-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Sly WS, Childs B, et al. eds. 8th ed. New York, New York: McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Sly WS, Childs B, et al. eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, New York: McGraw-Hill; 2001:2863-2913.
-
(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
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-156.
-
(2003)
Nat Genet
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabès, J.P.3
Allard, D.4
Ouguerram, K.5
Devillers, M.6
Cruaud, C.7
Benjannet, S.8
Wickham, L.9
Erlich, D.10
Derré, A.11
Villéger, L.12
Farnier, M.13
Beucler, I.14
Bruckert, E.15
Chambaz, J.16
Chanu, B.17
Lecerf, J.M.18
Luc, G.19
Moulin, P.20
Weissenbach, J.21
Prat, A.22
Krempf, M.23
Junien, C.24
Seidah, N.G.25
Boileau, C.26
more..
-
3
-
-
0041743167
-
Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
-
Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003;111:1795-1803.
-
(2003)
J Clin Invest
, vol.111
, pp. 1795-1803
-
-
Rader, D.J.1
Cohen, J.2
Hobbs, H.H.3
-
4
-
-
84865076877
-
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: Update and pathological assessment
-
Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet. 2012;76:387-401.
-
(2012)
Ann Hum Genet
, vol.76
, pp. 387-401
-
-
Usifo, E.1
Leigh, S.E.2
Whittall, R.A.3
Lench, N.4
Taylor, A.5
Yeats, C.6
Orengo, C.A.7
Martin, A.C.8
Celli, J.9
Humphries, S.E.10
-
5
-
-
39649084902
-
A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia
-
Marais AD, Raal FJ, Stein EA, Rader DJ, Blasetto J, Palmer M, Wilpshaar W. A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia. 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
Wilpshaar, W.7
-
6
-
-
0031454724
-
Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia
-
Raal FJ, Pilcher GJ, Illingworth DR, Pappu AS, Stein EA, Laskarzewski P, Mitchel YB, Melino MR. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia. Atherosclerosis. 1997;135:249-256.
-
(1997)
Atherosclerosis
, vol.135
, pp. 249-256
-
-
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
-
7
-
-
0037188567
-
Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia
-
Ezetimibe Study Group
-
Gagné C, Gaudet D, Bruckert E; Ezetimibe Study Group. 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
-
-
Gagné, C.1
Gaudet, D.2
Bruckert, E.3
-
8
-
-
54549104832
-
Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia
-
Hudgins LC, Kleinman B, Scheuer A, White S, Gordon BR. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol. 2008;102:1199-1204.
-
(2008)
Am J Cardiol
, vol.102
, pp. 1199-1204
-
-
Hudgins, L.C.1
Kleinman, B.2
Scheuer, A.3
White, S.4
Gordon, B.R.5
-
9
-
-
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
-
12
-
-
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
-
13
-
-
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
-
14
-
-
59649121269
-
Other therapies for reducing low-density lipoprotein cholesterol: Medications in development
-
Stein EA. Other therapies for reducing low-density lipoprotein cholesterol: medications in development. Endocrinol Metab Clin North Am. 2009;38:99-119.
-
(2009)
Endocrinol Metab Clin North Am
, vol.38
, pp. 99-119
-
-
Stein, E.A.1
-
15
-
-
77949485460
-
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, 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 LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, 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
-
16
-
-
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
-
17
-
-
0030972796
-
The rule of 5 and the rule of 7 in lipid-lowering by statin drugs
-
Roberts WC. The rule of 5 and the rule of 7 in lipid-lowering by statin drugs. Am J Cardiol. 1997;80:106-107.
-
(1997)
Am J Cardiol
, vol.80
, pp. 106-107
-
-
Roberts, W.C.1
-
18
-
-
84862219022
-
Safety and efficacy of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease, SAR236553/REGN727, in patients with primary hypercholesterolemia receiving ongoing stable atorvastatin therapy
-
McKenney JM, Koren MJ, Kereiakes DJ, Hanotin C, Ferrand AC, Stein EA. Safety and efficacy of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease, SAR236553/REGN727, in patients with primary hypercholesterolemia receiving ongoing stable atorvastatin therapy. J Am Coll Cardiol. 2012;59:2344-2353.
-
(2012)
J Am Coll Cardiol
, vol.59
, pp. 2344-2353
-
-
McKenney, J.M.1
Koren, M.J.2
Kereiakes, D.J.3
Hanotin, C.4
Ferrand, A.C.5
Stein, E.A.6
-
19
-
-
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
-
20
-
-
84858638369
-
Effect of a monoclonal antibody to PCSK9 on LDL cholesterol
-
Stein EA, Mellis S, Yancopoulos GD, Stahl N, Logan D, Smith WB, Lisbon E, Gutierrez M, Webb C, Wu R, Du Y, Kranz T, Gasparino E, Swergold GD. Effect of a monoclonal antibody to PCSK9 on LDL cholesterol. N Engl J Med. 2012;366:1108-1118.
