{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T06:39:40Z","timestamp":1788503980054,"version":"build-2803163510"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Zhejiang Province Medical and Health Leading Talent Project","award":["2024"],"award-info":[{"award-number":["2024"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Lipids Health Dis"],"DOI":"10.1186\/s12944-024-02406-4","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T17:15:07Z","timestamp":1735319707000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study"],"prefix":"10.1186","volume":"23","author":[{"given":"Meng-Na","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Cen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Sheng","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Zhu","family":"Chi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Hong","family":"Jiang","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":"Xiao-Quan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Ying","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Ke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Da-Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Xia","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Ming","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Ping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qun-Hua","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen-Jie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Hua","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Qiang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Fen","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao\u2011Chun","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,27]]},"reference":[{"issue":"1","key":"2406_CR1","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1186\/s12944-018-0900-8","volume":"17","author":"D Sun","year":"2018","unstructured":"Sun D, Zhou BY, Li S, et al. Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation. Lipids Health Dis. 2018;17(1):252.","journal-title":"Lipids Health Dis"},{"key":"2406_CR2","doi-asserted-by":"publisher","first-page":"17093","DOI":"10.1038\/nrdp.2017.93","volume":"3","author":"JC Defesche","year":"2017","unstructured":"Defesche JC, Gidding SS, Harada-Shiba M, et al. Familial hypercholesterolemia Nat Rev Dis Primers. 2017;3:17093.","journal-title":"Familial hypercholesterolemia Nat Rev Dis Primers"},{"issue":"2","key":"2406_CR3","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1111\/joim.13577","volume":"293","author":"M Abifadel","year":"2023","unstructured":"Abifadel M, Boileau C. Genetic and molecular architecture of familial hypercholesterolemia. J Intern Med. 2023;293(2):144\u201365.","journal-title":"J Intern Med"},{"issue":"3","key":"2406_CR4","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jacl.2022.03.002","volume":"16","author":"M Fourgeaud","year":"2022","unstructured":"Fourgeaud M, Lebreton L, Belabbas K, et al. Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations. J Clin Lipidol. 2022;16(3):298\u2013305.","journal-title":"J Clin Lipidol"},{"issue":"10","key":"2406_CR5","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/S2213-8587(16)30041-9","volume":"4","author":"RD Santos","year":"2016","unstructured":"Santos RD, Gidding SS, Hegele RA, et al. Defining severe familial hypercholesterolemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016;4(10):850\u201361.","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"25","key":"2406_CR6","doi-asserted-by":"publisher","first-page":"2277","DOI":"10.1093\/eurheartj\/ehad197","volume":"44","author":"M Cuchel","year":"2023","unstructured":"Cuchel M, Raal FJ, Hegele RA, et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolemia: new treatments and clinical guidance. Eur Heart J. 2023;44(25):2277\u201391.","journal-title":"Eur Heart J"},{"issue":"45","key":"2406_CR7","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, et al. 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(45):3478\u201390.","journal-title":"Eur Heart J"},{"issue":"22","key":"2406_CR8","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1161\/CIRCULATIONAHA.119.044795","volume":"141","author":"P Hu","year":"2020","unstructured":"Hu P, Dharmayat KI, Stevens CAT, et al. Prevalence of Familial Hypercholesterolemia Among the General Population and Patients with Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation. 2020;141(22):1742\u201359.","journal-title":"Circulation"},{"issue":"32","key":"2406_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, et al. Homozygous familial hypercholesterolemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolemia of the European Atherosclerosis Society. Eur Heart J. 2014;35(32):2146\u201357.","journal-title":"Eur Heart J."