{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:17:38Z","timestamp":1784099858313,"version":"3.55.0"},"reference-count":78,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T00:00:00Z","timestamp":1737072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In the infantile form, the weakness is often severe and leads to motor difficulties from the first few months of life. In adult patients, the progression is slower but can still lead to significant loss of mobility. The current inherent difficulties of the disease lie in both early diagnosis and the use of biomarkers. Given that this is a multifactorial disease, a number of components may exert an influence on the disease process; from the degree of pre-ERT (enzyme replacement therapy) muscle damage to the damaged autophagic system and the different pathways involved. What methodology should be employed to study the complex characteristics of Pompe disease? Our approach relies on the application of genetic and epigenetic knowledge, with a progression from proteomics to transcriptomics. It is also becoming increasingly evident that artificial intelligence is a significant area of interest. The objective of this study is to conduct a comprehensive review of the existing literature on the known data and complications associated with the disease in patients with disorders attributed to Pompe disease.<\/jats:p>","DOI":"10.3390\/ijms26020757","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T03:33:02Z","timestamp":1737084782000},"page":"757","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease"],"prefix":"10.3390","volume":"26","author":[{"given":"Marta","family":"Moschetti","sequence":"first","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Venezia","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Giacomarra","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela Maria","family":"Marsana","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Zizzo","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Duro","sequence":"additional","affiliation":[{"name":"Internal Medicine, Ospedale Cattinara, 34149 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"D\u2019Errico","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2470-7030","authenticated-orcid":false,"given":"Paolo","family":"Colomba","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Duro","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Do, H., Meena, N.K., and Raben, N. (2024). Failure of Autophagy in Pompe Disease. Biomolecules, 14.","DOI":"10.3390\/biom14050573"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1186\/s13023-024-03262-2","article-title":"A rare partnership: Patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem","volume":"19","author":"Klein","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"BBanugaria, S.G., Prater, S.N., Patel, T.T., DeArmey, S.M., Milleson, C., Sheets, K.B., Bali, D.S., Rehder, C.W., Raiman, J.A.J., and Wang, R.A. (2013). 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, 8.","DOI":"10.1371\/journal.pone.0067052"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s40291-024-00733-x","article-title":"Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy","volume":"28","author":"Colella","year":"2024","journal-title":"Mol. Diagn. Ther."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s40259-024-00674-1","article-title":"Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems","volume":"38","year":"2024","journal-title":"BioDrugs"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Moschetti, M., Lo Curto, A., Giacomarra, M., Francofonte, D., Zizzo, C., Messina, E., Duro, G., and Colomba, P. (2024). Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25179139"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"G\u00f3mez-Cebri\u00e1n, N., Gras-Colomer, E., Poveda Andr\u00e9s, J.L., Pineda-Lucena, A., and Puchades-Carrasco, L. (2023). Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes. Biology, 12.","DOI":"10.3390\/biology12091159"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e1957","DOI":"10.1002\/mgg3.1957","article-title":"Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study","volume":"10","year":"2022","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"E524","DOI":"10.1152\/ajpendo.00175.2024","article-title":"Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease","volume":"327","author":"Gaspar","year":"2024","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Ren, P., Lu, L., Cai, S., Chen, J., Lin, W., and Han, F. (2021). Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.713540"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"6863","DOI":"10.1007\/s00216-023-04964-5","article-title":"Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II)","volume":"415","author":"Ren","year":"2023","journal-title":"Anal. Bioanal. Chem."