-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D. eds, 8th ed. New York: McGraw-Hill Information Services Company;
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In Scriver CR, Beaudet AL, Sly WS, Valle D. eds, The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill Information Services Company; 2001, p2863-2913.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
56349147086
-
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia
-
Kolansky DM, Cuchel M, Clark BJ, Paridon S, McCrindle BW, Wiegers SE, Araujo L, Vohra Y, Defesche JC, Wilson JM, Rader DJ. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008;102:1438-1443.
-
(2008)
Am J Cardiol
, vol.102
, pp. 1438-1443
-
-
Kolansky, D.M.1
Cuchel, M.2
Clark, B.J.3
Paridon, S.4
McCrindle, B.W.5
Wiegers, S.E.6
Araujo, L.7
Vohra, Y.8
Defesche, J.C.9
Wilson, J.M.10
Rader, D.J.11
-
3
-
-
4444376916
-
Genetic causes of monogenic heterozygous familial hypercholesterolemia: A huge prevalence review
-
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407-420.
-
(2004)
Am J Epidemiol
, vol.160
, pp. 407-420
-
-
Austin, M.A.1
Hutter, C.M.2
Zimmern, R.L.3
Humphries, S.E.4
-
4
-
-
84890461947
-
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the european atherosclerosis society
-
European Atherosclerosis Society Consensus Panel
-
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia 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;34:3478-3490.
-
(2013)
Eur Heart J
, vol.34
, pp. 3478-3490
-
-
Nordestgaard, B.G.1
Chapman, M.J.2
Humphries, S.E.3
Ginsberg, H.N.4
Masana, L.5
Descamps, O.S.6
Wiklund, O.7
Hegele, R.A.8
Raal, F.J.9
Defesche, J.C.10
Wiegman, A.11
Santos, R.D.12
Watts, G.F.13
Parhofer, K.G.14
Hovingh, G.K.15
Kovanen, P.T.16
Boileau, C.17
Averna, M.18
Borén, J.19
Bruckert, E.20
Catapano, A.L.21
Kuivenhoven, J.A.22
Pajukanta, P.23
Ray, K.24
Stalenhoef, A.F.25
Stroes, E.26
Taskinen, M.R.27
Tybjærg-Hansen, A.28
more..
-
5
-
-
84907708708
-
Homozygous autosomal dominant hypercholesterolemia in the netherlands: Prevalence, genotype-phenotype relationship and clinical outcome
-
Feb 28. (Epub ahead of print)
-
Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche J, Sijbrands EJG, Roeters van Lennep JE, Stalenhoef AFH, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJP, Hovingh GK. Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship and clinical outcome. Eur Heart J 2014; Feb 28. (Epub ahead of print).
-
(2014)
Eur Heart J
-
-
Sjouke, B.1
Kusters, D.M.2
Kindt, I.3
Besseling, J.4
Defesche, J.5
Sijbrands, E.J.G.6
Roeters Van Lennep, J.E.7
Stalenhoef, A.F.H.8
Wiegman, A.9
De Graaf, J.10
Fouchier, S.W.11
Kastelein, J.J.P.12
Hovingh, G.K.13
-
6
-
-
33947679772
-
Mechanisms of disease: Genetic causes of familial hypercholesterolemia
-
Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007;4:214-225.
-
(2007)
Nat Clin Pract Cardiovasc Med
, vol.4
, pp. 214-225
-
-
Soutar, A.K.1
Naoumova, R.P.2
-
7
-
-
0027323004
-
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
-
Moorjani S, Roy M, Torres A, Bétard C, Gagné C, Lambert M, Brun D, Davignon J, Lupien P. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet 1993;341:1303-1306.
-
(1993)
Lancet
, vol.341
, pp. 1303-1306
-
-
Moorjani, S.1
Roy, M.2
Torres, A.3
Bétard, C.4
Gagné, C.5
Lambert, M.6
Brun, D.7
Davignon, J.8
Lupien, P.9
-
8
-
-
84875052628
-
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in italy
-
Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis 2013;227:342-348.
-
(2013)
Atherosclerosis
, vol.227
, pp. 342-348
-
-
Bertolini, S.1
Pisciotta, L.2
Rabacchi, C.3
Cefalù, A.B.4
Noto, D.5
Fasano, T.6
Signori, A.7
Fresa, R.8
Averna, M.9
Calandra, S.10
-
9
-
-
11144229240
-
Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations
-
Tybjaerg-Hansen A, Jensen HK, Benn M, Steffensen R, Jensen G, Nordestgaard BG. Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations. Arterioscler Thromb Vasc Biol 2005;25: 211-215.
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, pp. 211-215
-
-
Tybjaerg-Hansen, A.1
Jensen, H.K.2
Benn, M.3
Steffensen, R.4
Jensen, G.5
Nordestgaard, B.G.6
-
10
-
-
84876167878
-
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
-
Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013;381:1293-1301.
