Familial hypercholesterolemia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Familial hypercholesterolemia" in English language version.

refsWebsite

Global rank English rank

69nih.gov

4^th place

51doi.org

2^nd place

14semanticscholar.org

11^th place

8^th place

3harvard.edu

18^th place

17^th place

3web.archive.org

1^st place

3fda.gov

447^th place

338^th place

2worldcat.org

5^th place

1psu.edu

207^th place

136^th place

1ClinicalTrials.gov

low place

1bbc.co.uk

8^th place

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1cdc.gov

218^th place

212^th place

1nice.org.uk

3,258^th place

2,666^th place

1nytimes.com

7^th place

1nobelprize.org

301^st place

478^th place

ClinicalTrials.gov

Seed M, Hoppichler F, Reaveley D, Mccarthy S, Thompson GR, Boerwinkle E, Utermann G (May 1990). "Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia" (Free full text). The New England Journal of Medicine. 322 (21): 1494–1499. doi:10.1056/NEJM199005243222104. ISSN 0028-4793. PMID 2139920.

bbc.co.uk

Caroline Parkinson (27 October 2016). "Toddlers 'should get heart risk test'". BBC News. Retrieved 27 October 2016.

cdc.gov

"Genetic Counseling for Familial Hypercholesterolemia | CDC". www.cdc.gov. 2020-04-01. Retrieved 2021-02-12.