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Ren, J., Ma, Y., Ma, M., Ding, J., Jiang, J., Zheng, X., and Han, X. (2023). Rapid ultra-performance liquid chromatography-tandem mass spectrometry method for the simultaneous determination of three characteristic urinary saccharide metabolites in patients with glycogen storage diseases (type Ib and II). J. Chromatogr. B Analyt Technol. Biomed. Life Sci., 1229.","DOI":"10.1016\/j.jchromb.2023.123900"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e13573","DOI":"10.1111\/cpr.13573","article-title":"Mitochondrial dysfunction is associated with hypertrophic cardiomyopathy in Pompe disease-specific induced pluripotent stem cell-derived cardiomyocytes","volume":"57","author":"Huang","year":"2024","journal-title":"Cell Prolif."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Chen, S., Li, Q., Shi, H., Li, F., Duan, Y., and Guo, Q. (2024). New insights into the role of mitochondrial dynamics in oxidative stress-induced diseases. Biomed. Pharmacother., 178.","DOI":"10.1016\/j.biopha.2024.117084"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e14434","DOI":"10.15252\/emmm.202114434","article-title":"Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease","volume":"13","author":"Tarallo","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.3390\/cimb45040186","article-title":"Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)","volume":"45","author":"Errichiello","year":"2023","journal-title":"Curr. Issues Mol. Biol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1152\/japplphysiol.00154.2020","article-title":"Polymorphism in exercise genes and respiratory function in late-onset Pompe disease","volume":"131","author":"Ravaglia","year":"2021","journal-title":"J. Appl. Physiol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/GIM.0b013e3181d2900e","article-title":"The angiotensin-converting enzyme insertion\/deletion polymorphism modifies the clinical outcome in patients with Pompe disease","volume":"12","author":"Ravaglia","year":"2010","journal-title":"Genet. Med."},{"key":"ref_19","first-page":"48","article-title":"The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa","volume":"8","author":"Baek","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_20","first-page":"100591","article-title":"Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences","volume":"23","author":"Chien","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1002\/cpt.3407","article-title":"Getting the Dose Right in Drug Development for Rare Diseases: Barriers and Enablers","volume":"116","author":"Ahmed","year":"2024","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Kaddi, C., Tao, M., Bergeler, S., George, K., Geerts, H., van der Graaf, P.H., Batista, J.L., Foster, M., Ortemann-Renon, C., and Zaher, A. (2024). Quantitative Systems Pharmacology-Based Digital Twins Approach Supplements Clinical Trial Data for Enzyme Replacement Therapies in Pompe Disease. Clin. Pharmacol. Ther.","DOI":"10.1002\/cpt.3498"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"733","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","volume":"269","author":"Berli","year":"2022","journal-title":"J. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","article-title":"Lysosomal disorders: From storage to cellular damage","volume":"1793","author":"Ballabio","year":"2009","journal-title":"Biochim. Biophys. Acta."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"102265","DOI":"10.1016\/j.omtn.2024.102265","article-title":"Precision medicine in action for Pompe disease","volume":"35","author":"Tarallo","year":"2024","journal-title":"Mol. Ther. Nucleic Acids."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"8","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":"Gravel","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1002\/mus.25042","article-title":"Next generation sequencing detection of late onset pompe disease","volume":"53","author":"Angelini","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Singh, K., Bijarnia-Mahay, S., Ramprasad, V.L., Puri, R.D., Nair, S., Sharda, S., Saxena, R., Kohli, S., Kulshreshtha, S., and Ganguli, I. (2020). NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results\u2014A pilot study. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-01153-4"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/s41436-020-01080-y","article-title":"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","volume":"23","author":"Li","year":"2021","journal-title":"Genet. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"297","DOI":"10.5455\/medarh.2013.67.297-298","article-title":"Pompe disease with heterogeneous presentations within a family","volume":"67","author":"Barbullushi","year":"2013","journal-title":"Med. Arch."},{"key":"ref_31","first-page":"101141","article-title":"Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation","volume":"41","author":"Fares","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1056\/NEJMoa2200587","article-title":"In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe\u2019s Disease","volume":"387","author":"Cohen","year":"2022","journal-title":"N. Engl. J. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s10545-015-9889-6","article-title":"Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up","volume":"39","author":"Kruijshaar","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s41669-019-0142-3","article-title":"A Systematic Review of the Health Economics of Pompe Disease","volume":"3","author":"Schoser","year":"2019","journal-title":"PharmacoEcon. Open."