{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T10:48:22Z","timestamp":1788778102198,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,9,25]],"date-time":"2007-09-25T00:00:00Z","timestamp":1190678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muscle weakness is the main symptom of Pompe disease, a lysosomal storage disorder for which major clinical benefits of enzyme replacement therapy (ERT) have been documented recently. Restoration of skeletal muscle function is a challenging goal. Type 2 muscle fibers of mice with Pompe disease have proven resistant to therapy. To investigate the response in humans, we studied muscle biopsies of a severely affected infant before and after 17 months of therapy. Type 1 and 2a fibers were marked with antibodies, and lysosome\u2010associated membrane protein\u20101 (Lamp1) was used as the lysosomal membrane marker. Quantitative measurements showed a 2.5\u20133\u2010fold increase of fiber cross\u2010sectional area of both fiber types during therapy and normalization of the Lamp1 signal in \u223c95% of type 1 and \u223c75% of type 2a fibers. The response of both type 1 and 2a muscle fibers in the patient studied herein corroborates the beneficial effects of enzyme therapy seen in patients with Pompe disease. Muscle Nerve, 2007<\/jats:p>","DOI":"10.1002\/mus.20896","type":"journal-article","created":{"date-parts":[[2007,9,25]],"date-time":"2007-09-25T21:18:48Z","timestamp":1190755128000},"page":"251-255","source":"Crossref","is-referenced-by-count":23,"title":["Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease"],"prefix":"10.1002","volume":"37","author":[{"given":"Maarten R.","family":"Drost","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Schaart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine I.","family":"van Capelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ger J.","family":"van Der Vusse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammo","family":"Delhaas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"van Der Ploeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold J. J.","family":"Reuser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,9,25]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"1559","volume-title":"Myology, basic and clinical","author":"Engel A","year":"2004"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20807"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.4161\/auto.2984"},{"key":"e_1_2_7_5_2","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.022"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700484"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e448"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10381"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.20896","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.20896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T00:23:06Z","timestamp":1697502186000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.20896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,25]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["10.1002\/mus.20896"],"URL":"https:\/\/doi.org\/10.1002\/mus.20896","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,25]]}}}