doi.org

Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE, National Lipid Association Expert Panel on Familial H (June 2011). "Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia". Journal of Clinical Lipidology. 5 (3 Suppl): S1–8. doi:10.1016/j.jacl.2011.04.003. PMID 21600525.
Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. (2017). "Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis". BMJ Open. 7 (9): e016461. doi:10.1136/bmjopen-2017-016461. PMC 5588988. PMID 28864697.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Rader DJ, Cohen J, Hobbs HH (2003). "Monogenic hypercholesterolemia: new insights in pathogenesis and treatment". J. Clin. Invest. 111 (12): 1795–803. doi:10.1172/JCI18925. PMC 161432. PMID 12813012.
Tsouli SG, Kiortsis DN, Argyropoulou MI, Mikhailidis DP, Elisaf MS (2005). "Pathogenesis, detection and treatment of Achilles tendon xanthomas". Eur. J. Clin. Invest. 35 (4): 236–44. doi:10.1111/j.1365-2362.2005.01484.x. PMID 15816992. S2CID 38952905.
Durrington P (2003). "Dyslipidaemia". Lancet. 362 (9385): 717–31. doi:10.1016/S0140-6736(03)14234-1. PMID 12957096. S2CID 208792416.
Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, Roeters Van Lennep HW, Sijbrands EJ, Kastelein JJ (2004). "The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients". J. Intern. Med. 256 (6): 482–90. doi:10.1111/j.1365-2796.2004.01405.x. PMID 15554949. S2CID 25292760.
Williams RR, Hunt SC, Schumacher MC, et al. (1993). "Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics". Am J Cardiol. 2 (72): 171–76. doi:10.1016/0002-9149(93)90155-6. PMID 8328379.
Repas TB, Tanner JR (February 2014). "Preventing early cardiovascular death in patients with familial hypercholesterolemia". J Am Osteopath Assoc. 114 (2): 99–108. doi:10.7556/jaoa.2014.023. PMID 24481802.
van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, Trip MD, Lansberg PJ, Stalenhoef AF, Kastelein JJ (2006). "Diagnosing familial hypercholesterolaemia: the relevance of genetic testing". Eur. Heart J. 27 (18): 2240–6. doi:10.1093/eurheartj/ehl113. PMID 16825289.
Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH (April 2002). "Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations". Arch. Neurol. 59 (4): 527–9. doi:10.1001/archneur.59.4.527. PMID 11939886.
Hobbs HH, Brown MS, Goldstein JL (1992). "Molecular genetics of the LDLR gene in familial hypercholesterolemia". Hum. Mutat. 1 (6): 445–66. doi:10.1002/humu.1380010602. PMID 1301956. S2CID 5756814.
Vega GL, Grundy SM (1986). "In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia". J. Clin. Invest. 78 (5): 1410–4. doi:10.1172/JCI112729. PMC 423848. PMID 3771801.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L (2003). "Mutations in PCSK9 cause autosomal dominant hypercholesterolemia". Nat. Genet. 34 (2): 154–6. doi:10.1038/ng1161. PMID 12730697. S2CID 19462210.
Seidah NG, Khatib AM, Prat A (2006). "The proprotein convertases and their implication in sterol and/or lipid metabolism". Biol. Chem. 387 (7): 871–7. doi:10.1515/BC.2006.110. PMID 16913836. S2CID 22395543.
Khachadurian AK, Uthman SM (1973). "Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients". Nutr Metab. 15 (1): 132–40. doi:10.1159/000175431. PMID 4351242.
Brown MS, Goldstein JL (1974). "Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity". Proc. Natl. Acad. Sci. U.S.A. 71 (3): 788–92. Bibcode:1974PNAS...71..788B. doi:10.1073/pnas.71.3.788. PMC 388099. PMID 4362634.
Scientific Steering Committee on behalf of the Simon Broome Register Group (1991). "Risk of fatal coronary heart disease in familial hypercholesterolaemia". BMJ. 303 (6807): 893–6. doi:10.1136/bmj.303.6807.893. PMC 1671226. PMID 1933004.
Sijbrands EJ, Westendorp RG, Defesche JC, de Meier PH, Smelt AH, Kastelein JJ (2001). "Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study". BMJ. 322 (7293): 1019–23. doi:10.1136/bmj.322.7293.1019. PMC 31037. PMID 11325764.
Jansen AC, van Aalst-Cohen ES, Tanck MW, Cheng S, Fontecha MR, Li J, Defesche JC, Kastelein JJ (2005). "Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia". Arterioscler. Thromb. Vasc. Biol. 25 (7): 1475–81. CiteSeerX 10.1.1.498.4838. doi:10.1161/01.ATV.0000168909.44877.a7. PMID 15879303.
Wiklund O, Angelin B, Olofsson SO, Eriksson M, Fager G, Berglund L, Bondjers G (Jun 1990). "Apolipoprotein(a) and ischaemic heart disease in familial hypercholesterolaemia". Lancet. 335 (8702): 1360–1363. doi:10.1016/0140-6736(90)91242-3. PMID 1971660. S2CID 27054208.
Seed M, Hoppichler F, Reaveley D, Mccarthy S, Thompson GR, Boerwinkle E, Utermann G (May 1990). "Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia" (Free full text). The New England Journal of Medicine. 322 (21): 1494–1499. doi:10.1056/NEJM199005243222104. ISSN 0028-4793. PMID 2139920.
O'Malley JP, Maslen CL, Illingworth DR (19 May 1998). "Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia". Circulation. 97 (18): 1780–3. doi:10.1161/01.CIR.97.18.1780. PMID 9603531.
Besseling J, Sjouke B, Kastelein JJ (August 2015). "Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014)". Atherosclerosis. 241 (2): 597–606. doi:10.1016/j.atherosclerosis.2015.06.011. PMID 26115072.
Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA (June 2002). "Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia". BMJ. 324 (7349): 1303. doi:10.1136/bmj.324.7349.1303. PMC 113765. PMID 12039822.
Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ (January 2001). "Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands". Lancet. 357 (9251): 165–8. doi:10.1016/S0140-6736(00)03587-X. PMID 11213091. S2CID 25342898.
Marks D, Thorogood M, Neil HA, Wonderling D, Humphries SE (March 2003). "Comparing costs and benefits over a 10 year period of strategies for familial hypercholesterolaemia screening". J Public Health Med. 25 (1): 47–52. doi:10.1093/pubmed/fdg010. PMID 12669918.
Wald DS, Bestwick JP, Wald NJ (22 September 2007). "Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis". BMJ. 335 (7620): 599. doi:10.1136/bmj.39300.616076.55. PMC 1989026. PMID 17855284.
