{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T13:32:46Z","timestamp":1780061566445,"version":"3.54.0"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T00:00:00Z","timestamp":1595548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The National Key Research and Development Program of China","award":["2016YFC0905102"],"award-info":[{"award-number":["2016YFC0905102"]}]},{"name":"The National Key Research and Development Program of China","award":["2016YFC0901500"],"award-info":[{"award-number":["2016YFC0901500"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the <jats:italic>ASAH1<\/jats:italic> gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25\u2010year\u2010old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the <jats:italic>ASAH1<\/jats:italic> gene (c.427T&gt;G and c.358G&gt;C). Further research is needed to elucidate the pathophysiological course.<\/jats:p>","DOI":"10.1002\/ajmg.a.61752","type":"journal-article","created":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T13:40:35Z","timestamp":1595598035000},"page":"2184-2186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Farber disease in a patient from China"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7833-4815","authenticated-orcid":false,"given":"Xudong","family":"Bao","sequence":"first","affiliation":[{"name":"Chinese Academy of Medical Science, Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingsheng","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking Union Medical College Hospital, Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenjie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking Union Medical College Hospital, Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiwen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking Union Medical College Hospital, Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengqing","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking Union Medical College Hospital, Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39659"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1546-0096-5-15"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00714300"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/82.4.675"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0845-z"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61752","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61752","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61752","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T06:01:29Z","timestamp":1744956089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,24]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/ajmg.a.61752"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61752","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,24]]},"assertion":[{"value":"2020-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}