{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:22:05Z","timestamp":1765232525025},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12967-018-1380-3","type":"journal-article","created":{"date-parts":[[2018,1,15]],"date-time":"2018-01-15T07:53:16Z","timestamp":1516002796000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia"],"prefix":"10.1186","volume":"16","author":[{"given":"Luc\u00eda","family":"Baila-Rueda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itziar","family":"Lamiquiz-Moneo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Est\u00edbaliz","family":"Jarauta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roc\u00edo","family":"Mateo-Gallego","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sof\u00eda","family":"Perez-Calahorra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Marco-Bened\u00ed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana M.","family":"Bea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Cenarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Civeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,1,15]]},"reference":[{"key":"1380_CR1","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1016\/0002-9343(64)90196-2","volume":"37","author":"AK Khachadurian","year":"1964","unstructured":"Khachadurian AK. The inheritance of essential familial hypercholesterolemia. Am J Med. 1964;37:402\u20137.","journal-title":"Am J Med"},{"key":"1380_CR2","first-page":"2863","volume-title":"The Metabolic and molecular bases of inherited disease","author":"JL Goldstein","year":"2001","unstructured":"Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 2863\u2013913."},{"key":"1380_CR3","doi-asserted-by":"publisher","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","volume":"34","author":"BG Nordestgaard","year":"2013","unstructured":"Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Bor\u00e9n J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR. Tybj\u00e6rg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34:3478\u201390.","journal-title":"Eur Heart J"},{"key":"1380_CR4","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1161\/01.CIR.92.3.290","volume":"92","author":"J Ferrieres","year":"1995","unstructured":"Ferrieres J, Lambert J, Lussier-Cacan S, Davignon J. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation. 1995;92:290\u20135.","journal-title":"Circulation"},{"key":"1380_CR5","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/ncpcardio0941","volume":"4","author":"GF Watts","year":"2007","unstructured":"Watts GF, Lewis B, Sullivan DR. Familial hypercholesterolemia: a missed opportunity in preventive medicine. Nat Clin Pract Cardiovasc Med. 2007;4:404\u20135.","journal-title":"Nat Clin Pract Cardiovasc Med."},{"key":"1380_CR6","first-page":"311","volume":"121","author":"HS Kruth","year":"1985","unstructured":"Kruth HS. Lipid deposition in human tendon xanthoma. Am J Pathol. 1985;121:311\u20135.","journal-title":"Am J Pathol"},{"key":"1380_CR7","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1016\/j.amjcard.2008.06.056","volume":"102","author":"F Civeira","year":"2008","unstructured":"Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, Martinez de Esteban JP, Ferrando J, Zabala S, Almagro F, Gimeno JA, Masana L, Pocovi M. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol. 2008;102:1187\u201393.","journal-title":"Am J Cardiol"},{"key":"1380_CR8","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1139\/O09-006","volume":"87","author":"P Mart\u00edn-Fuentes","year":"2009","unstructured":"Mart\u00edn-Fuentes P, Civeira F, Solanas-Barca M, Garc\u00eda-Ot\u00edn AL, Jarauta E, Cenarro A. Overexpression of the CXCL3 gene in response to oxidized low density lipoprotein is associated with the presence of tendon xanthomas in familial hypercholesterolemia. Biochem Cell Biol. 2009;87:493\u20138.","journal-title":"Biochem Cell Biol"},{"key":"1380_CR9","doi-asserted-by":"publisher","first-page":"2146","DOI":"10.1093\/eurheartj\/ehu274","volume":"35","author":"M Cuchel","year":"2014","unstructured":"Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybj\u00e6rg-Hansen A, Watts GF, Averna M, Boileau C, Bor\u00e9n J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ, European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35:2146\u201357.","journal-title":"Eur Heart J"},{"key":"1380_CR10","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1161\/01.ATV.0000177811.14176.2b","volume":"25","author":"F Civeira","year":"2005","unstructured":"Civeira F, Castillo S, Alonso R, Meri\u00f1o-Ibarra E, Cenarro A, Artieda M, Mart\u00edn-Fuentes P, Ros E, Pocov\u00ed M, Mata P, Spanish Familial Hypercholesterolemia Group. