{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:26:28Z","timestamp":1760660788030,"version":"build-2065373602"},"reference-count":47,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Carlos III Research Institute","award":["IIS16\/0114","PI13\/02507","PI15\/01983"],"award-info":[{"award-number":["IIS16\/0114","PI13\/02507","PI15\/01983"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Nutritional Biochemistry"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.jnutbio.2017.10.005","type":"journal-article","created":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T20:47:09Z","timestamp":1511815629000},"page":"48-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"special_numbering":"C","title":["Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight"],"prefix":"10.1016","volume":"53","author":[{"given":"Luc\u00eda","family":"Baila-Rueda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Cenarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itziar","family":"Lamiquiz-Moneo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sof\u00eda","family":"Perez-Calahorra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana M.","family":"Bea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Marco-Bened\u00ed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9142-0737","authenticated-orcid":false,"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":"Fernando","family":"Civeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jnutbio.2017.10.005_bb0005","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.atherosclerosis.2003.11.010","article-title":"International panel on management of familial hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia","volume":"173","author":"Civeira","year":"2004","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0010","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.atherosclerosis.2011.12.021","article-title":"Molecular characterization of familial hypercholesterolemia in Spain","volume":"221","author":"Palacios","year":"2012","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0015","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.atherosclerosis.2013.04.011","article-title":"Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic","volume":"229","author":"Futema","year":"2013","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0020","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.2007.00915.x","article-title":"Genetic heterogeneity of autosomal dominant hypercholesterolemia","volume":"73","author":"Varret","year":"2008","journal-title":"Clin Genet"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0025","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1172\/JCI107332","article-title":"Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia","volume":"52","author":"Goldstein","year":"1973","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0030","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1016\/j.jacl.2016.08.011","article-title":"Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: frequencies, associations and predictions","volume":"10","author":"Ellis","year":"2016","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0035","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmedgenet-2014-102405","article-title":"Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR\/APOB\/PCSK9 mutations","volume":"51","author":"Futema","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0040","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1016\/S0140-6736(12)62127-8","article-title":"Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case\u2013control study","volume":"381","author":"Talmud","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0045","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1016\/j.jacl.2016.09.011","article-title":"Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE","volume":"10","author":"Jarauta","year":"2016","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0050","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/nrendo.2012.15","article-title":"The genetics of familial combined hyperlipidaemia","volume":"8","author":"Brouwers","year":"2012","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0055","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/MOL.0000000000000270","article-title":"Combined hyperlipidemia: familial but not (usually) monogenic","volume":"27","author":"Brahm","year":"2016","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0060","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S1665-2681(19)31949-0","article-title":"Biliary secretion and excretion in health and disease: current concepts","volume":"6","author":"Hofmann","year":"2007","journal-title":"Ann Hepatol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0065","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/MOG.0000000000000156","article-title":"Bile acids as metabolic regulators","volume":"31","author":"Li","year":"2015","journal-title":"Curr Opin Gastroenterol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0070","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1159\/000282091","article-title":"Bile acids as regulators of hepatic lipid and glucose metabolism","volume":"28","author":"Trauner","year":"2010","journal-title":"Dig Dis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0075","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1126\/science.1093131","article-title":"Niemann-pick C1 like 1 protein is critical for intestinal cholesterol absorption","volume":"303","author":"Altmann","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0080","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1093\/ajcn\/43.1.92","article-title":"Serum plant sterols and their relation to cholesterol absorption","volume":"43","author":"Tilvis","year":"1986","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0085","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1093\/oxfordjournals.aje.a115479","article-title":"Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population","volume":"131","author":"Miettinen","year":"1990","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0090","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.atherosclerosis.2007.08.003","article-title":"The validity of serum squalene and non-cholesterol sterols as surrogate markers of cholesterol synthesis and absorption in type 2 diabetes","volume":"197","author":"Simonen","year":"2008","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0095","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.numecd.2011.05.005","article-title":"The role of serum non-cholesterol sterols as surrogate markers of absolute cholesterol synthesis and absorption","volume":"21","author":"Miettinen","year":"2011","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0100","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1097\/MOL.0000000000000069","article-title":"Clinical utility of serum markers of cholesterol absorption and synthesis","volume":"25","author":"Gylling","year":"2014","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0105","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/0026-0495(89)90252-7","article-title":"Serum cholestanol and plant sterol levels in relation to cholesterol metabolism in middle-aged men","volume":"38","author":"Miettinen","year":"1989","journal-title":"Metabolism"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0110","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1194\/jlr.D200043-JLR200","article-title":"Monitoring hepatic cholesterol 7 alpha-hydroxylase activity by assay of the stable bile acid intermediate 7 alpha-hydroxy-4-cholesten-3-one in peripheral blood","volume":"44","author":"G\u00e4lman","year":"2003","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0115","doi-asserted-by":"crossref","first-page":"804","DOI":"10.3109\/00365529609010356","article-title":"Relationship between the serum concentration of 7 alpha-hydroxycholesterol and fecal bile acid excretion in