-
(2013)
Lancet
, vol.381
, pp. 1293-1301
-
-
Talmud, P.J.1
Shah, S.2
Whittall, R.3
Futema, M.4
Howard, P.5
Cooper, J.A.6
Harrison, S.C.7
Li, K.8
Drenos, F.9
Karpe, F.10
Neil, H.A.11
Descamps, O.S.12
Langenberg, C.13
Lench, N.14
Kivimaki, M.15
Whittaker, J.16
Hingorani, A.D.17
Kumari, M.18
Humphries, S.E.19
-
11
-
-
84885644881
-
The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies
-
Ooi EM, Barrett PH, Watts GF. The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: developing a new framework for future therapies. Int J Cardiol 2013;168:1811-1818.
-
(2013)
Int J Cardiol
, vol.168
, pp. 1811-1818
-
-
Ooi, E.M.1
Barrett, P.H.2
Watts, G.F.3
-
12
-
-
84871945617
-
Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: A single-arm, open-label, phase 3 study
-
Phase 3 HoFH Lomitapide Study investigators
-
Cuchel M, Meagher EA, du Toit Theron H, Blom DJ, Marais AD, Hegele RA, Averna MR, Sirtori CR, Shah PK, Gaudet D, Stefanutti C, Vigna GB, Du Plessis AM, Propert KJ, Sasiela WJ, Bloedon LT, Rader DJ; Phase 3 HoFH Lomitapide Study investigators. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet 2013;381:40-46.
-
(2013)
Lancet
, vol.381
, pp. 40-46
-
-
Cuchel, M.1
Meagher, E.A.2
Du Toit Theron, H.3
Blom, D.J.4
Marais, A.D.5
Hegele, R.A.6
Averna, M.R.7
Sirtori, C.R.8
Shah, P.K.9
Gaudet, D.10
Stefanutti, C.11
Vigna, G.B.12
Du Plessis, A.M.13
Propert, K.J.14
Sasiela, W.J.15
Bloedon, L.T.16
Rader, D.J.17
-
13
-
-
14044264835
-
Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia
-
Francis GA, Johnson RL, Findlay JM, Wang J, Hegele RA. Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia. CMAJ 2005;172:495-497.
-
(2005)
CMAJ
, vol.172
, pp. 495-497
-
-
Francis, G.A.1
Johnson, R.L.2
Findlay, J.M.3
Wang, J.4
Hegele, R.A.5
-
14
-
-
78650030824
-
Sudden death in a 4-year-old boy: A near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (w556r) in homozygous familial hypercholesterolemia
-
Widhalm K, Binder CB, Kreissl A, Aldover-Macasaet E, Fritsch M, Kroisboeck S, Geiger H. Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia. J Pediatr 2011;158:167.
-
(2011)
J Pediatr
, vol.158
, pp. 167
-
-
Widhalm, K.1
Binder, C.B.2
Kreissl, A.3
Aldover-Macasaet, E.4
Fritsch, M.5
Kroisboeck, S.6
Geiger, H.7
-
15
-
-
84860228357
-
Homozygous familial hypercholesterolaemia
-
Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Homozygous familial hypercholesterolaemia. Lancet 2012;379:1330.
-
(2012)
Lancet
, vol.379
, pp. 1330
-
-
Macchiaiolo, M.1
Gagliardi, M.G.2
Toscano, A.3
Guccione, P.4
Bartuli, A.5
-
16
-
-
85060691743
-
Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia
-
Gautschi M, Pavlovic M, Nuoffer JM. Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. JIMD Rep 2012;2:45-50.
-
(2012)
JIMD Rep
, vol.2
, pp. 45-50
-
-
Gautschi, M.1
Pavlovic, M.2
Nuoffer, J.M.3
-
17
-
-
84880626520
-
Cerebrotendinous xanthomatosis
-
Björkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol 2013;24:283-287.
-
(2013)
Curr Opin Lipidol
, vol.24
, pp. 283-287
-
-
Björkhem, I.1
-
18
-
-
43549085271
-
Sitosterolaemia: Pathophysiology clinical presentation and laboratory diagnosis
-
Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol 2008;61:588-594.
-
(2008)
J Clin Pathol
, vol.61
, pp. 588-594
-
-
Kidambi, S.1
Patel, S.B.2
-
19
-
-
84897946091
-
Premature atherosclerosis is not systematic in phytosterolemic patients: Severe hypercholesterolemia as a confounding factor in five subjects
-
Hansel B, Carrié A, Brun-Druc N, Leclert G, Chantepie S, Coiffard A-S, Kahn J-F, Chapman MJ, Bruckert B. Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. Atherosclerosis 2014;234:162-168.