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005;25:1960\u20135.","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"1380_CR11","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1111\/1523-1747.ep12507376","volume":"78","author":"BJ Vermeer","year":"1982","unstructured":"Vermeer BJ, Mateysen AA, van Gent CM, van Sabben RM, Emeis JJ. The lipid composition and localization of free and esterified cholesterol in different types of xanthomas. J Invest Dermatol. 1982;78:305\u20138.","journal-title":"J Invest Dermatol"},{"key":"1380_CR12","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.atherosclerosis.2009.04.009","volume":"207","author":"DM Oosterveer","year":"2009","unstructured":"Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJ. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. Atherosclerosis. 2009;207:311\u20137.","journal-title":"Atherosclerosis"},{"key":"1380_CR13","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1172\/JCI107640","volume":"53","author":"AK Bhattacharyya","year":"1974","unstructured":"Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974;53:1033\u201343.","journal-title":"J Clin Invest"},{"key":"1380_CR14","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1172\/JCI107688","volume":"53","author":"T Setoguchi","year":"1974","unstructured":"Setoguchi T, Salen G, Tint GS, Mosbach EH. A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. J Clin Invest. 1974;53:1393\u2013401.","journal-title":"J Clin Invest"},{"key":"1380_CR15","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1016\/j.numecd.2015.06.008","volume":"25","author":"L Baila-Rueda","year":"2015","unstructured":"Baila-Rueda L, Mateo-Gallego R, P\u00e9rez-Calahorra S, Lamiquiz-Moneo I, de Castro-Or\u00f3s I, Cenarro A, Civeira F. Effect of different fat-enriched meats on non-cholesterol sterols and oxysterols as markers of cholesterol metabolism: results of a randomized and cross-over clinical trial. Nutr Metab Cardiovasc Dis. 2015;25:853\u20139.","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"1380_CR16","first-page":"730","volume":"113","author":"JA G\u00f3mez-Gerique","year":"1999","unstructured":"G\u00f3mez-Gerique JA, Guti\u00e9rrez-Fuentes JA, Montoya MT, Porres A, Rueda A, Avellaneda A, Rubio MA. Lipid profile of the Spanish population: the DRECE (diet and risk of cardiovascular disease in Spain) study. DRECE study group. Med Clin (Barc). 1999;113:730\u20135.","journal-title":"Med Clin (Barc)"},{"key":"1380_CR17","doi-asserted-by":"publisher","first-page":"2203","DOI":"10.1161\/01.ATV.0000183888.48105.d1","volume":"25","author":"M Junyent","year":"2005","unstructured":"Junyent M, Gilabert R, Zambon D, N\u00fa\u00f1ez I, Vela M, Civeira F, Pocov\u00ed M, Ros E. The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias. Arterioscler Thromb Vasc Biol. 2005;25:2203\u20138.","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"1380_CR18","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/j.atherosclerosis.2012.03.011","volume":"222","author":"M Solanas-Barca","year":"2012","unstructured":"Solanas-Barca M, de Castro-Or\u00f3s I, Mateo-Gallego R, Cof\u00e1n M, Plana N, Puzo J, Burillo E, Mart\u00edn-Fuentes P, Ros E, Masana L, Pocov\u00ed M, Civeira F, Cenarro A. Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. Atherosclerosis. 2012;222:449\u201355.","journal-title":"Atherosclerosis"},{"key":"1380_CR19","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.jmoldx.2013.01.005","volume":"15","author":"MA Stef","year":"2013","unstructured":"Stef MA, Palacios L, Olano-Mart\u00edn E, Foe-A-Man C, van de Kerkhof L, Klaaijsen LN, Molano A, Schuurman EJ, Tejedor D, Defesche JC. A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe. J Mol Diagn. 2013;15:362\u201372.","journal-title":"J Mol Diagn"},{"key":"1380_CR20","doi-asserted-by":"publisher","first-page":"2249","DOI":"10.1039\/c3ay26395a","volume":"5","author":"L Baila-Rueda","year":"2013","unstructured":"Baila-Rueda L, Cenarro A, Cofan M, Orera I, Barcelo-Batllori S, Pocovi M, Ros E, Civeira F, Nerin C, Domeno C. Simultaneous determination of oxysterols, phytosterols and cholesterol precursors by high performance liquid chromatography tandem mass spectrometry in human serum. Anal Methods. 2013;5:2249\u201357.","journal-title":"Anal Methods"},{"key":"1380_CR21","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.atherosclerosis.2016.01.005","volume":"246","author":"L Baila-Rueda","year":"2016","unstructured":"Baila-Rueda L, P\u00e9rez-Ruiz MR, Jarauta E, Tejedor MT, Mateo-Gallego R, Lamiquiz-Moneo I, de Castro-Or\u00f3s I, Cenarro A, Civeira F. Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes. Atherosclerosis. 