humans","volume":"31","author":"Hahn","year":"1996","journal-title":"Scand J Gastroenterol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0120","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1016\/S0022-2275(20)42108-X","article-title":"Esterified and total 7 alpha-hydroxycholesterol in human serum as an indicator for hepatic bile acid synthesis","volume":"31","author":"Oda","year":"1990","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0125","first-page":"123","article-title":"Serum concentrations of 7 alpha-hydroxy-4-cholesten-3-one reflect bile acid synthesis in humans","volume":"24","author":"Sauter","year":"1996","journal-title":"Hepatology"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0130","doi-asserted-by":"crossref","first-page":"3667","DOI":"10.1210\/jc.2006-2567","article-title":"Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes","volume":"92","author":"Garc\u00eda-Ot\u00edn","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0135","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.numecd.2010.05.010","article-title":"Non-cholesterol sterols in different forms of primary hyperlipemias","volume":"22","author":"Lupattelli","year":"2012","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0140","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1161\/01.ATV.13.7.1110","article-title":"Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia","volume":"13","author":"Venkatesan","year":"1993","journal-title":"Arterioscler Thromb"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0145","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1161\/ATVBAHA.109.196550","article-title":"Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway","volume":"30","author":"van Himbergen","year":"2010","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0150","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.numecd.2010.01.005","article-title":"Association of plasma markers of cholesterol homeostasis with metabolic syndrome components. A cross-sectional study","volume":"21","author":"Cof\u00e1n","year":"2011","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0155","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.2337\/diacare.25.9.1511","article-title":"Diabetes contributes to cholesterol metabolism regardless of obesity","volume":"25","author":"Simonen","year":"2002","journal-title":"Diabetes Care"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0160","first-page":"163","article-title":"Five-year incidence of type 2 diabetes mellitus in patients with familial combined hyperlipidaemia","volume":"68","author":"Brouwers","year":"2010","journal-title":"Neth J Med"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0165","first-page":"730","article-title":"Lipid profile of the Spanish population: the DRECE (diet and risk of cardiovascular disease in Spain) study. DRECE study group","volume":"113","author":"G\u00f3mez-Gerique","year":"1999","journal-title":"Med Clin (Barc)"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0170","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1016\/j.jacc.2008.06.050","article-title":"Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting","volume":"52","author":"Civeira","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0175","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.atherosclerosis.2012.03.011","article-title":"Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia","volume":"222","author":"Solanas-Barca","year":"2012","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0180","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.jmoldx.2013.01.005","article-title":"A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe","volume":"15","author":"Stef","year":"2013","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0185","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.1039\/c3ay26395a","article-title":"Simultaneous determination of oxysterols, phytosterols and cholesterol precursors by high performance liquid chromatography tandem mass spectrometry in human serum","volume":"5","author":"Baila-Rueda","year":"2013","journal-title":"Anal Methods"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0190","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/ajcn\/72.1.82","article-title":"Introducing a new component of the metabolic syndrome: low cholesterol absorption","volume":"72","author":"Simonen","year":"2000","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0195","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1161\/01.ATV.0000082461.77557.C7","article-title":"Effects of insulin resistance and obesity on lipoproteins and sensitivity to egg feeding","volume":"23","author":"Knopp","year":"2003","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0200","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3945\/jn.114.191775","article-title":"Serum lipid responses to weight loss differ between overweight adults with familial hypercholesterolemia and those with familial combined hyperlipidemia","volume":"144","author":"Mateo-Gallego","year":"2014","journal-title":"J Nutr"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0205","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1161\/01.ATV.21.4.567","article-title":"Relationship of insulin sensitivity and ApoB levels to intra-abdominal fat in subjects with familial combined hyperlipidemia","volume":"21","author":"Purnell","year":"2001","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0210","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1161\/01.ATV.0000160612.18065.29","article-title":"Role of insulin resistance in familial combined hyperlipidemia","volume":"25","author":"Veerkamp","year":"2005","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0215","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.atherosclerosis.2016.01.005","article-title":"Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes","volume":"246","author":"Baila-Rueda","year":"2016","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0220","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1161\/01.CIR.0000081777.17879.85","article-title":"Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case\u2013control comparison from the National Heart, Lung, and Blood Institute family heart study","volume":"108","author":"Hopkins","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0225","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1097\/01.mol.0000226121.27931.3f","article-title":"Genetics of familial combined hyperlipidemia","volume":"3","author":"Naukkarinen","year":"2006","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0230","first-page":"62","article-title":"TCF7L2 is associated with high serum triacylglycerol and differentially expressed in adipose tissue in families with familial combined hyperlipidaemia","volume":"1","author":"Huertas-Vazquez","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.jnutbio.2017.10.005_bb0235","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1161\/ATVBAHA.107.160150","article-title":"Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia","volume":"6","author":"Mar-Heyming","year":"2008","journal-title":"Arterioscler Thromb Vasc Biol"}],"container-title":["The Journal of Nutritional Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0955286317305077?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0955286317305077?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T15:23:38Z","timestamp":1760628218000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0955286317305077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":47,"alternative-id":["S0955286317305077"],"URL":"https:\/\/doi.org\/10.1016\/j.jnutbio.2017.10.005","relation":{},"ISSN":["0955-2863"],"issn-type":[{"type":"print","value":"0955-2863"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight","name":"articletitle","label":"Article Title"},{"value":"The Journal of Nutritional Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jnutbio.2017.10.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}