{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:15:46Z","timestamp":1791281746973,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"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":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction:<\/jats:title><jats:p>Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid \u03b1\u2010glucosidase (GAA). A few late\u2010onset patients have been reported with skin fibroblast GAA activity levels of &lt;2%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We measured GAA activity in skin fibroblasts from 101 patients with late\u2010onset Pompe disease. Whenever possible, we performed Western blot analysis and correlated the results with GAA activity and GAA gene mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Thirteen patients (13%) had skin fibroblast GAA activity of &lt;1% of normal. Although there was wide genetic heterogeneity, none of these patients carried the common late\u2010onset mutation c.\u201032\u201013T&gt;G. We performed Western blot on 11 patients with &lt;1% GAA activity. All produced GAA protein that was at lower levels and\/or was abnormally processed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion:<\/jats:title><jats:p>There is no common mutation associated with &lt;1% GAA activity in late\u2010onset Pompe disease patients. Most patients produce unprocessed forms of GAA protein compared with patients with higher GAA activity. Muscle Nerve, 2011<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.21933","type":"journal-article","created":{"date-parts":[[2011,4,12]],"date-time":"2011-04-12T07:34:27Z","timestamp":1302593667000},"page":"665-670","source":"Crossref","is-referenced-by-count":31,"title":["Molecular analysis and protein processing in late\u2010onset pompe disease patients with low levels of acid \u03b1\u2010glucosidase activity"],"prefix":"10.1002","volume":"43","author":[{"given":"Deeksha S.","family":"Bali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adviye A.","family":"Tolun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4,11]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.16.8861"},{"key":"e_1_2_6_3_2","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2000"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.006"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000299892.81127.8e"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113008"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0191-9"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380316"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2007.00839.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050030"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10286"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.32"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M404008200"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31819d0996"},{"key":"e_1_2_6_19_2","doi-asserted-by":"crossref","first-page":"13507","DOI":"10.1016\/S0021-9258(18)92727-4","article-title":"Human lysosomal alpha\u2010glucosidase. 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