{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T15:57:16Z","timestamp":1786636636361,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"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":["JPGN rep."],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24\u2010h urine copper excretion, with Kayser\u2013Fleischer (KF) rings being a supportive feature. We describe a 7\u2010year\u2010old girl who presented with isolated elevation of serum alanine aminotransferase (ALT), low serum ceruloplasmin, and presence of nonspecific autoantibodies. Liver biopsy revealed elevated hepatic copper content (241\u2009\u03bcg\/g dry weight), mild macrovesicular steatosis, negative copper staining and no KF rings. Targeted genetic testing identified a single pathogenic ATP7B variant, and whole exome sequencing (WES) later revealed a second variant of uncertain significance (VUS). Repeat liver biopsy showed hepatic copper content of 258\u2009mcg\/g, meeting diagnostic criteria. The patient was started on trientine, and ALT normalized within 3 months, with increased urinary copper excretion. This case underscores how WD can mimic autoimmune hepatitis and metabolic dysfunction\u2010associated steatotic liver disease (MASLD), and how diagnosis may rely on integrating histologic findings, genetic data, and therapeutic response.<\/jats:p>","DOI":"10.1002\/jpr3.70179","type":"journal-article","created":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T10:50:49Z","timestamp":1775213449000},"page":"394-397","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The utility of whole exome sequencing in diagnosing Wilson disease: A case report"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8088-2079","authenticated-orcid":false,"given":"Mihir J.","family":"Palan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Oregon Health &amp; Science University Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Simpson","sequence":"additional","affiliation":[{"name":"Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Miranda","sequence":"additional","affiliation":[{"name":"Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Hakar","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Oregon Health &amp; Science University Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3927-6835","authenticated-orcid":false,"given":"Henry C.","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health &amp; Science University Portland Oregon USA"},{"name":"Division of Pediatric Gastroenterology Doernbecher Children's Hospital Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.871877"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.32801"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63625-6.00003-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/sjg.sjg_501_21"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1542-3565(05)00181-3"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15319"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.modpat.2024.100628"},{"key":"e_1_2_8_9_1","article-title":"EASL\u2010ERN clinical practice guidelines on Wilson's disease","volume":"22","author":"European Association for the Study of the Liver","year":"2025","journal-title":"J Hepatol"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70179","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpr3.70179","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T14:59:20Z","timestamp":1786633160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.70179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/jpr3.70179"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.70179","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,3]]},"assertion":[{"value":"2025-05-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}