{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T23:00:30Z","timestamp":1767913230821,"version":"3.49.0"},"reference-count":17,"publisher":"Japan Society for Clinical Immunology","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Jpn.J.clin.Immun","Jpn. J. Clin. Immunol."],"published-print":{"date-parts":[[2017]]},"DOI":"10.2177\/jsci.40.131","type":"journal-article","created":{"date-parts":[[2017,6,11]],"date-time":"2017-06-11T22:15:06Z","timestamp":1497219306000},"page":"131-137","source":"Crossref","is-referenced-by-count":1,"title":["A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis"],"prefix":"10.2177","volume":"40","author":[{"given":"Yuriko","family":"YAMASHITA","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Matsudo City Hospital Children's Medical Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinsuke","family":"MATSUMOTO","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Matsudo City Hospital Children's Medical Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryugo","family":"HIRAMOTO","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Matsudo City Hospital Children's Medical Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isao","family":"KOMORI","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Matsudo City Hospital Children's Medical Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"TANAKA","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kyoto University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuta","family":"NISHIKOMORI","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kyoto University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"HEIKE","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kyoto University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichiro","family":"UMETSU","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayano","family":"INUI","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"972","reference":[{"key":"1","unstructured":"1) Houten, S.M., et al.: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. <i>Nat Ganet<\/i>. <b>22<\/b>: 175-177, 1999."},{"key":"2","unstructured":"2) Prasad, C., et al.: Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. <i>Mol Ganet Metab<\/i>. <b>107<\/b>: 756-759, 2012."},{"key":"3","unstructured":"3) \u9152\u4e95\u79c0\u653f\uff0c\u5e73\u5bb6\u4fca\u7537\uff1a\u65e5\u672c\u306b\u304a\u3051\u308b\u9ad8IgD\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u3068\u5c55\u671b\uff0e\u65e5\u81e8\u514d\u4f1a\u8a8c\uff0e<b>34<\/b>: 382-387, 2011."},{"key":"4","unstructured":"4) Akula, M.K., et al.: Control of the innate immune response by the mevalonate pathway. <i>Nat Immunol<\/i>. <b>17<\/b>: 922-929, 2016."},{"key":"5","unstructured":"5) Hinson, D.D., et al.: Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. <i>Am J Med Genet<\/i>. <b>78<\/b>: 408-412, 1998."},{"key":"6","unstructured":"6) Topaloglu, R., et al.: Hyparimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. <i>Clin Rheumatol<\/i>. <b>27<\/b>: 1317-1320, 2008."},{"key":"7","unstructured":"7) Tahara, M., et al.: Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. <i>Mod Rheumatol<\/i>. <b>21<\/b>: 641-645, 2011."},{"key":"8","unstructured":"8) Leyva-Vaga, M., et al.: Significant liver disease in a patient with Y116H mutation in the MVK gene. <i>Am J Med Genet Part A<\/i>. <b>155<\/b>: 1461-1464, 2011."},{"key":"9","doi-asserted-by":"publisher","unstructured":"9) von Linstow, M.L., Rosenfeldt, V.: Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia D syndrome. <i>Case Rep Pediatr<\/i>. 2014, doi:10.1155\/2014\/936890.","DOI":"10.1155\/2014\/936890"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10) Peciuliene S., et al.: Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. <i>Pediatr Rheumatol online J<\/i>. 2016. doi:10.1186\/s12969-016-0081-9.","DOI":"10.1186\/s12969-016-0081-9"},{"key":"11","unstructured":"11) Hogenboom, S., et al.: Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. <i>J Lipid Res<\/i>. <b>43<\/b>: 90-98, 2002."},{"key":"12","unstructured":"12) Hoffmann, G.F., et al.: Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. <i>Pediatrics<\/i>. <b>91<\/b>: 915-921, 1993."},{"key":"13","unstructured":"13) Samkari, A., et al.: A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. <i>Pediatrics<\/i>. <b>125<\/b>: e964, 2010."},{"key":"14","unstructured":"14) Kanungo, S., et al.: Sterol metabolism disorders and neurodevelopment. <i>Dev Disabil Res Rev<\/i>. <b>17<\/b>: 197-210, 2013."},{"key":"15","unstructured":"15) Valtyr, S., et al.: Periodic fever in MVK deficiency: A patient initially diagnosed with incomplete Kawasaki disease. <i>Pediatrics<\/i>. <b>133<\/b>: e461, 2014."},{"key":"16","unstructured":"16) ter Haar, N.M., et al.: Recommendations for the management of autoinflamatory diseases. <i>Ann Rheum Dis<\/i>. <b>74<\/b>: 1636-1644, 2015."},{"key":"17","unstructured":"17) Bodar, E.J., et al.: On-demand anakinra treatment is effective in mevalonate kinase deficiency. <i>Ann Rheum Dis<\/i>. <b>70<\/b>: 2155-2158, 2011."}],"container-title":["Japanese Journal of Clinical Immunology"],"original-title":["\u80ce\u5150\u6c34\u816b\u3068\u65b0\u751f\u5150\u671f\u306e\u80c6\u6c41\u3046\u3063\u6ede\u6027\u809d\u6a5f\u80fd\u969c\u5bb3\u3092\u8a8d\u3081\uff0c6\u6b73\u3067\u30e1\u30d0\u30ed\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3068\u8a3a\u65ad\u3067\u304d\u305f\u5973\u5150\u4f8b"],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jsci\/40\/2\/40_131\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T22:17:39Z","timestamp":1569449859000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jsci\/40\/2\/40_131\/_article\/-char\/ja\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.2177\/jsci.40.131","relation":{},"ISSN":["0911-4300","1349-7413"],"issn-type":[{"value":"0911-4300","type":"print"},{"value":"1349-7413","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}