-
1
-
-
0141669265
-
Differences in clinical presentation between subjects with a phenotype of familial hypercholesterolemia determined by defects in the LDL-receptor and defects in Apo B-100
-
Ignacio García-Álvarez, Sergio Castitto, Pilar Mozas i sur. Differences in clinical presentation between subjects with a phenotype of familial hypercholesterolemia determined by defects in the LDL-receptor and defects in Apo B-100. Rev Esp Cardiol 2003;56:769-74.
-
(2003)
Rev Esp Cardiol
, vol.56
, pp. 769-774
-
-
García-Álvarez, I.1
Castitto, S.2
Mozas, P.3
-
2
-
-
0033044612
-
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia
-
Bertolini S, Cassanelli S, Garuti R i sur. Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1999;19(2):408-18.
-
(1999)
Arterioscler Thromb Vasc Biol
, vol.19
, Issue.2
, pp. 408-418
-
-
Bertolini, S.1
Cassanelli, S.2
Garuti, R.3
-
3
-
-
27544438206
-
Genski poremećaji serumskih lipoproteina
-
Reiner Ž. Genski poremećaji serumskih lipoproteina. Paediatr Croat 2005;49:133-9.
-
(2005)
Paediatr Croat
, vol.49
, pp. 133-139
-
-
Reiner, Z.1
-
4
-
-
2942685885
-
Xanthomas: A marker for hyperlipidemias
-
Lugo-Somolinos A, Sanchez JE. Xanthomas: a marker for hyperlipidemias. Bol Asoc Med P R 2003;95(4):12-6.
-
(2003)
Bol Asoc Med P R
, vol.95
, Issue.4
, pp. 12-16
-
-
Lugo-Somolinos, A.1
Sanchez, J.E.2
-
5
-
-
4344624583
-
Supravalvular aortic stenosis and coronary ostial stenosis in homozygous familial hypercholesterolemia
-
Srimannarayana J, Varma RS, Satheesh S, Anilkumar R, Balachander J. Supravalvular aortic stenosis and coronary ostial stenosis in homozygous familial hypercholesterolemia. Indian Heart J 2004;56:152-4.
-
(2004)
Indian Heart J
, vol.56
, pp. 152-154
-
-
Srimannarayana, J.1
Varma, R.S.2
Satheesh, S.3
Anilkumar, R.4
Balachander, J.5
-
6
-
-
0024494608
-
Genetic aspects of familial hypercholesterolemia and its diagnosis
-
Motulsky AG. Genetic aspects of familial hypercholesterolemia and its diagnosis. Arteriosclerosis 1989;9(Suppl 2):I3-7.
-
(1989)
Arteriosclerosis
, vol.9
, Issue.SUPPL. 2
-
-
Motulsky, A.G.1
-
7
-
-
0009040551
-
Genetic heterogeneity in familial hypercholesterolemia: Evidence for two different mutations affecting functions of low-density lipoprotein receptor
-
Goldstein JL, Dana SE, Brunschede GY, Brown MS. Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor. Proc Natl Acad Sci USA 1975;72(3):1092-6.
-
(1975)
Proc Natl Acad Sci USA
, vol.72
, Issue.3
, pp. 1092-1096
-
-
Goldstein, J.L.1
Dana, S.E.2
Brunschede, G.Y.3
Brown, M.S.4
-
8
-
-
0029094386
-
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Miserez AR, Keller U. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995;15(10):1719-29.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, Issue.10
, pp. 1719-1729
-
-
Miserez, A.R.1
Keller, U.2
-
9
-
-
0017087607
-
Binding, internalization, and degradation of low density lipoprotein by normal human fibroblasts and by fibroblasts from a case of homozygous familial hypercholesterolemia
-
Stein O, Weinstein DB, Stein Y, Steinberg D. Binding, internalization, and degradation of low density lipoprotein by normal human fibroblasts and by fibroblasts from a case of homozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 1976;73(1):14-8.
-
(1976)
Proc Natl Acad Sci USA
, vol.73
, Issue.1
, pp. 14-18
-
-
Stein, O.1
Weinstein, D.B.2
Stein, Y.3
Steinberg, D.4
-
10
-
-
0021363535
-
Characterization of hepatic low density lipoprotein binding and cholesterol metabolism in normal and homozygous familial hypercholesterolemic subjects
-
Hoeg JM, Demosky SJ Jr, Schaefer EJ, Starzl TE, Brewer HB Jr. Characterization of hepatic low density lipoprotein binding and cholesterol metabolism in normal and homozygous familial hypercholesterolemic subjects. J Clin Invest 1984;73(2):429-36.
