{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:23:16Z","timestamp":1790677396345,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,1,31]],"date-time":"2012-01-31T00:00:00Z","timestamp":1327968000000},"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":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Glycogen storage disease type 2(GSD2)\/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present an open\u2010label, investigator\u2010initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult\u2010onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2\u2009\u00b1\u200910.5 years. Mean delay between symptom onset and start of ERT was 14.5\u2009\u00b1\u20097.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10\u2010meter walk tests, 4\u2010stair climb tests, modified Gowers\u2019 maneuvers, 6\u2010minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF\u201036 self\u2010reporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312\u2009\u00b1\u2009165.5 m, improving to 344\u2009\u00b1\u2009165.8 m after 12 months (p\u2009=\u20090.006), remaining at 356.4\u2009\u00b1\u2009155.9 m at 24 months (p\u2009=\u20090.033), and declining to 325.6\u2009\u00b1\u2009174.8 m after 36 months of ERT (p\u2009=\u20090.49, n.s.). The mean FVC in 28 patients was 80.27\u2009\u00b1\u200914.08% of predicted normal at baseline, after 12 months 79.19\u2009\u00b1\u200913.09%, at 24 months 78.62\u2009\u00b1\u200916.55%, and 77.19\u2009\u00b1\u200918.05% after 36 months. Only mean CK levels were significantly decreased by 8.8% (p\u2009=\u20090.041). All other tests were statistically non\u2010significant changed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our data denote a rather variable course of neuromuscular deficits in chronic adult\u2010onset Pompe patients during 36 months of alglucosidase alfa ERT.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-012-9451-8","type":"journal-article","created":{"date-parts":[[2012,1,30]],"date-time":"2012-01-30T15:31:55Z","timestamp":1327937515000},"page":"837-845","source":"Crossref","is-referenced-by-count":117,"title":["36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy"],"prefix":"10.1002","volume":"35","author":[{"given":"Caroline","family":"Regnery","sequence":"first","affiliation":[{"name":"Friedrich\u2010Baur Institute, Department of Neurology Ludwig\u2010Maximilians University Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Hanisch","sequence":"additional","affiliation":[{"name":"Department of Neurology Martin\u2010Luther\u2010University Halle\u2010Wittenberg Halle Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Vielhaber","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Magdeburg Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Strigl\u2010Pill","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur Institute, Department of Neurology Ludwig\u2010Maximilians University Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Grunert","sequence":"additional","affiliation":[{"name":"Neurologisches Rehabilitationszentrum Friedehorst Bremen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller\u2010Felber","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur Institute, Department of Neurology Ludwig\u2010Maximilians University Munich Munich Germany"},{"name":"Department of Neuropaediatrics Ludwig\u2010Maximilians University Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz Xaver","family":"Glocker","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Spranger","sequence":"additional","affiliation":[{"name":"Neurologisches Rehabilitationszentrum Friedehorst Bremen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology Martin\u2010Luther\u2010University Halle\u2010Wittenberg Halle Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Johannes\u2010Gutenberg University Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur Institute, Department of Neurology Ludwig\u2010Maximilians University Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","unstructured":"AngeliniC SempliciniC RavagliaS et al.The Italian GSDII Group. 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