{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T06:39:38Z","timestamp":1788503978200,"version":"build-2803163510"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T00:00:00Z","timestamp":1710892800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T00:00:00Z","timestamp":1710892800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Lipids Health Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac\/carotid artery ultrasounds, fundus examinations, and treatment were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored\n                      <jats:italic>ABCG5<\/jats:italic>\n                      variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored\n                      <jats:italic>ABCG8<\/jats:italic>\n                      variants (type 1 sitosterolemia). Additionally, the most common pathogenic\n                      <jats:italic>ABCG<\/jats:italic>\n                      5 variant was c.1166G\u2009&gt;\u2009A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying\n                      <jats:italic>ABCG<\/jats:italic>\n                      5 and\n                      <jats:italic>ABCG<\/jats:italic>\n                      8 variations (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0&gt;\u20090.05). Interestingly, there was a greater abundance of nonsense variations in\n                      <jats:italic>ABCG<\/jats:italic>\n                      5 than in\n                      <jats:italic>ABCG<\/jats:italic>\n                      8 (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u20090.09), and a greater frequency of splicing variations in\n                      <jats:italic>ABCG<\/jats:italic>\n                      8 than\n                      <jats:italic>ABCG<\/jats:italic>\n                      5 (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u20090.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Sitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one\u2019s diet and taking ezetimibe can well control blood lipids.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12944-024-02077-1","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T05:06:27Z","timestamp":1710911187000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Gene variants and clinical characteristics of children with sitosterolemia"],"prefix":"10.1186","volume":"23","author":[{"given":"Rui","family":"Gu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Lin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Na","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang-Li","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Qiang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiong","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao-Chun","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,20]]},"reference":[{"issue":"3","key":"2077_CR1","doi-asserted-by":"publisher","first-page":"716","DOI":"10.5740\/jaoacint.SGEAjagbe","volume":"98","author":"BO Ajagbe","year":"2015","unstructured":"Ajagbe BO, Othman RA, Myrie SB. 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