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Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. <i>In<\/i>: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001; 2863e913."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mabuchi H. Half a century tales of familial hypercholesterolemia (FH) in Japan. <i>J Atheroscler Thromb<\/i> 2017; 24: 189\u2013207.","DOI":"10.5551\/jat.RV16008"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, et al. Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel. <i>J Am Coll Cardiol<\/i> 2018; 72: 662\u2013680.","DOI":"10.1016\/j.jacc.2018.05.044"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, et al. The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred. <i>J Clin Lipidol<\/i> 2018; 12: 152\u2013161.","DOI":"10.1016\/j.jacl.2017.10.013"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, P\u00e9rez-Calahorra S, Marco-Bened\u00ed V, et al. ABCG5\/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols. <i>J Clin Lipidol<\/i> 2017; 11: 1432\u20131440.","DOI":"10.1016\/j.jacl.2017.09.005"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, et al. Genetic variations at ABCG5\/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. <i>Atherosclerosis<\/i> 2010; 210: 486\u2013492.","DOI":"10.1016\/j.atherosclerosis.2010.01.010"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. 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Analysis of protein-coding genetic variation in 60,706 humans. <i>Nature<\/i> 2016; 536: 285\u2013291.","DOI":"10.1038\/nature19057"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Tada H, Kawashiri MA, Yoshida T, Teramoto R, Nohara A, Konno T, et al. Lipoprotein(a) in familial hypercholesterolemia with proprotein convertase subtilisin\/kexin type 9 (PCSK9) gain-of-function mutations. <i>Circ J<\/i> 2016; 80: 512\u2013518.","DOI":"10.1253\/circj.CJ-15-0999"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Ahmida HS, Bertucci P, Franz\u00f2 L, Massoud R, Cortese C, Lala A, et al. Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography-mass spectrometry (GC-MS) with selective ion monitoring (SIM). <i>J Chromatogr B Analyt Technol Biomed Life Sci<\/i> 2006; 842: 43\u201347.","DOI":"10.1016\/j.jchromb.2006.05.024"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Committee of the Japan Diabetes Society on the Diagnostic Criteria of Diabetes Mellitus, Seino Y, Nanjo K, Tajima N, Kadowaki T, Kashiwagi A, Araki E, et al. Report of the committee on the classification and diagnostic criteria of diabetes mellitus. <i>J Diabetes Investig<\/i> 2010; 1: 212\u2013228.","DOI":"10.1111\/j.2040-1124.2010.00074.x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M. Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. <i>Eur Heart J<\/i> 2017; 38: 1573\u20131579.","DOI":"10.1093\/eurheartj\/ehx004"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Tada H, Nomura A, Yamagishi M, Kawashiri MA. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. <i>J Clin Lipidol<\/i> 2018; 12: 1164\u20131168.","DOI":"10.1016\/j.jacl.2018.06.003"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, et al. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. <i>Atherosclerosis<\/i> 2011; 214: 404\u2013407.","DOI":"10.1016\/j.atherosclerosis.2010.11.005"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Benn M, Watts GF, Tybj\u00e6rg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: Screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. <i>Eur Heart J<\/i> 2016; 37: 1384\u20131394.","DOI":"10.1093\/eurheartj\/ehw028"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). <i>Circulation<\/i> 2016; 133: 1067\u20131072.","DOI":"10.1161\/CIRCULATIONAHA.115.018791"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Wald DS, Bestwick JP, Morris JK, Whyte K, Jenkins L, Wald NJ. Child-parent familial hypercholesterolemia screening in primary care. <i>N Engl J Med<\/i> 2016; 375: 1628\u20131637.","DOI":"10.1056\/NEJMoa1602777"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Tremblay AJ, Lamarche B, Ruel IL, Hogue JC, Bergeron J, Gagn\u00e9 C, et al. Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. <i>J Lipid Res<\/i> 2004; 45: 866\u2013872.","DOI":"10.1194\/jlr.M300448-JLR200"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Su K, Sabeva NS, Liu J, Wang Y, Bhatnagar S, van der Westhuyzen DR, et al. 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