},{"issue":"10","key":"2406_CR10","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1016\/j.gim.2022.06.010","volume":"24","author":"U Sustar","year":"2022","unstructured":"Sustar U, Kordonouri O, Mlinaric M, et al. Universal screening for familial hypercholesterolemia in 2 populations. Genet Med. 2022;24(10):2103\u201311.","journal-title":"Genet Med"},{"key":"2406_CR11","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.atherosclerosis.2018.08.051","volume":"277","author":"AJ Vallejo-Vaz","year":"2018","unstructured":"EAS Familial Hypercholesterolemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, et al. Overview of the current status of familial hypercholesterolemia care in over 60 countries - The EAS Familial Hypercholesterolemia Studies Collaboration (FHSC). Atherosclerosis. 2018;277:234\u201355.","journal-title":"Atherosclerosis."},{"issue":"10421","key":"2406_CR12","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0140-6736(23)01842-1","volume":"403","author":"European Atherosclerosis Society Familial Hypercholesterolemia Studies Collaboration","year":"2024","unstructured":"European Atherosclerosis Society Familial Hypercholesterolemia Studies Collaboration. Familial hypercholesterolemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024;403(10421):55\u201366.","journal-title":"Lancet"},{"key":"2406_CR13","unstructured":"Atherosclerosis and Coronary Heart Disease Group of the Chinese Society of Cardiology of Chinese Medical Association; Editorial Board of Chinese Journal of Cardiology. Zhonghua Xin Xue Guan Bing Za Zhi. 2018;46(2):99\u2013103."},{"issue":"5","key":"2406_CR14","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"2","key":"2406_CR15","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.gim.2021.09.012","volume":"24","author":"JR Chora","year":"2022","unstructured":"Chora JR, Iacocca MA, Tich\u00fd L, et al. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genet Med. 2022;24(2):293\u2013306.","journal-title":"Genet Med"},{"issue":"6","key":"2406_CR16","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1161\/CIRCGENETICS.116.001545","volume":"9","author":"RM S\u00e1nchez-Hern\u00e1ndez","year":"2016","unstructured":"S\u00e1nchez-Hern\u00e1ndez RM, Civeira F, Stef M, et al. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. Circ Cardiovasc Genet. 2016;9(6):504\u201310.","journal-title":"Circ Cardiovasc Genet"},{"issue":"1","key":"2406_CR17","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s12944-024-02077-1","volume":"23","author":"R Gu","year":"2024","unstructured":"Gu R, Wang H, Wang CL, et al. Gene variants and clinical characteristics of children with sitosterolemia. Lipids Health Dis. 2024;23(1):83.","journal-title":"Lipids Health Dis"},{"issue":"8","key":"2406_CR18","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1161\/01.ATV.16.8.984","volume":"16","author":"S Tonstad","year":"1996","unstructured":"Tonstad S, Joakimsen O, Stensland-Bugge E, et al. Risk factors related to carotid intima-media thickness and plaque in children with familial hypercholesterolemia and control subjects. Arterioscler Thromb Vasc Biol. 1996;16(8):984\u201391.","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"2406_CR19","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/j.atherosclerosis.2017.06.014","volume":"263","author":"L Jiang","year":"2017","unstructured":"Jiang L, Benito-Vicente A, Tang L, et al. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene. Atherosclerosis. 2017;263:163\u201370.","journal-title":"Atherosclerosis"},{"issue":"2","key":"2406_CR20","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.atherosclerosis.2014.12.026","volume":"238","author":"A Etxebarria","year":"2015","unstructured":"Etxebarria A, Benito-Vicente A, Stef M, et al. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. Atherosclerosis. 2015;238(2):304\u201312.","journal-title":"Atherosclerosis"},{"key":"2406_CR21","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.jpeds.2016.12.075","volume":"183","author":"I Minicocci","year":"2017","unstructured":"Minicocci I, Pozzessere S, Prisco C, et al. Analysis of Children and Adolescents with Familial Hypercholesterolemia. J Pediatr. 2017;183:100-107.e3.","journal-title":"J Pediatr"},{"key":"2406_CR22","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.atherosclerosis.2017.06.004","volume":"263","author":"RD Santos","year":"2017","unstructured":"Santos RD, Miname MH. Increased subclinical atherosclerosis burden in familial hypercholesterolemia phenotype: What do genetic defects tell us and what are the clinical implications? Atherosclerosis. 2017;263:316\u20137.","journal-title":"Atherosclerosis"},{"issue":"11","key":"2406_CR23","doi-asserted-by":"publisher","first-page":"3956","DOI":"10.1210\/jc.2012-1563","volume":"97","author":"M Benn","year":"2012","unstructured":"Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012;97(11):3956\u201364.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2406_CR24","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/s41569-018-0052-6","volume":"16","author":"AJ Berberich","year":"2019","unstructured":"Berberich AJ, Hegele RA. The complex molecular genetics of familial hypercholesterolemia. Nat Rev Cardiol. 