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Subsequent blood tests and enzyme assays showed undetectable lysosomal acid lipase activity, confirming the diagnosis of lysosomal acid lipase deficiency by day 12 of life before the onset of typical symptoms of the disease.<\/jats:p>","DOI":"10.1136\/bcr-2025-265278","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:30:22Z","timestamp":1746750622000},"page":"e265278","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate"],"prefix":"10.1136","volume":"18","author":[{"given":"Pooja","family":"Vasista","sequence":"first","affiliation":[{"name":"Paediatrics, Burton District Hospital, Burton upon Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0306-1901","authenticated-orcid":false,"given":"Tolulope","family":"Tolufase","sequence":"additional","affiliation":[{"name":"Paediatrics, Burton District Hospital, Burton upon Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Promise","family":"Firi","sequence":"additional","affiliation":[{"name":"Paediatrics, Burton District Hospital, Burton upon Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikesh","family":"Mistry","sequence":"additional","affiliation":[{"name":"Radiology, Burton District Hospital, Burton upon Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"2025082707224946000_18.5.e265278.1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.2147\/HMER.S201630","article-title":"Lysosomal acid lipase deficiency - early diagnosis is the key","volume":"11","author":"Strebinger","year":"2019","journal-title":"Hepat Med"},{"key":"2025082707224946000_18.5.e265278.2","unstructured":"Wilson DP , Patni N . 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