-
(2014)
Atherosclerosis
, vol.234
, pp. 162-168
-
-
Hansel, B.1
Carrié, A.2
Brun-Druc, N.3
Leclert, G.4
Chantepie, S.5
Coiffard, A.-S.6
Kahn, J.-F.7
Chapman, M.J.8
Bruckert, B.9
-
20
-
-
0029964683
-
Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia
-
Schmidt HH, Hill S, Makariou EV, Feuerstein IM, Dugi KA, Hoeg JM. Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. Am J Cardiol 1996;77:575-580.
-
(1996)
Am J Cardiol
, vol.77
, pp. 575-580
-
-
Schmidt, H.H.1
Hill, S.2
Makariou, E.V.3
Feuerstein, I.M.4
Dugi, K.A.5
Hoeg, J.M.6
-
21
-
-
81355160365
-
Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy
-
Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ, Marais AD. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011;124:2202-2207.
-
(2011)
Circulation
, vol.124
, pp. 2202-2207
-
-
Raal, F.J.1
Pilcher, G.J.2
Panz, V.R.3
Van Deventer, H.E.4
Brice, B.C.5
Blom, D.J.6
Marais, A.D.7
-
22
-
-
0036516789
-
Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia
-
Al-Shaikh AM, Abdullah MH, Barclay A, Cullen-Dean G, McCrindle BW. Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia. Cardiol Young 2002;12:105-112.
-
(2002)
Cardiol Young
, vol.12
, pp. 105-112
-
-
Al-Shaikh, A.M.1
Abdullah, M.H.2
Barclay, A.3
Cullen-Dean, G.4
McCrindle, B.W.5
-
23
-
-
84864772507
-
Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment
-
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012;223:262-268.
-
(2012)
Atherosclerosis
, vol.223
, pp. 262-268
-
-
Raal, F.J.1
Santos, R.D.2
-
24
-
-
0029794262
-
Aortic stenosis in homozygous familial hypercholesterolaemia
-
Rallidis L, Nihoyannopoulos P, Thompson GR. Aortic stenosis in homozygous familial hypercholesterolaemia. Heart 1996;76:84-85.
-
(1996)
Heart
, vol.76
, pp. 84-85
-
-
Rallidis, L.1
Nihoyannopoulos, P.2
Thompson, G.R.3
-
25
-
-
84885037829
-
Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia
-
Rajendran R, Srinivasa KH, Rangan K, Hegde M, Ahmed N. Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia. Eur Heart J Cardiovasc Imaging 2013;14:1023.
-
(2013)
Eur Heart J Cardiovasc Imaging
, vol.14
, pp. 1023
-
-
Rajendran, R.1
Srinivasa, K.H.2
Rangan, K.3
Hegde, M.4
Ahmed, N.5
-
26
-
-
42249103629
-
Vascular calcifications in homozygote familial hypercholesterolemia
-
Awan Z, Alrasadi K, Francis GA, Hegele RA, McPherson R, Frohlich J, Valenti D, de Varennes B, Marcil M, Gagne C, Genest J, Couture P. Vascular calcifications in homozygote familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2008;28: 777-785.
-
(2008)
Arterioscler Thromb Vasc Biol
, vol.28
, pp. 777-785
-
-
Awan, Z.1
Alrasadi, K.2
Francis, G.A.3
Hegele, R.A.4
McPherson, R.5
Frohlich, J.6
Valenti, D.7
De Varennes, B.8
Marcil, M.9
Gagne, C.10
Genest, J.11
Couture, P.12
-
27
-
-
40949108372
-
Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography
-
Santos RD, Miname MH, Martinez LR, Rochitte CE, Chacra AP, Nakandakare ER, Chen D, Schaefer EJ. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Atheroslerosis 2008;197:910-915.
-
(2008)
Atheroslerosis
, vol.197
, pp. 910-915
-
-
Santos, R.D.1
Miname, M.H.2
Martinez, L.R.3
Rochitte, C.E.4
Chacra, A.P.5
Nakandakare, E.R.6
Chen, D.7
Schaefer, E.J.8
-
28
-
-
84878348092
-
Cardiac ct angiography in children with congenital heart disease
-
Siripornpitak S, Pornkul R, Khowsathit P, Layangool T, Promphan W, Pongpanich B. Cardiac CT angiography in children with congenital heart disease. Eur J Radiol 2013; 82:1067-1082.
-
(2013)
Eur J Radiol
, vol.82
, pp. 1067-1082
-
-
Siripornpitak, S.1
Pornkul, R.2
Khowsathit, P.3
Layangool, T.4
Promphan, W.5
Pongpanich, B.6
-
29
-
-
0032508353
-
Evaluation of the aortic root by mri: Insights from patients with homozygous familial hypercholesterolemia
-
Summers RM, Andrasko-Bourgeois J, Feuerstein IM, Hill SC, Jones EC, Busse MK, Wise B, Bove KE, Rishforth BA, Tucker E, Spray TL, Hoeg JM. Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. Circulation 1998;98:509-518.