Saenger AK (1 August 2012). "Universal Lipid Screening in Children and Adolescents: A Baby Step toward Primordial Prevention?". Clinical Chemistry. 58 (8): 1179–1181. doi:10.1373/clinchem.2012.182287. PMID 22510399.
Wald DS, Bestwick JP, Morris JK, Whyte K, Jenkins L, Wald NJ (2016). "Child–Parent Familial Hypercholesterolemia Screening in Primary Care". New England Journal of Medicine. 375 (17): 1628–1637. doi:10.1056/NEJMoa1602777. ISSN 0028-4793. PMID 27783906.
Nemati MH, Astaneh B (2010). "Optimal management of familial hypercholesterolemia: treatment and management strategies". Vasc Health Risk Manag. 6: 1079–1088. doi:10.2147/VHRM.S8283. PMC 3004511. PMID 21191428.
Kastelein JJ, Akdim F, Stroes ES, Zwinderman AH, Bots ML, Stalenhoef AF, Visseren FL, Sijbrands EJ, Trip MD (April 2008). "Simvastatin with or without ezetimibe in familial hypercholesterolemia" (PDF). N. Engl. J. Med. 358 (14): 1431–43. doi:10.1056/NEJMoa0800742. PMID 18376000. S2CID 8085257. Archived from the original (PDF) on 2020-06-29.
Scientific Steering Committee on behalf of the Simon Broome Register Group (1999). "Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management". Atherosclerosis. 142 (1): 105–12. doi:10.1016/S0021-9150(98)00200-7. PMID 9920511.
Neil A, Cooper J, Betteridge J, et al. (November 2008). "Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study". Eur. Heart J. 29 (21): 2625–33. doi:10.1093/eurheartj/ehn422. PMC 2577142. PMID 18840879.
Ito MK, Santos RD (16 May 2016). "PCSK9 inhibition with monoclonal antibodies-modern management of hypercholesterolemia". Journal of Clinical Pharmacology. Online first (1): 7–32. doi:10.1002/jcph.766. PMC 5215586. PMID 27195910.
Marais AD, Blom DJ, Firth JC (January 2002). "Statins in homozygous familial hypercholesterolemia". Curr Atheroscler Rep. 4 (1): 19–25. doi:10.1007/s11883-002-0058-7. PMID 11772418. S2CID 8075552.
Bilheimer DW, Goldstein JL, Grundy SM, Starzl TE, Brown MS (December 1984). "Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia". N. Engl. J. Med. 311 (26): 1658–64. doi:10.1056/NEJM198412273112603. PMC 2975980. PMID 6390206.
Revell SP, Noble-Jamieson G, Johnston P, Rasmussen A, Jamieson N, Barnes ND (November 1995). "Liver transplantation for homozygous familial hypercholesterolaemia". Arch. Dis. Child. 73 (5): 456–8. doi:10.1136/adc.73.5.456. PMC 1511367. PMID 8554367.
López-Santamaria M, Migliazza L, Gamez M, Murcia J, Diaz-Gonzalez M, Camarena C, Hierro L, De La Vega A, Frauca E (April 2000). "Liver transplantation in patients with homozygotic familial hypercholesterolemia previously treated by end-to-side portocaval shunt and ileal bypass". J. Pediatr. Surg. 35 (4): 630–3. doi:10.1053/jpsu.2000.0350630. PMID 10770402.
Buchwald H, Varco RL, Boen JR, Williams SE, Hansen BJ, Campos CT, Campbell GS, Pearce MB, Yellin AE (June 1998). "Effective lipid modification by partial ileal bypass reduced long-term coronary heart disease mortality and morbidity: five-year posttrial follow-up report from the POSCH. Program on the Surgical Control of the Hyperlipidemias". Arch. Intern. Med. 158 (11): 1253–61. doi:10.1001/archinte.158.11.1253. PMID 9625405. S2CID 27446759.
Bilheimer DW, Goldstein JL, Grundy SM, Brown MS (December 1975). "Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia". J. Clin. Invest. 56 (6): 1420–30. doi:10.1172/JCI108223. PMC 333120. PMID 172531.
Cuchel M, Bloedon LT, Szapary PO, Kolansky DM, Wolfe ML, Sarkis A, Millar JS, Ikewaki K, Siegelman ES (January 2007). "Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia". N. Engl. J. Med. 356 (2): 148–56. doi:10.1056/NEJMoa061189. PMID 17215532.
Astaneh B, Makhdami N, Astaneh V, Guyatt G (July 2021). "The Effect of Mipomersen in the Management of Patients with Familial Hypercholesterolemia: A Systematic Review and Meta-Analysis of Clinical Trials". J Cardiovasc Dev Dis. 8 (7): 82. doi:10.3390/jcdd8070082. PMC 8304130. PMID 34357325.
Grossman M, Rader DJ, Muller DW, Kolansky DM, Kozarsky K, Clark BJ, Stein EA, Lupien PJ, Brewer HB (November 1995). "A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia". Nat. Med. 1 (11): 1148–54. doi:10.1038/nm1195-1148. PMID 7584986. S2CID 3194865.
Mabuchi H, Koizumi J, Shimizu M, Takeda R (February 1989). "Development of coronary heart disease in familial hypercholesterolemia". Circulation. 79 (2): 225–32. doi:10.1161/01.CIR.79.2.225. PMID 2914343.
Greene O, Durrington P (May 2004). "Clinical management of children and young adults with heterozygous familial hypercholesterolaemia in the UK". J R Soc Med. 97 (5): 226–9. doi:10.1177/014107680409700505. PMC 1079462. PMID 15121812.
Rodenburg J, Vissers MN, Wiegman A, Trip MD, Bakker HD, Kastelein JJ (August 2004). "Familial hypercholesterolemia in children". Curr. Opin. Lipidol. 15 (4): 405–11. doi:10.1097/01.mol.0000137228.92396.f3. PMID 15243213. S2CID 38754088.
Wiegman A, Hutten BA, de Groot E, Rodenburg J, Bakker HD, Büller HR, Sijbrands EJ, Kastelein JJ (July 2004). "Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial". JAMA. 292 (3): 331–7. doi:10.1001/jama.292.3.331. PMID 15265847.
Kavey RE, Allada V, Daniels SR, Hayman LL, McCrindle BW, Newburger JW, Parekh RS, Steinberger J, American Heart Association Expert Panel on Population Prevention Science (December 2006). "Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American Heart Association Expert Panel on Population and Prevention Science; the Councils on Cardiovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: endorsed by the American Academy of Pediatrics". Circulation. 114 (24): 2710–38. doi:10.1161/CIRCULATIONAHA.106.179568. PMID 17130340.
Müller C (1938). "Xanthoma, hypercholesterolemia, angina pectoris". Acta Medica Scandinavica. 95 Suppl (89): 75–84. doi:10.1111/j.0954-6820.1938.tb19279.x.
Goldstein JL, Brown MS (October 1973). "Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol". Proc. Natl. Acad. Sci. U.S.A. 70 (10): 2804–8. Bibcode:1973PNAS...70.2804G. doi:10.1073/pnas.70.10.2804. PMC 427113. PMID 4355366.
Brown MS, Goldstein JL (January 1976). "Receptor-mediated control of cholesterol metabolism". Science. 191 (4223): 150–4. Bibcode:1976Sci...191..150B. doi:10.1126/science.174194. PMID 174194.

