{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:33:20Z","timestamp":1786980800045,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"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":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The major cause of lipid storage myopathies (LSM) in China is multiple acyl\u2010CoA dehydrogenase deficiency (MADD) caused by\n                    <jats:italic>ETFDH<\/jats:italic>\n                    mutations. We here present an analysis of the spectrum of\n                    <jats:italic>ETFDH<\/jats:italic>\n                    mutations in the largest cohort of patients with MADD (90 unrelated patients). We identified 61\n                    <jats:italic>ETFDH<\/jats:italic>\n                    mutations, including 31 novel mutations, which were widely distributed within the coding sequence. Three frequent mutations were identified: c.250G\u2009&gt;\u2009A (most common in South China), c.770A\u2009&gt;\u2009G and c.1227A\u2009&gt;\u2009C (most common in both South and North China). Regional differences of allele frequency and further haplotype analysis suggest the possibility of founder effects of c.250G\u2009&gt;\u2009A and c.770A\u2009&gt;\u2009G. These findings promise to provide the basis for implementing a rapid and economical strategy for diagnosing MADD.\n                  <\/jats:p>","DOI":"10.1007\/s10545-013-9671-6","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T10:28:34Z","timestamp":1387448914000},"page":"399-404","source":"Crossref","is-referenced-by-count":81,"title":["Clinical features and\n                    <i>ETFDH<\/i>\n                    mutation spectrum in a cohort of 90 Chinese patients with late\u2010onset multiple acyl\u2010CoA dehydrogenase deficiency"],"prefix":"10.1002","volume":"37","author":[{"given":"Jianying","family":"Xi","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Qilu Hospital Shandong University Jinan 250012 China"},{"name":"Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute Shandong University Jinan 250012 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhua","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chongbo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duoling","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Qilu Hospital Shandong University Jinan 250012 China"},{"name":"Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute Shandong University Jinan 250012 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Qilu Hospital Shandong University Jinan 250012 China"},{"name":"Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute Shandong University Jinan 250012 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University Shanghai 200040 China"},{"name":"Institute of Neurology, Huashan Hospital Fudan University Shanghai 2000040 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanzhu","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Qilu Hospital Shandong University Jinan 250012 China"},{"name":"Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute Shandong University Jinan 250012 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-12-105"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/BOR.0b013e328315a05b"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2010.01.033"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6807-11-43"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.13.4517"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00138-5"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M805719200"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929866053005782"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00741-0"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01421.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.02.015"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.008"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2006.03.032"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21167"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10226"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000042986.10291.e9"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm135"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.01.009"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/319501"},{"key":"e_1_2_8_22_1","first-page":"309","article-title":"The hot spot mutations in ETFDH gene of riboflavin responsive lipid storage myopathy in 20 Chinese families","volume":"44","author":"Wang Y","year":"2011","journal-title":"Chin J Neurol (Chinese)"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-011-0725-7"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.05.018"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2010.10.007"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.176404"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.01.002"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-013-9671-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:22:20Z","timestamp":1694740940000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-013-9671-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,20]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1007\/s10545-013-9671-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-013-9671-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,20]]}}}