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Later on in life, she reported joint pain and discomfort. Sarcoidosis was thought to be the putative cause on more than one occasion. However, the presence of splenomegaly and her relatively young age, led the rheumatologist to the correct diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2012-008185","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T00:59:00Z","timestamp":1360889940000},"page":"bcr-2012-008185","source":"Crossref","is-referenced-by-count":2,"title":["An ACE diagnosis"],"prefix":"10.1136","volume":"2013","author":[{"given":"Omar","family":"Nasher","sequence":"first","affiliation":[{"name":"Department of Rheumatology, Nottingham University Hospitals NHS Trust\u2014Queen's Medical Centre, Nottingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anindya","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Nottingham University Hospitals NHS Trust\u2014Queen's Medical Centre, Nottingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"2025082707165574000_2013.feb14_1.bcr-2012-008185.1","first-page":"3","article-title":"The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review","volume":"10","author":"Connock","year":"2006","journal-title":"Health Technol Assess"},{"key":"2025082707165574000_2013.feb14_1.bcr-2012-008185.2","first-page":"4","volume":"6","author":"Balameena","year":"2004","journal-title":"Childhood Sarcoidosis"},{"key":"2025082707165574000_2013.feb14_1.bcr-2012-008185.3","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6890-7-1"},{"key":"2025082707165574000_2013.feb14_1.bcr-2012-008185.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05490-3"},{"key":"2025082707165574000_2013.feb14_1.bcr-2012-008185.5","unstructured":"Deegan P Hughes D Mehta A . 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