{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T14:27:14Z","timestamp":1777300034940,"version":"3.51.4"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Two sisters presented with lower limb deformity and difficulty in walking without support. Both had short stature; however, neurodevelopment and secondary sexual characters were normal. Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser\u2013Fleischer (K\u2013F) rings. Diagnosis of Wilson\u2019s disease was confirmed with low serum copper and ceruloplasmin levels. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal renal tubular acidosis. Both patients were started on copper chelation therapy and showed gradual radiographic improvement in osteopaenia.<\/jats:p>","DOI":"10.1136\/bcr.04.2011.4121","type":"journal-article","created":{"date-parts":[[2011,8,15]],"date-time":"2011-08-15T07:58:06Z","timestamp":1313395086000},"page":"bcr0420114121","source":"Crossref","is-referenced-by-count":17,"title":["Renal tubular acidosis due to Wilson\u2019s disease presenting as metabolic bone disease"],"prefix":"10.1136","volume":"2011","author":[{"given":"Atul Vijay","family":"Palkar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makardhwaj Sarvadaman","family":"Shrivastava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namita J","family":"Padwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rupal N","family":"Padhiyar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nivedita","family":"Moulick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2011,8,15]]},"reference":[{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60196-2"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.2","doi-asserted-by":"publisher","DOI":"10.1023\/B:UROL.0000034630.73124.36"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.3","doi-asserted-by":"publisher","DOI":"10.1136\/ard.36.2.99"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.4","doi-asserted-by":"publisher","DOI":"10.1007\/BF00352081"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.5","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1600-0404.1978.tb02851.x","article-title":"Osteoarthropathy of hepatolenticular degeneration.","volume":"57","author":"Canelas","year":"1978","journal-title":"Acta Neurol Scand"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.6","first-page":"149","article-title":"Wilson\u00e2\u0080\u0099s disease (a case report).","volume":"26","author":"Rais","year":"1980","journal-title":"J Postgrad Med"},{"issue":"1 Pt 1","key":"2025082800563484000_2011.aug11_1.bcr0420114121.7","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1212\/WNL.18.1_Part_1.21","article-title":"Wilson\u00e2\u0080\u0099s disease in India. I. Geographic, genetic, and clinical aspects in 16 families.","volume":"18","author":"Dastur","year":"1968","journal-title":"Neurology"},{"key":"2025082800563484000_2011.aug11_1.bcr0420114121.8","first-page":"1876","article-title":"Hepatolenticular degeneration (Wilson\u00e2\u0080\u0099s disease) and rickets in children.","volume":"61","author":"Joshua","year":"1973","journal-title":"Indian J Med Res"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.04.2011.4121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:56:41Z","timestamp":1756367801000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.04.2011.4121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,15]]},"references-count":8,"alternative-id":["10.1136\/bcr.04.2011.4121"],"URL":"https:\/\/doi.org\/10.1136\/bcr.04.2011.4121","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,15]]}}}