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e12793","DOI":"10.1002\/jimd.12793","article-title":"High-risk screening for late-onset Pompe disease in China: An expanded multicenter study","volume":"48","author":"Jiao","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"15856","DOI":"10.18632\/aging.103794","article-title":"Pompe disease: Pathogenesis, molecular genetics and diagnosis","volume":"12","author":"Taverna","year":"2020","journal-title":"Aging"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Myerowitz, R., Puertollano, R., and Raben, N. (2021). Impaired autophagy: The collateral damage of lysosomal storage disorders. EBioMedicine, 63.","DOI":"10.1016\/j.ebiom.2020.103166"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ymgme.2019.11.005","article-title":"Links between autophagy and disorders of glycogen metabolism\u2014Perspectives on pathogenesis and possible treatments","volume":"129","author":"Farah","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1080\/15548627.2020.1749490","article-title":"The AMPK-MFN2 axis regulates MAM dynamics and autophagy induced by energy stresses","volume":"17","author":"Hu","year":"2021","journal-title":"Autophagy"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s10974-020-09583-6","article-title":"Calsequestrin, a key protein in striated muscle health and disease","volume":"42","author":"Rossi","year":"2021","journal-title":"J. Muscle Res. Cell Motil."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Wang, H., Zhang, C., Dong, Z., Zhu, X., Zheng, X., Liu, Z., Zhou, J., Yu, S., Wu, X., and Dong, X. (2024). Using an In Vivo Mouse Model to Determine the Exclusion Criteria of Preexisting Anti-AAV9 Neutralizing Antibody Titer of Pompe Disease Patients in Clinical Trials. Viruses, 16.","DOI":"10.3390\/v16030400"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"105037","DOI":"10.1016\/j.jprot.2023.105037","article-title":"Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease","volume":"291","author":"Liang","year":"2024","journal-title":"J. Proteom."},{"key":"ref_43","doi-asserted-by":"crossref","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":"ref_44","doi-asserted-by":"crossref","unstructured":"Sepp\u00e4l\u00e4, E.H., Reuser, A.J., and Lohi, H. (2013). A nonsense mutation in the acid \u03b1-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0056825"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Zhang, H., Chen, J., Zhu, Y., Ma, X., and Zhong, W. (2022). Case Report: Identification of Compound Heterozygous Mutations in a Patient with Late-Onset Glycogen Storage Disease Type II (Pompe Disease). Front. Neurol., 13.","DOI":"10.3389\/fneur.2022.839263"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.omtn.2017.03.001","article-title":"Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease","volume":"7","author":"Bergsma","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/j.nmd.2015.07.002","article-title":"Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum","volume":"25","author":"Musumeci","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.gene.2015.02.023","article-title":"Novel GAA mutations in patients with Pompe disease","volume":"561","author":"Kyosen","year":"2015","journal-title":"Gene"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1186\/s13256-024-04638-5","article-title":"Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: A case report","volume":"18","year":"2024","journal-title":"J. Med. Case Rep."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Labella, B., Piccinelli, S.C., Risi, B., Caria, F., Damioli, S., Bertella, E., Poli, L., Padovani, A., and Filosto, M. (2023). A Comprehensive Update on Late-Onset Pompe Disease. Biomolecules, 13.","DOI":"10.3390\/biom13091279"},{"key":"ref_51","first-page":"393","article-title":"Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy","volume":"64","author":"Hannah","year":"2023","journal-title":"JIMD Rep."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"143","DOI":"10.5603\/PJNNS.a2022.0075","article-title":"Multisystem presentation of Late Onset Pompe Disease: What every consulting neurologist should know","volume":"57","year":"2023","journal-title":"Neurol. Neurochir. Pol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"713","DOI":"10.2147\/TCRM.S362871","article-title":"Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives","volume":"19","author":"Khan","year":"2023","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Boentert, M., Prigent, H., V\u00e1rdi, K., Jones, H.N., Mellies, U., Simonds, A.K., Wenninger, S., Cort\u00e9s, E.B., and Confalonieri, M. (2016). Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17101735"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"289","DOI":"10.21037\/atm.2019.04.49","article-title":"An emerging phenotype of central nervous system involvement in Pompe disease: From bench to bedside and beyond","volume":"7","author":"Korlimarla","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Korlimarla, A., Lim, J.A., McIntosh, P., Zimmerman, K., Sun, B.D., and Kishnani, P.S. (2021). New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. J. Clin. Med., 10.","DOI":"10.3390\/jcm10153395"},{"key":"ref_57","doi-asserted-by":"crossref","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":"ref_58","doi-asserted-by":"crossref","first-page":"2518","DOI":"10.1007\/s00415-019-09455-1","article-title":"Bright tongue sign in patients with late-onset Pompe disease","volume":"266","author":"Karam","year":"2019","journal-title":"J. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Ozdamar, S.E., Koc, A.F., Tekce, H.D., Kotan, D., Ekmekci, A.H., Sengun, I.S., Yuceyar, A.N., and Uluc, K. (2023). Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: A neurologist\u2019s perspective. Front. Neurol., 14.","DOI":"10.3389\/fneur.2023.1095134"},{"key":"ref_60","first-page":"101085","article-title":"Acid \u03b1-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review","volume":"39","author":"Schoser","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_61","first-page":"CD012993","article-title":"Enzyme replacement therapy for late-onset Pompe disease","volume":"12","author":"Dalmia","year":"2023","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"284","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":"ref_63","first-page":"CD011539","article-title":"Enzyme replacement therapy for infantile-onset Pompe disease","volume":"11","author":"Chen","year":"2017","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Chen, H.-A., Hsu, R.-H., Fang, C.-Y., Desai, A.K., Lee, N.-C., Hwu, W.-L., Tsai, F.-J., Kishnani, P.S., and Chien, Y.-H. (2024). Optimizing treatment outcomes: Immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy. Front. Immunol., 15.","DOI":"10.3389\/fimmu.2024.1336599"},{"key":"ref_65","doi-asserted-by":"crossref","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":"ref_66","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1111\/j.1432-1033.1995.903_a.x","article-title":"Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase","volume":"234","author":"Fuller","year":"1995","journal-title":"Eur. J. Biochem."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ymgme.2017.07.012","article-title":"The role of epigenetics in lysosomal storage disorders: Uncharted territory","volume":"122","author":"Hassan","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1161\/CIRCULATIONAHA.110.956839","article-title":"Epigenetic modifications: Basic mechanisms and role in cardiovascular disease","volume":"123","author":"Handy","year":"2011","journal-title":"Circulation"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2402503","DOI":"10.1080\/07853890.2024.2402503","article-title":"Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model","volume":"56","author":"Merberg","year":"2024","journal-title":"Ann. Med."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/s41436-018-0103-8","article-title":"microRNAs as biomarkers in Pompe disease","volume":"21","author":"Tarallo","year":"2019","journal-title":"Genet. Med."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.ejpn.2018.08.001","article-title":"Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care","volume":"22","author":"Ricci","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Claeys, K.G., D\u2019Hondt, A., Fache, L., Peers, K., and Depuydt, C.E. (2022). Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients. Cells, 11.","DOI":"10.3390\/cells11030334"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"108119","DOI":"10.1016\/j.ymgme.2023.108119","article-title":"Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease","volume":"141","author":"Korlimarla","year":"2024","journal-title":"Mol. Genet. Metab."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2017.04.014","article-title":"Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up","volume":"121","author":"Spiridigliozzi","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"Lin, S., Nateqi, J., Weingartner-Ortner, R., Gruarin, S., Marling, H., Pilgram, V., Lagler, F.B., Aigner, E., and Martin, A.G. (2023). An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease. Front. Neurol., 14.","DOI":"10.3389\/fneur.2023.1108222"},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Rustamov, J., Rustamov, Z., Mohamad, M.S., Zaki, N., Al Tenaiji, A., Al Harbi, M., and Al Jasmi, F. (2024). An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records. Sci. Rep., 14.","DOI":"10.1038\/s41598-024-72259-5"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/s41746-019-0143-8","article-title":"Mobility assessment using wearable technology in patients with late-onset Pompe disease","volume":"2","author":"Hamed","year":"2019","journal-title":"NPJ Digit. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.nmd.2018.03.005","article-title":"A mobile app for patients with Pompe disease and its possible clinical applications","volume":"28","author":"Ricci","year":"2018","journal-title":"Neuromuscul. Disord."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/2\/757\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T10:30:25Z","timestamp":1759919425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/2\/757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,17]]},"references-count":78,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["ijms26020757"],"URL":"https:\/\/doi.org\/10.3390\/ijms26020757","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,17]]}}}