-
(1998)
Circulation
, vol.98
, pp. 509-518
-
-
Summers, R.M.1
Andrasko-Bourgeois, J.2
Feuerstein, I.M.3
Hill, S.C.4
Jones, E.C.5
Busse, M.K.6
Wise, B.7
Bove, K.E.8
Rishforth, B.A.9
Tucker, E.10
Spray, T.L.11
Hoeg, J.M.12
-
30
-
-
33646267462
-
Aortic root involvement in homozygous familial hypercholesterolemia- transesophageal echocardiographic appearances of supravalvular aortic stenosis
-
Koh TW. Aortic root involvement in homozygous familial hypercholesterolemia- transesophageal echocardiographic appearances of supravalvular aortic stenosis. Echocardiography 2005;22:859-860.
-
(2005)
Echocardiography
, vol.22
, pp. 859-860
-
-
Koh, T.W.1
-
31
-
-
38549136555
-
Surgical strategies for severe calcification of the aorta (porcelain aorta) in two patients with homozygous familial hypercholesterolemia
-
Grenon SM, Lachapelle K, Marcil M, Omeroglu A, Genest J, de Varennes B. Surgical strategies for severe calcification of the aorta (porcelain aorta) in two patients with homozygous familial hypercholesterolemia. Can J Cardiol 2007;23:1159-1161.
-
(2007)
Can J Cardiol
, vol.23
, pp. 1159-1161
-
-
Grenon, S.M.1
Lachapelle, K.2
Marcil, M.3
Omeroglu, A.4
Genest, J.5
De Varennes, B.6
-
32
-
-
0031454724
-
Expanded-dose simvastatin is effective in homozygous familial hypercholesterolemia
-
Raal FJ, Pilcher GJ, Illingworth DR, Pappu AS, Stein EA, Laskarzewski P, Mitchel YB, Melino MR. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolemia. Atherosclerosis 1997;135:244-256.
-
(1997)
Atherosclerosis
, vol.135
, pp. 244-256
-
-
Raal, F.J.1
Pilcher, G.J.2
Illingworth, D.R.3
Pappu, A.S.4
Stein, E.A.5
Laskarzewski, P.6
Mitchel, Y.B.7
Melino, M.R.8
-
33
-
-
0034111843
-
Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolemia
-
Raal FJ, Pappu AS, Illingworth DR, Pilcher GJ, Marais AD, Firth JC, Kotze MJ, Heinonen TM, Black DM. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolemia. Atherosclerosis 2000;150:421-428.
-
(2000)
Atherosclerosis
, vol.150
, pp. 421-428
-
-
Raal, F.J.1
Pappu, A.S.2
Illingworth, D.R.3
Pilcher, G.J.4
Marais, A.D.5
Firth, J.C.6
Kotze, M.J.7
Heinonen, T.M.8
Black, D.M.9
-
34
-
-
39649084902
-
A dosetitration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolemia
-
Marais AD, Raal FJ, Stein EA, Rader DJ, Blasetto J, Palmer M, Wilpshaarf W. A dosetitration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolemia. Atherosclerosis 2008;197:400-406.
-
(2008)
Atherosclerosis
, vol.197
, pp. 400-406
-
-
Marais, A.D.1
Raal, F.J.2
Stein, E.A.3
Rader, D.J.4
Blasetto, J.5
Palmer, M.6
Wilpshaarf, W.7
-
36
-
-
0033776766
-
The effect of atorvastatin on serum lipids and lipoproteins in patients with homozyous familial hypercholesterolemia undergoing ldl-apheresis therapy
-
Yamamoto A, Harada-Shiba M, Kawaguchi A, Oi K, Kubo H, Sakai S, Mikami Y, Imai T, Ito T, Kato H, Endo M, Sato I, Suzuki Y, Hori H. The effect of atorvastatin on serum lipids and lipoproteins in patients with homozyous familial hypercholesterolemia undergoing LDL-apheresis therapy. Atherosclerosis 2000;153:89-98.
-
(2000)
Atherosclerosis
, vol.153
, pp. 89-98
-
-
Yamamoto, A.1
Harada-Shiba, M.2
Kawaguchi, A.3
Oi, K.4
Kubo, H.5
Sakai, S.6
Mikami, Y.7
Imai, T.8
Ito, T.9
Kato, H.10
Endo, M.11
Sato, I.12
Suzuki, Y.13
Hori, H.14
-
37
-
-
33748088504
-
Autosomal recessive hypercholesterolemia (arh) and homozygous familial hypercholesterolemia (fh): A phenotypic comparison
-
Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, Cantafora A, Arca M, Calandra S, Bertolini S. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 2006;188:398-405.
