options for the management of Pompe disease: current challenges and clinical evidence in therapeutics and clinical risk management","volume":"18","author":"C Bolano-Diaz","year":"2022","journal-title":"Ther Clin Risk Manag"},{"issue":"03","key":"ref13","doi-asserted-by":"crossref","first-page":"108590","DOI":"10.1016\/j.ymgme.2024.108590","article-title":"Pompe disease: unmet needs and emerging therapies","volume":"143","author":"K A George","year":"2024","journal-title":"Mol Genet Metab"},{"issue":"05","key":"ref14","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1002\/nau.24950","article-title":"Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: a single-centre cross-sectional study","volume":"41","author":"Y K Chen","year":"2022","journal-title":"Neurourol Urodyn"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3390\/genes11020135","article-title":"Novel mutations found in individuals with adult-onset Pompe disease","volume":"11","author":"M T Aung-Htut","year":"2020","journal-title":"Genes (Basel)"},{"issue":"01","key":"ref16","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-018-0771-0","article-title":"Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy","volume":"13","author":"R Parini","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"1336599","DOI":"10.3389\/fimmu.2024.1336599","article-title":"Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy","volume":"15","author":"H-A Chen","year":"2024","journal-title":"Front Immunol"},{"issue":"02","key":"ref18","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ymgme.2017.10.005","article-title":"Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy","volume":"123","author":"P T McIntosh","year":"2018","journal-title":"Mol Genet Metab"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"569153","DOI":"10.3389\/fneur.2020.569153","article-title":"Multicentric retrospective evaluation of five classic infantile Pompe disease subjects under enzyme replacement therapy with early infratentorial involvement","volume":"11","author":"M Paoletti","year":"2020","journal-title":"Front Neurol"},{"issue":"01","key":"ref20","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.gim.2022.10.005","article-title":"Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease","volume":"25","author":"Y-K Hsu","year":"2023","journal-title":"Genet Med"},{"issue":"01","key":"ref21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3892\/etm.2015.2862","article-title":"Infantile Pompe disease: a case report and review of the Chinese literature","volume":"11","author":"Y Liu","year":"2016","journal-title":"Exp Ther Med"},{"issue":"01","key":"ref22","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1186\/s13023-024-03373-w","article-title":"The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)","volume":"19","author":"G Parenti","year":"2024","journal-title":"Orphanet J Rare Dis"},{"issue":"04","key":"ref23","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1017\/cjn.2016.37","article-title":"Pompe disease: diagnosis and management. Evidence-based guidelines from a Canadian expert panel","volume":"43","author":"M Tarnopolsky","year":"2016","journal-title":"Can J Neurol Sci"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"316","DOI":"10.3389\/fcell.2019.00316","article-title":"A liver model of infantile-onset Pompe disease using patient-specific induced pluripotent stem cells","volume":"7","author":"T Yoshida","year":"2019","journal-title":"Front Cell Dev Biol"},{"issue":"04","key":"ref25","first-page":"208","article-title":"Prevalence of late-onset Pompe disease in Portuguese patients with diaphragmatic paralysis\u2014DIPPER study","volume":"23","author":"M J Guimar\u00e3es","year":"2017","journal-title":"Rev Port Pneumol (2006)"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"123021","DOI":"10.1016\/j.jns.2024.123021","article-title":"Diaphragm weakness in late-onset Pompe disease: a complex interplay between lower motor neuron and muscle fibre degeneration","volume":"460","author":"M Oliveira Santos","year":"2024","journal-title":"J Neurol Sci"},{"issue":"03","key":"ref27","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.ymgme.2013.06.023","article-title":"Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function","volume":"110","author":"M Gaeta","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"07","key":"ref28","doi-asserted-by":"crossref","first-page":"e0158912","DOI":"10.1371\/journal.pone.0158912","article-title":"Quantification of diaphragm mechanics in Pompe disease using dynamic 3D MRI","volume":"11","author":"K Mogalle","year":"2016","journal-title":"PLoS One"},{"issue":"03","key":"ref29","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1203\/PDR.0b013e3181b24e94","article-title":"Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease","volume":"66","author":"P S Kishnani","year":"2009","journal-title":"Pediatr Res"},{"issue":"01","key":"ref30","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3233\/JND-230164","article-title":"Long-term outcome of infantile onset Pompe disease patients treated with enzyme replacement therapy\u2014data from a German-Austrian cohort","volume":"11","author":"C Pfrimmer","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"03","key":"ref31","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s40272-024-00627-9","article-title":"Advances in immune tolerance induction in enzyme replacement therapy","volume":"26","author":"A \u0130nci","year":"2024","journal-title":"Paediatr Drugs"},{"issue":"01","key":"ref32","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1186\/s13023-025-03981-0","article-title":"Enzyme replacement therapy for the treatment of late onset Pompe disease: a systematic review and network meta-analysis","volume":"20","author":"M Corbett","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"ref33","volume-title":"Pompe Disease Synonyms: Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, Glycogen Storage Disease Type II (GSD II), Glycogenosis Type II","author":"N Leslie","year":"2019"},{"issue":"01","key":"ref34","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S2352-4642(21)00308-4","article-title":"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","volume":"6","author":"I AM Ditters","year":"2022","journal-title":"Lancet Child Adolesc Health"},{"key":"ref35","first-page":"1","article-title":"Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy","volume":"16","author":"J L Landis","year":"2018","journal-title":"Mol Genet Metab Rep"},{"issue":"04","key":"ref36","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1159\/000528343","article-title":"Long-term experience with anaphylaxis and desensitization to alglucosidase alfa in Pompe disease","volume":"184","author":"H I Ertoy Karagol","year":"2023","journal-title":"Int Arch Allergy Immunol"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2777-2932.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T05:43:02Z","timestamp":1772602982000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2777-2932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,26]]},"references-count":36,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2026,3,3]]},"published-print":{"date-parts":[[2026,4]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2777-2932","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12,26]]},"published":{"date-parts":[[2025,12,26]]}}}