{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T09:47:11Z","timestamp":1782467231695,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T00:00:00Z","timestamp":1781136000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Medical Journal of Australia"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18\u2010year\u2010old athletic woman with a 2\u2010year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic causes. Despite normal liver imaging and biopsy, ongoing abnormalities prompted metabolic evaluation, leading to the diagnosis of late\u2010onset Pompe disease. This case highlights the diagnostic challenges of rare metabolic myopathies, the importance of recognising muscle\u2010derived aminotransferase elevation and the need for broad diagnostic consideration when standard investigations are unrevealing.<\/jats:p>","DOI":"10.5694\/mja2.70228","type":"journal-article","created":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:40:22Z","timestamp":1781174422000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["When \u2018Liver Enzymes\u2019 Are Not Hepatic: Late\u2010Onset Pompe Disease"],"prefix":"10.5694","volume":"224","author":[{"given":"Shauna","family":"Madigan","sequence":"first","affiliation":[{"name":"Hepatology Leeds Teaching Hospitals, National Health Services Trust  Leeds UK"},{"name":"Hepatology Flinders Medical Centre  Bedford Park South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina","family":"England","sequence":"additional","affiliation":[{"name":"Anatomical Pathology SA Pathology  Adelaide South Australia Australia"},{"name":"Anatomical Pathology Clinpath Laboratories  Mile End South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4427-9547","authenticated-orcid":false,"given":"Wayne","family":"Rankin","sequence":"additional","affiliation":[{"name":"Endocrine and Metabolism Unit Royal Adelaide Hospital  Adelaide South Australia Australia"},{"name":"Department of Chemical Pathology SA Pathology  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.03.007"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom13091279"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcps2506055"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20548"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2016.517"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000001182"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcps2505113"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-2-2"}],"container-title":["Medical Journal of Australia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.5694\/mja2.70228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.5694\/mja2.70228","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.5694\/mja2.70228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T09:06:04Z","timestamp":1782464764000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.5694\/mja2.70228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.5694\/mja2.70228"],"URL":"https:\/\/doi.org\/10.5694\/mja2.70228","archive":["Portico"],"relation":{},"ISSN":["0025-729X","1326-5377"],"issn-type":[{"value":"0025-729X","type":"print"},{"value":"1326-5377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"2026-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70228"}}