-
(2006)
Atherosclerosis
, vol.188
, pp. 398-405
-
-
Pisciotta, L.1
Priore Oliva, C.2
Pes, G.M.3
Di Scala, L.4
Bellocchio, A.5
Fresa, R.6
Cantafora, A.7
Arca, M.8
Calandra, S.9
Bertolini, S.10
-
38
-
-
0037188567
-
Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia
-
Gagne C, Gaudet D, Bruckert E. Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002;105:2469-2475.
-
(2002)
Circulation
, vol.105
, pp. 2469-2475
-
-
Gagne, C.1
Gaudet, D.2
Bruckert, E.3
-
39
-
-
44149123549
-
Recommendations for the use of ldl apheresis
-
Thompson GR, Barbir M, Davies D, Dobral P, Gesinde M, Livingston M, Mandry P, Matthews S, Neuwirth C, Pottle A, le Roux C, Scullard D, Stokes G, Tyler C, Watkins S. Recommendations for the use of LDL apheresis. Atherosclerosis 2008; 98:247-255.
-
(2008)
Atherosclerosis
, vol.98
, pp. 247-255
-
-
Thompson, G.R.1
Barbir, M.2
Davies, D.3
Dobral, P.4
Gesinde, M.5
Livingston, M.6
Mandry, P.7
Matthews, S.8
Neuwirth, C.9
Pottle, A.10
Le Roux, C.11
Scullard, D.12
Stokes, G.13
Tyler, C.14
Watkins, S.15
-
40
-
-
84871869008
-
Guidelines for the management of familial hypercholesterolemia
-
Harada-Shiba M, Arai H, Oikawa S, Ohta T, Okada T, Okamura T, Nohara A, Bujo H, Yokote K, Wakatsuki A, Ishibashi S, Yamashita S. Guidelines for the management of familial hypercholesterolemia. J Atheroscler Thromb 2012;19:1043-1060.
-
(2012)
J Atheroscler Thromb
, vol.19
, pp. 1043-1060
-
-
Harada-Shiba, M.1
Arai, H.2
Oikawa, S.3
Ohta, T.4
Okada, T.5
Okamura, T.6
Nohara, A.7
Bujo, H.8
Yokote, K.9
Wakatsuki, A.10
Ishibashi, S.11
Yamashita, S.12
-
41
-
-
79956267846
-
Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the national lipid association expert panel on familial hypercholesterolemia
-
National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
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 Hypercholesterolemia. 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:S1-S8.
-
(2011)
J Clin Lipidol
, vol.5
-
-
Goldberg, A.C.1
Hopkins, P.N.2
Toth, P.P.3
Ballantyne, C.M.4
Rader, D.J.5
Robinson, J.G.6
Daniels, S.R.7
Gidding, S.S.8
De Ferranti, S.D.9
Ito, M.K.10
McGowan, M.P.11
Moriarty, P.M.12
Cromwell, W.C.13
Ross, J.L.14
Ziajka, P.E.15
-
42
-
-
84872848174
-
Lipoprotein apheresis: State of the art and novelties
-
Stefanutti C, Julius U. Lipoprotein apheresis: state of the art and novelties. Atheroscler Suppl 2013;14:19-27.
-
(2013)
Atheroscler Suppl
, vol.14
, pp. 19-27
-
-
Stefanutti, C.1
Julius, U.2
-
44
-
-
0027455040
-
LDL-apheresis with dextran sulphate and anaphylactoid reactions to ace inhibitors
-
Keller C, Grützmacher P, Bahr F, Schwarzbeck A, Kroon AA, Kiral A. LDL-apheresis with dextran sulphate and anaphylactoid reactions to ACE inhibitors. Lancet 1993; 341:60-61.
-
(1993)
Lancet
, vol.341
, pp. 60-61
-
-
Keller, C.1
Grützmacher, P.2
Bahr, F.3
Schwarzbeck, A.4
Kroon, A.A.5
Kiral, A.6
-
45
-
-
81455141336
-
Lipid and low-density-lipoprotein apheresis. Effects on plasma inflammatory profile and on cytokine pattern in patients with severe dyslipidemia
-
Stefanutti C, Morozzi C, Petta A. Lipid and low-density-lipoprotein apheresis. Effects on plasma inflammatory profile and on cytokine pattern in patients with severe dyslipidemia. Cytokine 2011;56:842-849.
-
(2011)
Cytokine
, vol.56
, pp. 842-849
-
-
Stefanutti, C.1
Morozzi, C.2
Petta, A.3
-
46
-
-
63649093134
-
Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia
-
Coker M, Ucar SK, Simsek DG, Darcan S, Bak M, Can S. Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia. Ther Apher Dial 2009;13:121-128.
