{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T22:38:06Z","timestamp":1761172686930,"version":"build-2065373602"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"FH M\u00fcnster"}],"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>Background<\/jats:title>\n                    <jats:p>Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder of cholesterol biosynthesis. SLOS leads to increased levels of 7-dehydrocholesterol (7-DHC) and decreased levels of total cholesterol (TC). Dietary therapy usually involves supplementation with cholesterol in an oil-based or, less commonly, an aqueous cholesterol suspension. The limited solubility of cholesterol can result in uneven distribution, sedimentation and clumping.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In seven patients (6\u00a0m, 1 f, 1\u201312 years) the previously administered dose of cholesterol was replaced by a newly developed emulsion and primary parameters TC, 7-DHC, HDL, LDL, vitamin D (25; 1\u201325), height and weight were determined. In addition, a personal structured interview was conducted with the caregivers of five participants to determine their satisfaction with the product, the care, and the effects on behaviour and health.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      One patient was excluded due to non-compliance (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u20096). Before the intervention, the mean TC level was 42\u2009\u00b1\u20099\u00a0mg\/dl (min\u2009=\u200929, max\u2009=\u200952;\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095) and increased by at least 95% and at most 299% (163\u2009\u00b1\u200993%). 7-DHC levels showed a decrease of -28% to -96% (-63\u2009\u00b1\u200929%). No effect on anthropometric parameters was observed. Overall, the families were satisfied with the care and the effect of the emulsion was predominantly described as successful. The emulsion and its application were well tolerated with few side effects.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Overall, there was an improved effect on TC and 7-DHC levels compared to standard therapy, with high patient satisfaction and low side effects.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12944-025-02767-4","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T05:24:22Z","timestamp":1761110662000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLOS): A single-center observational study, retrospective analysis and structured caregiver interview"],"prefix":"10.1186","volume":"24","author":[{"given":"Tobias","family":"Fischer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Born","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Harmeling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Fobker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Och","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Elpers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"key":"2767_CR1","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/ejhg.2008.10","volume":"16","author":"FD Porter","year":"2008","unstructured":"Porter FD. 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