{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:33:02Z","timestamp":1753885982844},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1995,7,20]],"date-time":"1995-07-20T00:00:00Z","timestamp":806198400000},"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":[[1996,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a case of Farber lipogranulomatosis in a girl with hepatosplenomegaly, macular cherry\u2010red spot, and subcutaneous nodules who developed liver dysfunction with jaundice and ascites, and myelophthisic anaemia because of infiltration of bone marrow with storage cells. Acid ceramidase assay confirmed the diagnosis. We conclude that the bone marrow dysfunction and cherry\u2010red spot are features of type IV Farber lipogranulomatosis that have not been previously recognized, and should be added to the clinical phenotypic description.<\/jats:p>","DOI":"10.1007\/bf01799842","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:38:06Z","timestamp":1119371886000},"page":"655-660","source":"Crossref","is-referenced-by-count":17,"title":["Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case"],"prefix":"10.1002","volume":"19","author":[{"given":"M. J. M.","family":"Nowaczyk","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Feigenbaum","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. M.","family":"Silver","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Callahan","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Levin","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Jay","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pathology, Neurosciences, and Ophthalmology University of Toronto and The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1995,7,20]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81106-3"},{"key":"e_1_2_1_3_1","first-page":"42","article-title":"A case of Farber lipogranulomatosis in a Japanese boy with gastrointestinal involvement","volume":"42","author":"Koga M","year":"1992","journal-title":"Acta Pathol Jpn"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110607"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2050419"},{"key":"e_1_2_1_6_1","first-page":"2589","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Moser H","year":"1989"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8456305"},{"key":"e_1_2_1_8_1","first-page":"111A","article-title":"Heterogeneity of clinical expression of Farber lipogranulomatosis","volume":"35","author":"Pierpont ME","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.178.4065.1100"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1985.01050010077025"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1988.01060140323008"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799842","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799842","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T11:44:31Z","timestamp":1694778271000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799842"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7,20]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1996,9]]}},"alternative-id":["10.1007\/BF01799842"],"URL":"https:\/\/doi.org\/10.1007\/bf01799842","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7,20]]}}}