{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:36:06Z","timestamp":1762004166802,"version":"3.28.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,5,26]],"date-time":"2009-05-26T00:00:00Z","timestamp":1243296000000},"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":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid \u03b1\u2010glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late\u2010onset form of Pompe disease. Molecular genetic analysis of the GAA gene revealed a novel missense mutation, 1725C&gt;A (Y575X), combined with a previously reported mutation, 1634C&gt;T (P545L). Human recombinant \u03b1\u2010glucosidase enzyme (alglucosidase\u2010\u03b1) treatment was initiated for this patient at age 20 years. After 12 months she was no longer fully wheelchair\u2010bound, and muscle strength had improved. No disease progression was visible on muscle magnetic resonance imaging of the lower limbs, and the energy state of the muscle cells increased by 46% on phosphorus magnetic resonance spectroscopy. Overall, our findings suggest that enzyme replacement therapy is indicated, even in patients with late\u2010onset Pompe disease, to halt disease progression and improve the quality of daily life. Muscle Nerve, 2009<\/jats:p>","DOI":"10.1002\/mus.21291","type":"journal-article","created":{"date-parts":[[2009,5,26]],"date-time":"2009-05-26T19:38:34Z","timestamp":1243366714000},"page":"143-148","source":"Crossref","is-referenced-by-count":15,"title":["A novel mutation of the GAA gene in a Finnish late\u2010onset pompe disease patient: Clinical phenotype and follow\u2010up with enzyme replacement therapy"],"prefix":"10.1002","volume":"40","author":[{"given":"Mari P.","family":"Korpela","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Paetau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mervi I.","family":"L\u00f6fberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjut H.","family":"Timonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antti E.","family":"Lamminen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sari M.K.","family":"Kiuru\u2010Enari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,26]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300116"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200009)23:9<1316::AID-MUS2>3.0.CO;2-I"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.02.006"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.1880020510"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2213"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj2890687"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10286"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2231"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274141"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.009"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252798.25690.76"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1991.10.681"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.1985.248.3.C279"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.06.002"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.09.012"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.177.2.2217788"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.08.003"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.006"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605789"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<175::AID-MUS5>3.0.CO;2-R"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00142-5"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e448"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010383421286"},{"key":"e_1_2_7_30_2","first-page":"709","article-title":"Pompen tauti\u2010glykogeenin varastoitumissairaus","volume":"98","author":"Vanto T","year":"1982","journal-title":"Duodecim"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20019"}],"container-title":["Muscle &amp; 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