-
(1984)
J Clin Invest
, vol.73
, Issue.2
, pp. 429-436
-
-
Hoeg, J.M.1
Demosky Jr, S.J.2
Schaefer, E.J.3
Starzl, T.E.4
Brewer Jr, H.B.5
-
11
-
-
0030948955
-
Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1997;17(5):826-33.
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, Issue.5
, pp. 826-833
-
-
Pimstone, S.N.1
Defesche, J.C.2
Clee, S.M.3
Bakker, H.D.4
Hayden, M.R.5
Kastelein, J.J.6
-
12
-
-
34547217190
-
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison
-
Dec 8; [Epub ahead of print
-
Pisciotta L, Oliva CP, Pes GM i sur. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison. Atherosclerosis 2005 Dec 8; [Epub ahead of print].
-
(2005)
Atherosclerosis
-
-
Pisciotta, L.1
Oliva, C.P.2
Pes, G.M.3
-
13
-
-
3342978239
-
A boy with autosomal recessive hypercholesterolaemia
-
Rodenburg J, Wiegman A, Vissers MN, Kastelein JJP, Stalenhoef AFH. A boy with autosomal recessive hypercholesterolaemia. Neth J Med 2004;61 (3):89-93.
-
(2004)
Neth J Med
, vol.61
, Issue.3
, pp. 89-93
-
-
Rodenburg, J.1
Wiegman, A.2
Vissers, M.N.3
Kastelein, J.J.P.4
Stalenhoef, A.F.H.5
-
14
-
-
0020445355
-
Low density lipoprotein receptor activity in homozygous familial hypercholesterolemia fibroblasts
-
Semenkovich CF, Ostlund RE Jr, Levy RA, Osa SR. Low density lipoprotein receptor activity in homozygous familial hypercholesterolemia fibroblasts. J Biol Chem 1982;257(21):12857-6.
-
(1982)
J Biol Chem
, vol.257
, Issue.21
, pp. 12857-12856
-
-
Semenkovich, C.F.1
Ostlund Jr, R.E.2
Levy, R.A.3
Osa, S.R.4
-
15
-
-
0031951645
-
VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100
-
Zulewski H, Ninnis R, Miserez AR, Baumstark MW, Keller. VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100. J Lipid Res 1998;39(2):380-7.
-
(1998)
J Lipid Res
, vol.39
, Issue.2
, pp. 380-387
-
-
Zulewski, H.1
Ninnis, R.2
Miserez, A.R.3
Baumstark, M.W.4
Keller5
-
16
-
-
20044387775
-
Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production
-
Millar JS, Mangeais C, Ikewaki K i sur. Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. Arterioscler Thromb Vasc Biol 2005;25(3):560-5.
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, Issue.3
, pp. 560-565
-
-
Millar, J.S.1
Mangeais, C.2
Ikewaki, K.3
-
17
-
-
2142713910
-
Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation
-
Tremblay AJ, Lamarche B, Ruel IL i sur. Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. J Lipid Res 2004;45(5):866-72.
-
(2004)
J Lipid Res
, vol.45
, Issue.5
, pp. 866-872
-
-
Tremblay, A.J.1
Lamarche, B.2
Ruel, I.L.3
-
18
-
-
0035099919
-
Familial homozygous hypercholesterolemia: Effective long-term treatment with cascade double filtration plasmapheresis
-
Demetriou K, H'Maltezou E, Pierides AM. Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis. Blood Purif 2001;19(3):308-13.
-
(2001)
Blood Purif
, vol.19
, Issue.3
, pp. 308-313
-
-
Demetriou, K.1
H'Maltezou, E.2
Pierides, A.M.3
-
19
-
-
4043093508
-
Current management of severe homozygous hypercholesterolaemias
-
Naoumova RP, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 2004;15(4):413-22.
-
(2004)
Curr Opin Lipidol
, vol.15
, Issue.4
, pp. 413-422
-
-
Naoumova, R.P.1
Thompson, G.R.2
Soutar, A.K.3
-
20
-
-
0037188567
-
Ezetimibe Study Group. Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia
-
Gagne C, Gaudel 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(21):2469- 75.
