{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:31Z","timestamp":1792166611030,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T00:00:00Z","timestamp":1362441600000},"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":[[2013,4]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>: Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and\/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early mortality of the disease. <jats:italic>Methods<\/jats:italic>: Three Pompe disease patients are discussed to highlight the challenging path to diagnosis and the common cluster of symptoms that could lead to timely and accurate diagnosis. <jats:italic>Results<\/jats:italic>: After significant delays in diagnosis, Pompe disease was diagnosed on the basis of the pattern of proximal weakness. <jats:italic>Conclusions<\/jats:italic>: Suspicion and recognition of the characteristic symptoms of Pompe disease may improve both the timing and accuracy of the diagnosis, which will improve clinical outcomes and minimize disease progression. Muscle Nerve, 2013<\/jats:p>","DOI":"10.1002\/mus.23643","type":"journal-article","created":{"date-parts":[[2012,10,2]],"date-time":"2012-10-02T13:43:14Z","timestamp":1349185394000},"page":"594-600","source":"Crossref","is-referenced-by-count":13,"title":["Pompe disease, the must\u2010not\u2010miss diagnosis: A report of 3 patients"],"prefix":"10.1002","volume":"47","author":[{"given":"Alberto","family":"Dubrovsky","sequence":"first","affiliation":[{"name":"Department of Neurology Neuromuscular Diseases Unit Favaloro Foundation Institute of Neurosciences Rivadavia 4951\u20101405 Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Corderi","sequence":"additional","affiliation":[{"name":"Department of Neurology Neuromuscular Diseases Unit Favaloro Foundation Institute of Neurosciences Rivadavia 4951\u20101405 Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Karasarides","sequence":"additional","affiliation":[{"name":"Myozyme Global Marketing and Strategic Development Genzyme Corporation Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lia","family":"Taratuto","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurological Research FLENI Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605789"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/auto.5.1.7293"},{"key":"e_1_2_7_5_1","first-page":"3389","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.11.007"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.004"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.158329"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21393"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0b013e318176dbe4"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.06.002"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5275-3"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21025"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000165979.46537.56"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21376"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.006"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-34"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_7_21_1","first-page":"1559","volume-title":"Myology","author":"Engel AG","year":"2004"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh384"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.012"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249183.39952.3e"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22202"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.4.851"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000216144.69630.6e"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23643","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23643","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T02:04:02Z","timestamp":1698631442000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,5]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/mus.23643"],"URL":"https:\/\/doi.org\/10.1002\/mus.23643","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,5]]}}}