fda.gov

"FDA approves new orphan drug for rare cholesterol disorder" (Press release). U.S. Food and Drug Administration. 26 December 2012. Archived from the original on 31 December 2012.
"FDA approves new orphan drug Kynamro to treat inherited cholesterol disorder" (Press release). U.S. Food and Drug Administration. 29 January 2013. Archived from the original on 2 February 2013.
"Novel Drug Approvals for 2021". FDA. 13 May 2022.

harvard.edu

ui.adsabs.harvard.edu

Brown MS, Goldstein JL (1974). "Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity". Proc. Natl. Acad. Sci. U.S.A. 71 (3): 788–92. Bibcode:1974PNAS...71..788B. doi:10.1073/pnas.71.3.788. PMC 388099. PMID 4362634.
Goldstein JL, Brown MS (October 1973). "Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol". Proc. Natl. Acad. Sci. U.S.A. 70 (10): 2804–8. Bibcode:1973PNAS...70.2804G. doi:10.1073/pnas.70.10.2804. PMC 427113. PMID 4355366.
Brown MS, Goldstein JL (January 1976). "Receptor-mediated control of cholesterol metabolism". Science. 191 (4223): 150–4. Bibcode:1976Sci...191..150B. doi:10.1126/science.174194. PMID 174194.

nice.org.uk

National Institute for Health and Clinical Excellence. Clinical guideline 71: Familial hypercholesterolaemia. London, 2008.