-
(2002)
Circulation
, vol.105
, Issue.21
, pp. 2469-2475
-
-
Gagne, C.1
Gaudel, D.2
Bruckert, E.3
-
21
-
-
0344896639
-
Avasimibe, an ACAT inhibitor, enhances the lipid lowering effect of atorvastatin in subjects with homozygous familial hypercholesterolemia
-
Raal FJ, Marais AD, Klepack E, Lovalvo J, McLain R, Heinonen T. Avasimibe, an ACAT inhibitor, enhances the lipid lowering effect of atorvastatin in subjects with homozygous familial hypercholesterolemia. Atherosclerosis 2003;171(2):273-9.
-
(2003)
Atherosclerosis
, vol.171
, Issue.2
, pp. 273-279
-
-
Raal, F.J.1
Marais, A.D.2
Klepack, E.3
Lovalvo, J.4
McLain, R.5
Heinonen, T.6
-
22
-
-
0020698924
-
Treatment of familial hypercholesterolemia by portacaval anastomosis: Effect on cholesterol metabolism and pool sizes
-
McNamara DJ, Ahrens EH Jr, Kolb R i sur. Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes. Proc Natl Acad Sci USA 1983;80(2):564-8.
-
(1983)
Proc Natl Acad Sci USA
, vol.80
, Issue.2
, pp. 564-568
-
-
McNamara, D.J.1
Ahrens Jr, E.H.2
Kolb, R.3
-
23
-
-
8444234306
-
Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas : Response to liver transplantation
-
Moyle M, Tate B. Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas : response to liver transplantation. Austral J Dermatol 2004;45(4):226-8.
-
(2004)
Austral J Dermatol
, vol.45
, Issue.4
, pp. 226-228
-
-
Moyle, M.1
Tate, B.2
-
24
-
-
12944286628
-
Liver transplantation in patients with homozygotic familial hypercholesterolemia previously treated by end-to-side portocaval shunt and ileal bypass
-
Lopez-Santamaria M, Migliazza L, Gamez M i sur. Liver transplantation in patients with homozygotic familial hypercholesterolemia previously treated by end-to-side portocaval shunt and ileal bypass. J Pediatr Surg 2000;35(4):630-3.
-
(2000)
J Pediatr Surg
, vol.35
, Issue.4
, pp. 630-633
-
-
Lopez-Santamaria, M.1
Migliazza, L.2
Gamez, M.3
-
25
-
-
33644972704
-
Long-term effects of LDL apheresis in patients with severe hypercholesterolemia
-
Sachais BS, Katz J, Ross J, Rader DJ. Long-term effects of LDL apheresis in patients with severe hypercholesterolemia. J Clin Apheresis 2005;20(4):252-5.
-
(2005)
J Clin Apheresis
, vol.20
, Issue.4
, pp. 252-255
-
-
Sachais, B.S.1
Katz, J.2
Ross, J.3
Rader, D.J.4
-
26
-
-
0034011037
-
Long-term efficacy of lipoprotein apheresis in homozygous familial hypercholesterolaemia
-
Meier P, Blanc E. Long-term efficacy of lipoprotein apheresis in homozygous familial hypercholesterolaemia. Nephrol Dial Transplant 2000; 15(5):738-40.
-
(2000)
Nephrol Dial Transplant
, vol.15
, Issue.5
, pp. 738-740
-
-
Meier, P.1
Blanc, E.2
-
27
-
-
3442880705
-
Effect of different LDL-apheresis methods on parameters involved in atherosclerosis
-
Hershcovici T, Schechner V, Orlin J, Harell D, Beigel Y. Effect of different LDL-apheresis methods on parameters involved in atherosclerosis. J Clin Apheresis 2004;19(2):90-7.
-
(2004)
J Clin Apheresis
, vol.19
, Issue.2
, pp. 90-97
-
-
Hershcovici, T.1
Schechner, V.2
Orlin, J.3
Harell, D.4
Beigel, Y.5
-
28
-
-
85056022943
-
Third Joint Task Force
-
European guidelines on cardiovascular disease prevention in clinical practice
-
European guidelines on cardiovascular disease prevention in clinical practice. Third Joint Task Force. Eur J Cardiovasc Prev Rehabil 2003; 10(Suppl 1):S2-S63.
-
(2003)
Eur J Cardiovasc Prev Rehabil
, vol.10
, Issue.SUPPL. 1
-
-
-
29
-
-
0022423944
-
-
Lowering blood cholesterol to prevent heart disease. JAMA
-
Consensus Conference (1985) Lowering blood cholesterol to prevent heart disease. JAMA 1985;235:2080-6.
-
(1985)
Consensus Conference
, vol.235
, pp. 2080-2086
-
-
|