2019;16(1):9\u201320.","journal-title":"Nat Rev Cardiol"},{"key":"2406_CR25","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/S1567-5688(09)70280-6","volume":"10","author":"P Chen","year":"2019","unstructured":"Chen P, Chen X, Zhang S. Current status of familial hypercholesterolemia in China: a need for patient FH registry systems. Atherosclerosis. 2019;10:280.","journal-title":"Atherosclerosis"},{"issue":"2","key":"2406_CR26","first-page":"2325","volume":"233","author":"R Huijgen","year":"2012","unstructured":"Huijgen R, Kindt I, Defesche JC, et al. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Atherosclerosis. 2012;233(2):2325\u201330.","journal-title":"Atherosclerosis"},{"issue":"6","key":"2406_CR27","doi-asserted-by":"publisher","first-page":"539","DOI":"10.5551\/jat.CR002","volume":"25","author":"M Harada-Shiba","year":"2018","unstructured":"Harada-Shiba M, Ohta T, Ohtake A, et al. Guidance for Pediatric Familial Hypercholesterolemia 2017. J Atheroscler Thromb. 2018;25(6):539\u201353.","journal-title":"J Atheroscler Thromb"},{"issue":"3","key":"2406_CR28","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.jacl.2022.03.003","volume":"16","author":"L Jiang","year":"2022","unstructured":"Jiang L, Stoekenbroek RM, Zhang F, et al. Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study. J Clin Lipidol. 2022;16(3):306\u201314.","journal-title":"J Clin Lipidol"},{"key":"2406_CR29","doi-asserted-by":"publisher","first-page":"17272","DOI":"10.1038\/srep17272","volume":"5","author":"L Jiang","year":"2015","unstructured":"Jiang L, Sun LY, Dai YF, Yang SW, Zhang F, Wang LY. The distribution and characteristics of LDL receptor mutations in China: A systematic review. Sci Rep. 2015;5:17272.","journal-title":"Sci Rep"},{"issue":"4","key":"2406_CR30","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1136\/jmedgenet-2016-104054","volume":"54","author":"S Leigh","year":"2017","unstructured":"Leigh S, Futema M, Whittall R, et al. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. J Med Genet. 2017;54(4):217\u201323.","journal-title":"J Med Genet"},{"issue":"4","key":"2406_CR31","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1016\/j.jacl.2022.04.005","volume":"16","author":"R Gra\u00e7a","year":"2022","unstructured":"Gra\u00e7a R, Alves AC, Zimon M, et al. Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants. J Clin Lipidol. 2022;16(4):516\u201324.","journal-title":"J Clin Lipidol"},{"issue":"3","key":"2406_CR32","doi-asserted-by":"publisher","first-page":"559","DOI":"10.18388\/abp.2015_1015","volume":"62","author":"KK Alharbi","year":"2015","unstructured":"Alharbi KK, Kashour TS, Al-Hussaini W, et al. Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population. Acta Biochim Pol. 2015;62(3):559\u201362.","journal-title":"Acta Biochim Pol"},{"key":"2406_CR33","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.atherosclerosis.2017.02.007","volume":"258","author":"R Xiang","year":"2017","unstructured":"Xiang R, Fan LL, Lin MJ, et al. The genetic spectrum of familial hypercholesterolemia in the central south region of China. Atherosclerosis. 2017;258:84\u20138.","journal-title":"Atherosclerosis"},{"issue":"3","key":"2406_CR34","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.jacl.2015.12.016","volume":"10","author":"L Jiang","year":"2016","unstructured":"Jiang L, Sun LY, Pan XD, et al. Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia. J Clin Lipidol. 2016;10(3):538-546.e5.","journal-title":"J Clin Lipidol"},{"issue":"12","key":"2406_CR35","doi-asserted-by":"publisher","first-page":"e2070","DOI":"10.1002\/mgg3.2070","volume":"10","author":"S Jingxin","year":"2022","unstructured":"Jingxin S, Shitong C. Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test. Mol Genet Genomic Med. 2022;10(12):e2070.","journal-title":"Mol Genet Genomic Med."},{"issue":"6","key":"2406_CR36","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1111\/j.1399-0004.2008.00999.x","volume":"73","author":"JC Defesche","year":"2008","unstructured":"Defesche JC, Schuurman EJ, Klaaijsen LN, et al. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. Clin Genet. 2008;73(6):573\u20138.","journal-title":"Clin Genet"},{"issue":"6","key":"2406_CR37","doi-asserted-by":"publisher","first-page":"999","DOI":"10.3390\/genes13060999","volume":"13","author":"L Rutkowska","year":"2022","unstructured":"Rutkowska L, Sa\u0142aci\u0144ska K, Salachna D, et al. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel. Genes (Basel). 2022;13(6):999.","journal-title":"Genes (Basel)"},{"issue":"5","key":"2406_CR38","doi-asserted-by":"publisher","first-page":"417","DOI":"10.5551\/jat.56762","volume":"28","author":"S Kalra","year":"2021","unstructured":"Kalra S, Chen Z, Deerochanawong C, et al. Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region. J Atheroscler Thromb. 