-
(2009)
Ther Apher Dial
, vol.13
, pp. 121-128
-
-
Coker, M.1
Ucar, S.K.2
Simsek, D.G.3
Darcan, S.4
Bak, M.5
Can, S.6
-
47
-
-
79951701629
-
Preemptive liver transplantation in a child with familial hypercholesterolemia
-
Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Preemptive liver transplantation in a child with familial hypercholesterolemia. Pediatr Transplant 2011;15:E25-E29.
-
(2011)
Pediatr Transplant
, vol.15
-
-
Maiorana, A.1
Nobili, V.2
Calandra, S.3
Francalanci, P.4
Bernabei, S.5
El Hachem, M.6
Monti, L.7
Gennari, F.8
Torre, G.9
De Ville De Goyet, J.10
Bartuli, A.11
-
48
-
-
84865837145
-
Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively
-
Ibrahim M, El-Hamamsy I, Barbir M, Yacoub MH. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J Cardiovasc Transl Res 2012;5:351-358.
-
(2012)
J Cardiovasc Transl Res
, vol.5
, pp. 351-358
-
-
Ibrahim, M.1
El-Hamamsy, I.2
Barbir, M.3
Yacoub, M.H.4
-
49
-
-
79955000769
-
Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia
-
Kucukkartallar T, Yankol Y, Kanmaz T, Topaloglu S, Acarli K, Kalayoglu M. Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia. Pediatr Transplant 2011;15:281-284.
-
(2011)
Pediatr Transplant
, vol.15
, pp. 281-284
-
-
Kucukkartallar, T.1
Yankol, Y.2
Kanmaz, T.3
Topaloglu, S.4
Acarli, K.5
Kalayoglu, M.6
-
50
-
-
79951667867
-
Liver transplantation as treatment for familial homozygous hypercholesterolemia: Too early or too late
-
Malatack JJ. Liver transplantation as treatment for familial homozygous hypercholesterolemia: too early or too late. Pediatr Transplant 2011;15:123-125.
-
(2011)
Pediatr Transplant
, vol.15
, pp. 123-125
-
-
Malatack, J.J.1
-
51
-
-
84880668457
-
Clinical pharmacological properties of mipomersen (kynamro), a second generation antisense inhibitor of apolipoprotein b
-
Crooke ST, Geary RS. Clinical pharmacological properties of mipomersen (Kynamro), a second generation antisense inhibitor of apolipoprotein B. Br J Clin Pharmacol 2013;76:269-276.
-
(2013)
Br J Clin Pharmacol
, vol.76
, pp. 269-276
-
-
Crooke, S.T.1
Geary, R.S.2
-
52
-
-
33846151732
-
Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia
-
Cuchel M, Bloedon LT, Szapary PO, Kolansky DM, Wolfe ML, Sarkis A, Millar JS, Ikewaki K, Siegelman ES, Gregg RE, Rader DJ. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med 2007;356:148-156.
-
(2007)
N Engl J Med
, vol.356
, pp. 148-156
-
-
Cuchel, M.1
Bloedon, L.T.2
Szapary, P.O.3
Kolansky, D.M.4
Wolfe, M.L.5
Sarkis, A.6
Millar, J.S.7
Ikewaki, K.8
Siegelman, E.S.9
Gregg, R.E.10
Rader, D.J.11
-
53
-
-
84857133310
-
Multiple functions of microsomal triglyceride transfer protein
-
Hussain MM, Rava P, Walsh M, Rana M, Iqbal J. Multiple functions of microsomal triglyceride transfer protein. Nutr Metab (Lond) 2012;9:14.
-
(2012)
Nutr Metab (Lond)
, vol.9
, pp. 14
-
-
Hussain, M.M.1
Rava, P.2
Walsh, M.3
Rana, M.4
Iqbal, J.5
-
54
-
-
77949485460
-
Mipomersen, an apolipoprotein b synthesis inhibitor, for lowering of ldlcholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, doubleblind, placebo-controlled trial
-
Raal FJ, Santos RD, Blom DJ, Marais AD, Charng MJ, Cromwell WC, Lachmann RH, Gaudet D, Tan JL, Chasan-Taber S, Tribble DL, Flaim JD, Crooke ST. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDLcholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, doubleblind, placebo-controlled trial. Lancet 2010;375:998-1006.
-
(2010)
Lancet
, vol.375
, pp. 998-1006
-
-
Raal, F.J.1
Santos, R.D.2
Blom, D.J.3
Marais, A.D.4
Charng, M.J.5
Cromwell, W.C.6
Lachmann, R.H.7
Gaudet, D.8
Tan, J.L.9
Chasan-Taber, S.10
Tribble, D.L.11
Flaim, J.D.12
Crooke, S.T.13
-
55
-
-
84868518061
-
Apolipoprotein b synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: Results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery disease
-
Stein EA, Dufour R, Gagne C, Gaudet D, East C, Donovan JM, Chin W, Tribble DL, McGowan M. Apolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery disease. Circulation 2012;126:2283-2292.