nih.gov

pubmed.ncbi.nlm.nih.gov

Pejic RN (2014). "Familial Hypercholesterolemia". Ochsner Journal. 14 (4): 669–72. PMC 4295745. PMID 25598733.
Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE, National Lipid Association Expert Panel on Familial H (June 2011). "Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia". Journal of Clinical Lipidology. 5 (3 Suppl): S1–8. doi:10.1016/j.jacl.2011.04.003. PMID 21600525.
Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. (2017). "Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis". BMJ Open. 7 (9): e016461. doi:10.1136/bmjopen-2017-016461. PMC 5588988. PMID 28864697.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Rader DJ, Cohen J, Hobbs HH (2003). "Monogenic hypercholesterolemia: new insights in pathogenesis and treatment". J. Clin. Invest. 111 (12): 1795–803. doi:10.1172/JCI18925. PMC 161432. PMID 12813012.
Tsouli SG, Kiortsis DN, Argyropoulou MI, Mikhailidis DP, Elisaf MS (2005). "Pathogenesis, detection and treatment of Achilles tendon xanthomas". Eur. J. Clin. Invest. 35 (4): 236–44. doi:10.1111/j.1365-2362.2005.01484.x. PMID 15816992. S2CID 38952905.
Durrington P (2003). "Dyslipidaemia". Lancet. 362 (9385): 717–31. doi:10.1016/S0140-6736(03)14234-1. PMID 12957096. S2CID 208792416.
Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, Roeters Van Lennep HW, Sijbrands EJ, Kastelein JJ (2004). "The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients". J. Intern. Med. 256 (6): 482–90. doi:10.1111/j.1365-2796.2004.01405.x. PMID 15554949. S2CID 25292760.
Williams RR, Hunt SC, Schumacher MC, et al. (1993). "Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics". Am J Cardiol. 2 (72): 171–76. doi:10.1016/0002-9149(93)90155-6. PMID 8328379.
Repas TB, Tanner JR (February 2014). "Preventing early cardiovascular death in patients with familial hypercholesterolemia". J Am Osteopath Assoc. 114 (2): 99–108. doi:10.7556/jaoa.2014.023. PMID 24481802.
van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, Trip MD, Lansberg PJ, Stalenhoef AF, Kastelein JJ (2006). "Diagnosing familial hypercholesterolaemia: the relevance of genetic testing". Eur. Heart J. 27 (18): 2240–6. doi:10.1093/eurheartj/ehl113. PMID 16825289.
Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH (April 2002). "Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations". Arch. Neurol. 59 (4): 527–9. doi:10.1001/archneur.59.4.527. PMID 11939886.
Hobbs HH, Brown MS, Goldstein JL (1992). "Molecular genetics of the LDLR gene in familial hypercholesterolemia". Hum. Mutat. 1 (6): 445–66. doi:10.1002/humu.1380010602. PMID 1301956. S2CID 5756814.
Vega GL, Grundy SM (1986). "In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia". J. Clin. Invest. 78 (5): 1410–4. doi:10.1172/JCI112729. PMC 423848. PMID 3771801.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L (2003). "Mutations in PCSK9 cause autosomal dominant hypercholesterolemia". Nat. Genet. 34 (2): 154–6. doi:10.1038/ng1161. PMID 12730697. S2CID 19462210.
Seidah NG, Khatib AM, Prat A (2006). "The proprotein convertases and their implication in sterol and/or lipid metabolism". Biol. Chem. 387 (7): 871–7. doi:10.1515/BC.2006.110. PMID 16913836. S2CID 22395543.
Khachadurian AK, Uthman SM (1973). "Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients". Nutr Metab. 15 (1): 132–40. doi:10.1159/000175431. PMID 4351242.
Brown MS, Goldstein JL (1974). "Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity". Proc. Natl. Acad. Sci. U.S.A. 71 (3): 788–92. Bibcode:1974PNAS...71..788B. doi:10.1073/pnas.71.3.788. PMC 388099. PMID 4362634.
Scientific Steering Committee on behalf of the Simon Broome Register Group (1991). "Risk of fatal coronary heart disease in familial hypercholesterolaemia". BMJ. 303 (6807): 893–6. doi:10.1136/bmj.303.6807.893. PMC 1671226. PMID 1933004.
Sijbrands EJ, Westendorp RG, Defesche JC, de Meier PH, Smelt AH, Kastelein JJ (2001). "Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study". BMJ. 322 (7293): 1019–23. doi:10.1136/bmj.322.7293.1019. PMC 31037. PMID 11325764.
Jansen AC, van Aalst-Cohen ES, Tanck MW, Cheng S, Fontecha MR, Li J, Defesche JC, Kastelein JJ (2005). "Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia". Arterioscler. Thromb. Vasc. Biol. 25 (7): 1475–81. CiteSeerX 10.1.1.498.4838. doi:10.1161/01.ATV.0000168909.44877.a7. PMID 15879303.
Wiklund O, Angelin B, Olofsson SO, Eriksson M, Fager G, Berglund L, Bondjers G (Jun 1990). "Apolipoprotein(a) and ischaemic heart disease in familial hypercholesterolaemia". Lancet. 335 (8702): 1360–1363. doi:10.1016/0140-6736(90)91242-3. PMID 1971660. S2CID 27054208.
Seed M, Hoppichler F, Reaveley D, Mccarthy S, Thompson GR, Boerwinkle E, Utermann G (May 1990). "Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia" (Free full text). The New England Journal of Medicine. 322 (21): 1494–1499. doi:10.1056/NEJM199005243222104. ISSN 0028-4793. PMID 2139920.
O'Malley JP, Maslen CL, Illingworth DR (19 May 1998). "Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia". Circulation. 97 (18): 1780–3. doi:10.1161/01.CIR.97.18.1780. PMID 9603531.
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Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA (June 2002). "Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia". BMJ. 324 (7349): 1303. doi:10.1136/bmj.324.7349.1303. PMC 113765. PMID 12039822.
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