{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:53:12Z","timestamp":1786978392638,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100013318","name":"Shanxi Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["20210302123245"],"award-info":[{"award-number":["20210302123245"]}],"id":[{"id":"10.13039\/501100013318","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>\n                      Riboflavin\u2010responsive multiple acyl\u2010CoA dehydrogenase deficiency (RR\u2010MADD) is an autosomal recessive disease chiefly caused by variants of\n                      <jats:italic>ETFDH<\/jats:italic>\n                      affecting fatty acid metabolism. In our cohort, hyperhomocysteinemia (HHcy) was common. In this study we aimed to identify the association between RR\u2010MADD and HHcy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective review of 13 patients with RR\u2010MADD. Thirty\u2010three healthy controls were recruited, and logistic regression was used to investigate the association between RR\u2010MADD and HHcy. Muscle tissues from six patients and six controls without myopathies were collected to measure the levels of flavin adenine dinucleotide (FAD), an active form of riboflavin. Whole\u2010exome sequencing was performed to identify the disease\u2010associated variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The RR\u2010MADD patients had a higher prevalence of HHcy (9 of 12) than controls (6 of 33,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u2009.001). In the multivariate analysis, RR\u2010MADD was positively related to HHcy (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u2009.014). Muscular FAD levels were decreased in RR\u2010MADD patients (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u2009.006). Thirteen variants (8 reported and 5 novel) were identified in\n                      <jats:italic>ETFDH.<\/jats:italic>\n                      Of these, c.250G\u2009&gt;\u2009A was the most common pathogenic variant with an allelic frequency of 4 of 20.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>HHcy was associated with RR\u2010MADD and may aid in the diagnosis of the disease. Our findings expand the mutational spectrum of RR\u2010MADD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.27960","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T09:27:28Z","timestamp":1692696448000},"page":"750-757","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hyperhomocysteinemia in patients with riboflavin\u2010responsive multiple\n                    <scp>acyl\u2010CoA<\/scp>\n                    dehydrogenase deficiency"],"prefix":"10.1002","volume":"68","author":[{"given":"Huiqiu","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"},{"name":"First Clinical Medical College, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongjuan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"},{"name":"First Clinical Medical College, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingfei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"},{"name":"First Clinical Medical College, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueli","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhong","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4434-5599","authenticated-orcid":false,"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology First Hospital, Shanxi Medical University  Taiyuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910\u2010010\u20100154\u2010y"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/1756286419843359"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/10409238.2021.1908952"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010013\u20109671\u20106"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25338"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds175"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/77.6.1352"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/46.8.1065"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/73.3.613"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20010231"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0378\u20104347(00)00087\u20106"},{"key":"e_1_2_11_13_1","first-page":"692","article-title":"Application 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Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T03:37:44Z","timestamp":1697427464000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,22]]},"references-count":28,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/mus.27960"],"URL":"https:\/\/doi.org\/10.1002\/mus.27960","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,22]]},"assertion":[{"value":"2023-03-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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