-
(2012)
Circulation
, vol.126
, pp. 2283-2292
-
-
Stein, E.A.1
Dufour, R.2
Gagne, C.3
Gaudet, D.4
East, C.5
Donovan, J.M.6
Chin, W.7
Tribble, D.L.8
McGowan, M.9
-
56
-
-
84869220345
-
Low-density lipoprotein cholesterol-lowering effects of amg 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: The reduction of ldl-c with pcsk9 inhibition in heterozygous familial hypercholesterolemia disorder (rutherford) randomized trial
-
Raal F, Scott R, Somaratne R, Bridges I, Li G, Wasserman SM, Stein EA. Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD) randomized trial. Circulation 2012;126:2408-2417.
-
(2012)
Circulation
, vol.126
, pp. 2408-2417
-
-
Raal, F.1
Scott, R.2
Somaratne, R.3
Bridges, I.4
Li, G.5
Wasserman, S.M.6
Stein, E.A.7
-
57
-
-
84863494422
-
Effect of a monoclonal antibody to pcsk9, regn727/sar236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial
-
Stein EA, Gipe D, Bergeron J, Gaudet D, Weiss R, Dufour R, Wu R, Pordy R. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial. Lancet 2012;380:29-36.
-
(2012)
Lancet
, vol.380
, pp. 29-36
-
-
Stein, E.A.1
Gipe, D.2
Bergeron, J.3
Gaudet, D.4
Weiss, R.5
Dufour, R.6
Wu, R.7
Pordy, R.8
-
58
-
-
84887164358
-
Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, amg 145, in homozygous familial hypercholesterolemia
-
Stein EA, Honarpour N, Wasserman SM, Xu F, Scott R, Raal FJ. Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. Circulation 2013;128:2113-2120.
-
(2013)
Circulation
, vol.128
, pp. 2113-2120
-
-
Stein, E.A.1
Honarpour, N.2
Wasserman, S.M.3
Xu, F.4
Scott, R.5
Raal, F.J.6
-
59
-
-
84906686571
-
Trial evaluating evolocumab, a pcsk9 antibody, in patients with homozygous fh (tesla): Results of the randomized, double-blind placebo-controlled trial
-
[abstract]. DOI:10.1016/j.atherosclerosis.2014.05.004
-
Raal F, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, Wasserman SM, Stein EA. Trial evaluating evolocumab, a PCSK9 antibody, in patients with homozygous FH (TESLA): Results of the randomized, double-blind placebo-controlled trial. Atherosclerosis 2014;235:e12 [abstract]. DOI:10.1016/j.atherosclerosis.2014.05.004.
-
(2014)
Atherosclerosis
, vol.235
-
-
Raal, F.1
Honarpour, N.2
Blom, D.J.3
Hovingh, G.K.4
Xu, F.5
Scott, R.6
Wasserman, S.M.7
Stein, E.A.8
-
60
-
-
84879315149
-
Elevated pcsk9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therapy
-
Raal F, Panz V, Immelman A, Pilcher G. Elevated PCSK9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therapy. J Am Heart Assoc 2013;2:e000028.
-
(2013)
J Am Heart Assoc
, vol.2
-
-
Raal, F.1
Panz, V.2
Immelman, A.3
Pilcher, G.4
-
61
-
-
33644839739
-
Effects of the cholesteryl ester transfer protein inhibitor torcetrapib on apolipoprotein b100 metabolism in humans
-
Millar JS, Brousseau ME, Diffenderfer MR, Barrett PH, Welty FK, Faruqi A, Wolfe ML, Nartsupha C, Digenio AG, Mancuso JP, Dolnikowski GG, Schaefer EJ, Rader DJ. Effects of the cholesteryl ester transfer protein inhibitor torcetrapib on apolipoprotein B100 metabolism in humans. Arterioscler Thromb Vasc Biol 2006;26:1350-1356.
-
(2006)
Arterioscler Thromb Vasc Biol
, vol.26
, pp. 1350-1356
-
-
Millar, J.S.1
Brousseau, M.E.2
Diffenderfer, M.R.3
Barrett, P.H.4
Welty, F.K.5
Faruqi, A.6
Wolfe, M.L.7
Nartsupha, C.8
Digenio, A.G.9
Mancuso, J.P.10
Dolnikowski, G.G.11
Schaefer, E.J.12
Rader, D.J.13
-
62
-
-
84893868069
-
Torcetrapib/atorvastatin substantially raises hdl-c and markedly lowers ldl-c in patients with homozygous familial hypercholesterolemia
-
(Abstract P023-764)
-
Raal FJ, Marais AD, Gagne C, Gaudet D, Viljoen J, Hemphill L, Durham K, Thuren T, Shear C. Torcetrapib/atorvastatin substantially raises HDL-C and markedly lowers LDL-C in patients with homozygous familial hypercholesterolemia. Atherosclerosis Suppl 2007;8:204 (Abstract P023-764).