2021;28(5):417\u201334.","journal-title":"J Atheroscler Thromb"},{"issue":"4","key":"2406_CR39","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1111\/j.1365-2796.2007.01915.x","volume":"263","author":"J Cameron","year":"2008","unstructured":"Cameron J, Holla OL, Laerdahl JK, et al. Characterization of novel mutations in the catalytic domain of the PCSK9 gene. J Intern Med. 2008;263(4):420\u201331.","journal-title":"J Intern Med"},{"issue":"10","key":"2406_CR40","doi-asserted-by":"publisher","first-page":"2616","DOI":"10.1161\/ATVBAHA.120.315904","volume":"41","author":"E Bj\u00f6rnsson","year":"2021","unstructured":"Bj\u00f6rnsson E, Thorgeirsson G, Helgad\u00f3ttir A, et al. Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol. 2021;41(10):2616\u201328.","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"1","key":"2406_CR41","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S0021-9150(98)00064-1","volume":"139","author":"RF Carmena-Ramon","year":"1998","unstructured":"Carmena-Ramon RF, Ordovas JM, Ascaso JF, et al. Influence of genetic variation at the apo A-I gene locus on lipid levels and response to diet in familial hypercholesterolemia. Atherosclerosis. 1998;139(1):107\u201313.","journal-title":"Atherosclerosis"},{"issue":"10326","key":"2406_CR42","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/S0140-6736(21)02001-8","volume":"399","author":"TR Tromp","year":"2022","unstructured":"Tromp TR, Hartgers ML, Hovingh GK, et al. Worldwide experience of homozygous familial hypercholesterolemia: retrospective cohort study. Lancet. 2022;399(10326):719\u201328.","journal-title":"Lancet"},{"issue":"7","key":"2406_CR43","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1515\/cclm-2018-1037","volume":"57","author":"MD Di Taranto","year":"2019","unstructured":"Di Taranto MD, de Falco R, Guardamagna O, et al. Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL\/HDL ratio. Clin Chem Lab Med. 2019;57(7):1102\u201310.","journal-title":"Clin Chem Lab Med"},{"key":"2406_CR44","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.atherosclerosis.2016.02.009","volume":"247","author":"C Sanna","year":"2016","unstructured":"Sanna C, St\u00e9phenne X, Revencu N, et al. Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives. Atherosclerosis. 2016;247:97\u2013104.","journal-title":"Atherosclerosis"},{"issue":"2","key":"2406_CR45","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/j.atherosclerosis.2009.07.058","volume":"208","author":"M Junyent","year":"2010","unstructured":"Junyent M, Gilabert R, Jarauta E, et al. Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis. 2010;208(2):437\u201341.","journal-title":"Atherosclerosis"},{"issue":"7","key":"2406_CR46","first-page":"633","volume":"60","author":"Subspecialty Group of Rare Diseases","year":"2022","unstructured":"Subspecialty Group of Rare Diseases. the Society of Pediatrics, Chinese Medical Association; Subspecialty Group of Cardiology, the Society of Pediatrics, Chinese Medical Association; Subspecialty Group of Child Health Care, the Society of Pediatrics, Chinese Medical Association; Subspecialty Group of Endocrinological, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association; Editorial Board, Chinese Journal of Pediatrics. Zhonghua Er Ke Za Zhi. 2022;60(7):633\u20139.","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"2406_CR47","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.atherosclerosis.2019.09.005","volume":"290","author":"U Ramaswami","year":"2019","unstructured":"Ramaswami U, Humphries SE, Priestley-Barnham L, et al. Current management of children and young people with heterozygous familial hypercholesterolemia - HEART UK statement of care. Atherosclerosis. 2019;290:1\u20138.","journal-title":"Atherosclerosis"}],"container-title":["Lipids in Health and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12944-024-02406-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12944-024-02406-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12944-024-02406-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T18:02:27Z","timestamp":1735322547000},"score":1,"resource":{"primary":{"URL":"https:\/\/lipidworld.biomedcentral.com\/articles\/10.1186\/s12944-024-02406-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,27]]},"references-count":47,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["2406"],"URL":"https:\/\/doi.org\/10.1186\/s12944-024-02406-4","relation":{},"ISSN":["1476-511X"],"issn-type":[{"value":"1476-511X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,27]]},"assertion":[{"value":"26 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study received approval from the Ethics Committee of the Children\u2019s Hospital of Zhejiang University School of Medicine. Written informed consent was obtained from all participants or their legal guardians prior to the performance of whole exome sequencing (WES).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"423"}}