2016;246:202\u20137.","journal-title":"Atherosclerosis"},{"key":"1380_CR22","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1016\/j.jacl.2016.09.011","volume":"10","author":"E Jarauta","year":"2016","unstructured":"Jarauta E, P\u00e9rez-Ruiz MR, P\u00e9rez-Calahorra S, Mateo-Gallego R, Cenarro A, Cof\u00e1n M, Ros E, Civeira F, Tejedor MT. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE. J Clin Lipidol. 2016;10:1397\u2013405.","journal-title":"J Clin Lipidol"},{"key":"1380_CR23","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1093\/oxfordjournals.aje.a115479","volume":"131","author":"TA Miettinen","year":"1990","unstructured":"Miettinen TA, Tilvis RS, Kes\u00e4niemi YA. Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am J Epidemiol. 1990;131:20\u201331.","journal-title":"Am J Epidemiol"},{"key":"1380_CR24","doi-asserted-by":"publisher","first-page":"262","DOI":"10.4330\/wjc.v2.i9.262","volume":"2","author":"S Dwivedi","year":"2010","unstructured":"Dwivedi S, Jhamb R. Cutaneous markers of coronary artery disease. World J Cardiol. 2010;2:262\u20139.","journal-title":"World J Cardiol"},{"key":"1380_CR25","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.atherosclerosis.2009.07.031","volume":"208","author":"DS Lin","year":"2010","unstructured":"Lin DS, Steiner RD, Merkens LS, Pappu AS, Connor WE. The effects of sterol structure upon sterol esterification. Atherosclerosis. 2010;208:155\u201360.","journal-title":"Atherosclerosis"},{"key":"1380_CR26","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1093\/eurheartj\/ehp538","volume":"31","author":"DM Oosterveer","year":"2010","unstructured":"Oosterveer DM, Versmissen J, Yazdanpanah M, Defesche JC, Kastelein JJ, Sijbrands EJ. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. Eur Heart J. 2010;31:1007\u201312.","journal-title":"Eur Heart J"},{"key":"1380_CR27","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1139\/O09-006","volume":"87","author":"P Mart\u00edn-Fuentes","year":"2009","unstructured":"Mart\u00edn-Fuentes P, Civeira F, Solanas-Barca M, Garc\u00eda-Ot\u00edn AL, Jarauta E, Cenarro A. Overexpression of the CXCL3 gene in response to oxidized low-density lipoprotein is associated with the presence of tendon xanthomas in familial hypercholesterolemia. Biochem Cell Biol. 2009;87:493\u20138.","journal-title":"Biochem Cell Biol"},{"key":"1380_CR28","doi-asserted-by":"publisher","first-page":"4503","DOI":"10.1016\/j.febslet.2005.06.087","volume":"579","author":"M Artieda","year":"2005","unstructured":"Artieda M, Cenarro A, Junquera C, Lasierra P, Mart\u00ednez-Lorenzo MJ, Pocov\u00ed M, Civeira F. Tendon xanthomas in familial hypercholesterolemia are\u00a0associated with a differential inflammatory response of macrophages to oxidized LDL. FEBS Lett. 2005;579:4503\u201312.","journal-title":"FEBS Lett"},{"key":"1380_CR29","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/j.arteri.2013.07.005","volume":"25","author":"L Masana","year":"2013","unstructured":"Masana L, Civeira F, Pedro-Botet J, de Castro I, Pocov\u00ed M, Plana N, Mateo-Gallego R, Jarauta E, Pedragosa \u00c0. Expert consensus on the detection and clinical management of familial hypercholesterolemia. Clin Investig Arterioscler. 2013;25:182\u201393.","journal-title":"Clin Investig Arterioscler"},{"key":"1380_CR30","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1080\/00365510510025746","volume":"65","author":"A Babiker","year":"2005","unstructured":"Babiker A, Dzeletovic S, Wiklund B, Pettersson N, Salonen J, Nyyss\u00f6nen K, Eriksson M, Diczfalusy U, Bj\u00f6rkhem I. Patients with atherosclerosis may have increased circulating levels of 27-hydroxycholesterol and cholestenoic acid. Scand J Clin Lab Invest. 2005;65:365\u201375.","journal-title":"Scand J Clin Lab Invest"},{"key":"1380_CR31","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1080\/00365519609168296","volume":"226","author":"U Diczfalusy","year":"1996","unstructured":"Diczfalusy U, Lund E, L\u00fctjohann D, Bj\u00f6rkhem I. Novel pathways for elimination of cholesterol by extrahepatic formation of side-chain oxidized oxysterols. Scand J Clin Lab Invest Suppl. 1996;226:9\u201317.","journal-title":"Scand J Clin Lab Invest Suppl"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-018-1380-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,14]],"date-time":"2019-01-14T19:36:15Z","timestamp":1547494575000},"score":1,"resource":{"primary":{"URL":"https:\/\/translational-medicine.biomedcentral.com\/articles\/10.1186\/s12967-018-1380-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,15]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["1380"],"URL":"https:\/\/doi.org\/10.1186\/s12967-018-1380-3","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,15]]},"assertion":[{"value":"30 October 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 January 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"6"}}