{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:59Z","timestamp":1790677379751,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Type II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha\u2010glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha\u2010glucosidase (rhGAA) has been demonstrated to be effective in the treatment of infantile forms of GSDII, but little information is available concerning late\u2010onset phenotypes. Long\u2010term follow\u2010up studies are not available at present. The aim of this study was to evaluate the ERT long\u2010term effects in late\u2010onset GSDII.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010four patients, including 7 juveniles and 17 adults, received bi\u2010weekly infusion of rhGAA (20 mg\/kg) for at least 36 months. Clinical conditions, muscular function (6\u2010min walking test, 6MWT; Walton scale, WS), respiratory function (vital capacity, VC; forced expiratory volume, FEV1; arterial pCO<jats:sub>2<\/jats:sub>), and muscle enzymes were assessed every 6 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 6MWT improved in both juvenile and adult patients (<jats:italic>p<\/jats:italic>\u2009=\u20090.01, <jats:italic>p<\/jats:italic>\u2009=\u20090.0002, respectively), as well as in patients with moderate to severe muscle function impairment (WS\u2009&gt;\u20093.5; <jats:italic>p<\/jats:italic>\u2009=\u20090.002). An overall improvement in WS was also observed (<jats:italic>p<\/jats:italic>\u2009=\u20090.0003). VC and FEV1 remained unchanged, while pCO<jats:sub>2<\/jats:sub> decreased (<jats:italic>p<\/jats:italic>\u2009=\u20090.017). Muscle enzymes decreased significantly (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001). Two patients (8%) showed transient secondary events during ERT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Long\u2010term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late\u2010onset GSDII. The response pattern showed a progressive clinical improvement during the follow\u2010up period in juvenile patients, while in adults it reached and maintained a plateau after the first year of treatment.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-010-9201-8","type":"journal-article","created":{"date-parts":[[2010,9,13]],"date-time":"2010-09-13T10:30:47Z","timestamp":1284373847000},"page":"727-735","source":"Crossref","is-referenced-by-count":81,"title":["Long\u2010term observational, non\u2010randomized study of enzyme replacement therapy in late\u2010onset glycogenosis type II"],"prefix":"10.1002","volume":"33","author":[{"given":"Bruno","family":"Bembi","sequence":"first","affiliation":[{"name":"Regional Coordination Centre for Rare Diseases University Hospital Santa Maria della Misericordia Piazzale Santa Maria della Misericordia 15 Udine 33100 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica Edith","family":"Pisa","sequence":"additional","affiliation":[{"name":"Institute of Hygiene and Clinical Epidemiology University Hospital Santa Maria della Misericordia Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Confalonieri","sequence":"additional","affiliation":[{"name":"Pulmonary Unit University Hospital of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ciana","sequence":"additional","affiliation":[{"name":"Regional Coordination Centre for Rare Diseases University Hospital Santa Maria della Misericordia Piazzale Santa Maria della Misericordia 15 Udine 33100 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[{"name":"Paediatric Clinic University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Parini","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Paediatric Department San Gerardo Hospital Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rigoldi","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Paediatric Department San Gerardo Hospital Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arrigo","family":"Moglia","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Carlucci","sequence":"additional","affiliation":[{"name":"Respiratory Intensive Care Unit, IRCCS Fondazione Maugeri Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriela","family":"Pittis","sequence":"additional","affiliation":[{"name":"Metabolic Unit, I.R.C.C.S. 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