-
(2012)
N Engl J Med
, vol.366
, pp. 1108-1118
-
-
Stein, E.A.1
Mellis, S.2
Yancopoulos, G.D.3
Stahl, N.4
Logan, D.5
Smith, W.B.6
Lisbon, E.7
Gutierrez, M.8
Webb, C.9
Wu, R.10
Du, Y.11
Kranz, T.12
Gasparino, E.13
Swergold, G.D.14
-
21
-
-
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
-
22
-
-
27444447294
-
Lipoprotein(a) is an independent risk factor for cardiovascular disease in heterozygous familial hypercholesterolemia
-
Holmes DT, Schick BA, Humphries KH, Frohlich J. Lipoprotein(a) is an independent risk factor for cardiovascular disease in heterozygous familial hypercholesterolemia. Clin Chem. 2005;51:2067-2073.
-
(2005)
Clin Chem
, vol.51
, pp. 2067-2073
-
-
Holmes, D.T.1
Schick, B.A.2
Humphries, K.H.3
Frohlich, J.4
-
23
-
-
84870494510
-
Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 as monotherapy in patients with hypercholesterolaemia (MENDEL): A randomised, doubleblind, placebo-controlled, phase 2 study
-
Koren MJ, Scott R, Kim JB, Knusel B, Liu T, Lei L, Bolognese M, Wasserman SM. Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 as monotherapy in patients with hypercholesterolaemia (MENDEL): a randomised, doubleblind, placebo-controlled, phase 2 study. Lancet. 2012;380:1995-2006.
-
(2012)
Lancet
, vol.380
, pp. 1995-2006
-
-
Koren, M.J.1
Scott, R.2
Kim, J.B.3
Knusel, B.4
Liu, T.5
Lei, L.6
Bolognese, M.7
Wasserman, S.M.8
-
24
-
-
84879079456
-
Transintestinal cholesterol excretion is an active metabolic process modulated by PCSK9 and statin involving ABCB1
-
Le May C, Berger JM, Lespine A, Pillot B, Prieur X, Letessier E, Hussain MM, Collet X, Cariou B, Costet P. Transintestinal cholesterol excretion is an active metabolic process modulated by PCSK9 and statin involving ABCB1. Arterioscler Thromb Vasc Biol. 2013;33:1484-1493.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 1484-1493
-
-
Le May, C.1
Berger, J.M.2
Lespine, A.3
Pillot, B.4
Prieur, X.5
Letessier, E.6
Hussain, M.M.7
Collet, X.8
Cariou, B.9
Costet, P.10
-
25
-
-
84870478439
-
Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): A randomised, placebocontrolled, dose-ranging, phase 2 study
-
LAPLACE-TIMI 57 Investigators
-
Giugliano RP, Desai NR, Kohli P, Rogers WJ, Somaratne R, Huang F, Liu T, Mohanavelu S, Hoffman EB, McDonald ST, Abrahamsen TE, Wasserman SM, Scott R, Sabatine MS; LAPLACE-TIMI 57 Investigators. Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): a randomised, placebocontrolled, dose-ranging, phase 2 study. Lancet. 2012;380:2007-2017.
-
(2012)
Lancet
, vol.380
, pp. 2007-2017
-
-
Giugliano, R.P.1
Desai, N.R.2
Kohli, P.3
Rogers, W.J.4
Somaratne, R.5
Huang, F.6
Liu, T.7
Mohanavelu, S.8
Hoffman, E.B.9
McDonald, S.T.10
Abrahamsen, T.E.11
Wasserman, S.M.12
Scott, R.13
Sabatine, M.S.14
-
26
-
-
84871326497
-
Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: The GAUSS randomized trial
-
Sullivan D, Olsson AG, Scott R, Kim JB, Xue A, Gebski V, Wasserman SM, Stein EA. Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: the GAUSS randomized trial. JAMA. 2012;308:2497-2506.
-
(2012)
JAMA
, vol.308
, pp. 2497-2506
-
-
Sullivan, D.1
Olsson, A.G.2
Scott, R.3
Kim, J.B.4
Xue, A.5
Gebski, V.6
Wasserman, S.M.7
Stein, E.A.8
-
27
-
-
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
-
28
-
-
48349088178
-
Inhibition of microsomal triglyceride transfer protein alone or with ezetimibe in patients with moderate hypercholesterolemia
-
Samaha FF, McKenney J, Bloedon LT, Sasiela WJ, Rader DJ. Inhibition of microsomal triglyceride transfer protein alone or with ezetimibe in patients with moderate hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2008;5:497-505.
-
(2008)
Nat Clin Pract Cardiovasc Med
, vol.5
, pp. 497-505
-
-
Samaha, F.F.1
McKenney, J.2
Bloedon, L.T.3
Sasiela, W.J.4
Rader, D.J.5
-
29
-
-
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, Tribble D, Donovan JM, Chin W, Mcgowan. 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
Tribble, D.6
Donovan, J.M.7
Chin, W.8
McGowan9
|