[1]
Fagge CH. Xanthomatous disease of the skin. I. General xanthelasma or vitiligoides. Trans Pathol Soc Lond 1873; 24: 242-50.
[2]
Goldstein JL, Dana SE, Brown MS. Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 1974; 71: 4288-92.
[3]
Lindgren V, Luskey KL, Russell DW, Francke U. Human genes involved in cholesterol metabolism: Chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci USA 1985; 82: 8567-71.
[4]
Leigh S, Futema M, Whittall R, et al. The UCL low-density lipoprotein receptor gene variant database: Pathogenicity update. J Med Genet 2017; 54: 217-23.
[5]
Benn M, Watts GF, Tybaerg-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: 3956-64.
[6]
Khera AV, Won HH, Peloso GM, et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016; 67: 2578-89.
[7]
Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: A model of care for Australasia. Atheroscler Suppl 2011; 12: 221-63.
[8]
Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: Gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36: 2425-37.
[9]
Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the national lipid association expert panel on familial hypercholesterolemia. J Clin Lipidol 2011; 5: 1-8.
[10]
Primary Panel: Genest J, Hegele RA, Bergeron J, et al. Canadian cardiovascular society position statement on familial hypercholesterolemia. Can J Cardiol 2014; 30: 1471-81.
[11]
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012; 223: 262-8.
[12]
Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171: 309-25.
[13]
Ellis KL, Pang J, Watts GF. Registries, codifications and cardiovascular outcomes in familial hypercholesterolaemia. Eur J Prev Cardiol 2017; 24: 133-6.
[14]
Mundal L, Retterstol K. A systematic review of current studies in patients with familial hypercholesterolemia by use of national familial hypercholesterolemia registries. Curr Opin Lipidol 2016; 27: 388-97.
[15]
Kindt I, Mata P, Knowles JW. The role of registries and genetic databases in familial hypercholesterolemia. Curr Opin Lipidol 2017; 28: 152-60.
[16]
Thompson GR, Blom DJ, Marais AD, et al. Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol. Eur Heart J 2018; 39: 1162-8.
[17]
Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202-7.
[18]
Bruckert E, Kalmykova O, Bittar R, et al. Long-term outcome in 53 patients with homozygous familial hypercholesterolaemia in a single centre in France. Atherosclerosis 2017; 257: 130-7.
[19]
Bellgard MI, Walker CE, Napier KR, et al. Design of the familial hypercholesterolaemia australasia network registry: Creating opportunities for greater international collaboration. J Atheroscler Thromb 2017; 24: 1075-84.
[20]
Pérez-Calahorra S, Sánchez-Hernández RM, Plana N, Valdivielso P, Civeira F. National dyslipidemia registry of the spanish arteriosclerosis society: Current status. Clin Investig Arterioscler 2017; 29: 248-53.
[21]
Schmidt N, Grammer T, Gouni-Berthold I, et al. Care high - Cascade screening and registry for high cholesterol in Germany. Atheroscler Suppl 2017; 30: 72-6.
[22]
Arnold-Reed DE, Brett T, Troeung L, et al. Detection and management of familial hypercholesterolaemia in primary care in Australia: Protocol for a pragmatic cluster intervention study with pre-post intervention comparisons. BMJ Open 2017; 7e017539
[23]
Kayikçioğlu M, Tokgözoğlu L. The rationale and design of the national familial hypercholesterolemia registries in Turkey: A-HIT1 and A-HIT2 studies. Turk Kardiyol Dern Ars 2017; 45: 261-7.
[24]
Al-Rasadi K, Alhabib KF, Al-Allaf F, et al. The Gulf familial hypercholesterolemia registry (Gulf FH): Design, rationale and preliminary results. Curr Vasc Pharmacol 2020; 18(1): 57-64.
[25]
El-Hazmi MA, al-Swailem AR, Warsy AS, et al. Consanguinity among the Saudi Arabian population. J Med Genet 1995; 32: 623-6.
[26]
Al-Rasadi K, Al-Zakwani I, Alsheikh-Ali AA, et al. Prevalence, management, and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf. J Clin Lipidol 2018; 12: 685-92.
[27]
Bamimore MA, Zaid A, Banerjee Y, et al. Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry. J Clin Lipidol 2015; 9: 187-94.
[28]
Akioyamen LE, Genest J, Shan SD, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: A systematic review and meta-analysis. BMJ Open 2017; 7e016461
[29]
Familial hypercholesterolaemia ( FH) : report of a second WHO consultation, Geneva, 4 September 1998.
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