{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T17:26:46Z","timestamp":1762622806525},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2002,7,11]],"date-time":"2002-07-11T00:00:00Z","timestamp":1026345600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry's disease is a lipid storage disease caused by an X\u2010linked hereditary deficiency of \u03b1\u2010galactosidase. The enzymatic defect causes progressive deposition of ceramide trihexoside (CTH) in various tissues, leading to renal failure, premature myocardial infarction, and stroke, with a high rate of mortality in younger patients. Among the complications associated with Fabry's disease, a few cases involving avascular necrosis (AVN) of the femoral head have been reported. However, direct evidence of deposition of CTH in bone marrow in the femoral head has not been demonstrated. This report describes a 58\u2010year\u2010old man who underwent total hip arthroplasty for femoral head AVN associated with Fabry's disease. The accumulation of CTH was examined by chemical analysis of the sphingolipid extracted from the femoral head, using delayed\u2010extraction matrix\u2010assisted laser desorption ionization\u2013time\u2010of\u2010flight mass spectrometry. This is the first report confirming the presence of CTH in the sphingolipid fraction from normal and necrotic bone of a patient with Fabry's disease.<\/jats:p>","DOI":"10.1002\/art.10391","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T02:05:28Z","timestamp":1031709928000},"page":"1922-1925","source":"Crossref","is-referenced-by-count":19,"title":["Avascular necrosis of the femoral head in a patient with Fabry's disease: Identification of ceramide trihexoside in the bone by delayed\u2010extraction matrix\u2010assisted laser desorption ionization\u2013time\u2010of\u2010flight mass spectrometry"],"prefix":"10.1002","volume":"46","author":[{"given":"Hiroshi","family":"Horiuchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoto","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seneki","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyoshi","family":"Ota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamotsu","family":"Taketomi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunio","family":"Takaoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,7,11]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_5_3_2","first-page":"871","article-title":"Sur une singuliere malformation familiale de l'epithelium renal","volume":"94","author":"Hamburger J","year":"1964","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90224-7"},{"key":"e_1_2_5_5_2","doi-asserted-by":"crossref","first-page":"471","DOI":"10.3928\/0147-7447-19930401-12","article-title":"Association of Fabry's disease with femoral head avascular necrosis","volume":"16","author":"Ross G","year":"1993","journal-title":"Orthopedics"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1995.658zz.x"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1049"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a130937"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230513"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310410"},{"key":"e_1_2_5_11_2","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.2106\/00004623-198769090-00009","article-title":"Fractures in children who have Gaucher disease","volume":"69","author":"Katz K","year":"1987","journal-title":"J Bone Joint Surg Am"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443393"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01675752"}],"container-title":["Arthritis &amp; Rheumatism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fart.10391","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/art.10391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T21:35:51Z","timestamp":1696973751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/art.10391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/art.10391"],"URL":"https:\/\/doi.org\/10.1002\/art.10391","archive":["Portico"],"relation":{},"ISSN":["0004-3591","1529-0131"],"issn-type":[{"value":"0004-3591","type":"print"},{"value":"1529-0131","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7]]}}}