-
(2007)
Atherosclerosis Suppl
, vol.8
, pp. 204
-
-
Raal, F.J.1
Marais, A.D.2
Gagne, C.3
Gaudet, D.4
Viljoen, J.5
Hemphill, L.6
Durham, K.7
Thuren, T.8
Shear, C.9
-
63
-
-
0028793489
-
A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia
-
Grossman M, Rader DJ, Muller DW, Kolansky DM, Kozarsky K, Clark BJ 3rd, Stein A, Lupien PJ, Brewer HB Jr, Raper SE. A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia. Nat Med 1995;1:1148-1154.
-
(1995)
Nat Med
, vol.1
, pp. 1148-1154
-
-
Grossman, M.1
Rader, D.J.2
Muller, D.W.3
Kolansky, D.M.4
Kozarsky, K.5
Clark III, B.J.6
Stein, A.7
Lupien, P.J.8
Brewer Jr., H.B.9
Raper, S.E.10
-
64
-
-
84872773410
-
Adeno-associated virus serotype 8 gene therapy leads to significant lowering of plasma cholesterol levels in humanized mouse models of homozygous and heterozygous familial hypercholesterolemia
-
Kassim SH, Li H, Bell P, Somanathan S, Lagor W, Jacobs F, Billheimer J, Wilson JM, Rader DJ. Adeno-associated virus serotype 8 gene therapy leads to significant lowering of plasma cholesterol levels in humanized mouse models of homozygous and heterozygous familial hypercholesterolemia. Hum Gene Ther 2013;24:19-26.
-
(2013)
Hum Gene Ther
, vol.24
, pp. 19-26
-
-
Kassim, S.H.1
Li, H.2
Bell, P.3
Somanathan, S.4
Lagor, W.5
Jacobs, F.6
Billheimer, J.7
Wilson, J.M.8
Rader, D.J.9
-
65
-
-
66649088300
-
Adults with congenital heart disease: Psychological needs and treatment preferences
-
Kovacs AH, Bendell KL, Colman J, Harrison JL, Oechslin E, Silversides C. Adults with congenital heart disease: psychological needs and treatment preferences. Congenit Heart Dis 2009;4:139-146.
-
(2009)
Congenit Heart Dis
, vol.4
, pp. 139-146
-
-
Kovacs, A.H.1
Bendell, K.L.2
Colman, J.3
Harrison, J.L.4
Oechslin, E.5
Silversides, C.6
-
66
-
-
0037484316
-
Effects of maternal hypercholesterolemia on pregnancy and development of offspring
-
De Assis SM, Seguro AC, Helou CM. Effects of maternal hypercholesterolemia on pregnancy and development of offspring. Pediatr Nephrol 2003;18:328-334.
-
(2003)
Pediatr Nephrol
, vol.18
, pp. 328-334
-
-
De Assis, S.M.1
Seguro, A.C.2
Helou, C.M.3
-
67
-
-
0032824022
-
High body mass index and hypercholesterolemia: Risk of hypertensive disorders of pregnancy
-
Thadhani R, Stampfer MJ, Hunter DJ, Manson JE, Solomon CG, Curhan GC. High body mass index and hypercholesterolemia: risk of hypertensive disorders of pregnancy. Obstet Gynecol 1999;94:543-550.
-
(1999)
Obstet Gynecol
, vol.94
, pp. 543-550
-
-
Thadhani, R.1
Stampfer, M.J.2
Hunter, D.J.3
Manson, J.E.4
Solomon, C.G.5
Curhan, G.C.6
-
68
-
-
84893647246
-
Integrated guidance on the care of familial hypercholesterolaemia from the international fh foundation
-
Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014;171:309-325.
-
(2014)
Int J Cardiol
, vol.171
, pp. 309-325
-
-
Watts, G.F.1
Gidding, S.2
Wierzbicki, A.S.3
Toth, P.P.4
Alonso, R.5
Brown, W.V.6
Bruckert, E.7
Defesche, J.8
Lin, K.K.9
Livingston, M.10
Mata, P.11
Parhofer, K.G.12
Raal, F.J.13
Santos, R.D.14
Sijbrands, E.J.15
Simpson, W.G.16
Sullivan, D.R.17
Susekov, A.V.18
Tomlinson, B.19
Wiegman, A.20
Yamashita, S.21
Kastelein, J.J.22
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