{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T03:42:50Z","timestamp":1790826170994,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,27]],"date-time":"2010-11-27T00:00:00Z","timestamp":1290816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with Niemann\u2010Pick disease, but foamy Gaucher cells (GC) were previously reported only once, in the autopsy report. Although the majority of stored glucocerebroside in GC is of erythrocyte origin, apparent erythrophagocytosis by GC in bone marrow is an unusual finding. Here, we describe the case of an adult non\u2010Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A&gt;G and c.1448T&gt;C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. Approximately 15% of his GC showed a notable erythrophagocytic activity or unusual appearance of foamy transformed macrophages with a great number of vacuoles and erythrocyte rests in the cytoplasm. This report highlights the fact that morphological examination of cells and tissue specimens is very helpful in the diagnosis of a storage disorder but that confirmatory testing for specific diseases should always follow. Moreover, it is now clear that Gaucher disease should be a part of the differential diagnosis of foamy transformed macrophages.<\/jats:p>","DOI":"10.1007\/s10545-010-9241-0","type":"journal-article","created":{"date-parts":[[2010,11,26]],"date-time":"2010-11-26T07:18:08Z","timestamp":1290755888000},"page":"233-235","source":"Crossref","is-referenced-by-count":29,"title":["Gaucher disease with foamy transformed macrophages and erythrophagocytic activity"],"prefix":"10.1002","volume":"34","author":[{"given":"Maciej","family":"Machaczka","sequence":"first","affiliation":[{"name":"Hematology Center Karolinska, M54 Karolinska University Hospital Huddinge Stockholm SE\u2010141 86 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Klimkowska","sequence":"additional","affiliation":[{"name":"Department of Pathology Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Regenthal","sequence":"additional","affiliation":[{"name":"Department of Pathology Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"H\u00e4gglund","sequence":"additional","affiliation":[{"name":"Hematology Center Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,27]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.5858\/2004-128-1191-EIGC"},{"issue":"6","key":"e_1_2_2_3_1","first-page":"595","article-title":"Splenomegaly (type Gaucher) and lipoid\u2010histiocytosis (type Niemann)","volume":"1","author":"Bloom W","year":"1925","journal-title":"Am J Pathol"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(70)80006-5"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80356-0"},{"issue":"1","key":"e_1_2_2_6_1","first-page":"47","article-title":"Foamy transformed Gaucher cells","volume":"138","author":"Elleder M","year":"1992","journal-title":"Zentralbl Pathol"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(67)90070-8"},{"key":"e_1_2_2_8_1","first-page":"99","volume-title":"Lysosomal storage disorders. Principles and practice","author":"Pastores GM","year":"2010"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01954507"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9241-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9241-0","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9241-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:48:24Z","timestamp":1694807304000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9241-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,27]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1007\/s10545-010-9241-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9241-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,27]]}}}