-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. U: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Basis of Inherited Disease. 8 izd., New York, McGraw-Hill; 2001. str. 2863-913.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease. 8 Izd.
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
0022259920
-
The LDL receptor gene: A mosaic of exons shared with different proteins
-
Sudhof TC, Goldstein JL, Brown MS, Russel DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985;228:815-22.
-
(1985)
Science
, vol.228
, pp. 815-822
-
-
Sudhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russel, D.W.4
-
3
-
-
0035197537
-
Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: Update, new features and mutation analysis
-
Heath KE, Gahan M, Whittall RA, Humphries SE. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. Atherosclerosis 2001;154:243-6.
-
(2001)
Atherosclerosis
, vol.154
, pp. 243-246
-
-
Heath, K.E.1
Gahan, M.2
Whittall, R.A.3
Humphries, S.E.4
-
4
-
-
8844228187
-
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia
-
Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atherosclerosis 2004;(Suppl 5):1-5.
-
(2004)
Atherosclerosis
, Issue.SUPPL. 5
, pp. 1-5
-
-
Muller, P.Y.1
Miserez, A.R.2
-
5
-
-
20244364794
-
A third major locus for autosomal dominant hypercholesterolaemia maps to 1p34.1-p32
-
Varret M, Rabes JP, Saint JB, Cenaro A, Marinoni JC, Civeira F. A third major locus for autosomal dominant hypercholesterolaemia maps to 1p34.1-p32. Am J Med Genet 1999;64:1378-87.
-
(1999)
Am J Med Genet
, vol.64
, pp. 1378-1387
-
-
Varret, M.1
Rabes, J.P.2
Saint, J.B.3
Cenaro, A.4
Marinoni, J.C.5
Civeira, F.6
-
6
-
-
0034127788
-
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred
-
Hunt SC, Hopkins PN, Bulka K, McDermott MT, Thorne TL, Wardell BB. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol 2000;20:1089-93.
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
, pp. 1089-1093
-
-
Hunt, S.C.1
Hopkins, P.N.2
Bulka, K.3
McDermott, M.T.4
Thorne, T.L.5
Wardell, B.B.6
-
7
-
-
0037045847
-
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis
-
Area M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 2002;359:841-7.
-
(2002)
Lancet
, vol.359
, pp. 841-847
-
-
Area, M.1
Zuliani, G.2
Wilund, K.3
Campagna, F.4
Fellin, R.5
Bertolini, S.6
-
8
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Williams RR, Hunt SC, Schumacher C, Hegele RA, Leppert MF, Ludwig EH. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.
-
(1993)
Am J Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, C.3
Hegele, R.A.4
Leppert, M.F.5
Ludwig, E.H.6
-
9
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6.
-
(1991)
BMJ
, vol.303
, pp. 893-896
-
-
-
11
-
-
0035058910
-
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH)
-
Heath KE, Humphries SE, Middelton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH). Eur J Hum Gen 2001;9:244-52.
-
(2001)
Eur J Hum Gen
, vol.9
, pp. 244-252
-
-
Heath, K.E.1
Humphries, S.E.2
Middelton-Price, H.3
Boxer, M.4
-
12
-
-
0032993468
-
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia
-
Heath KE, Gudnason V, Humphries SE, Seed M. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 1999;143:41-54.
-
(1999)
Atherosclerosis
, vol.143
, pp. 41-54
-
-
Heath, K.E.1
Gudnason, V.2
Humphries, S.E.3
Seed, M.4
-
13
-
-
0034951134
-
Results from a family and DNA based active identification programme for familial hypercholesterolaemia
-
ten Asbroek AHA, Marang-van de Mheen PJ, Defesche JC, Kastelein JJP, Gunning-Schepers LJ. Results from a family and DNA based active identification programme for familial hypercholesterolaemia. J Epidemiol Community Health 2001;55:500-2.
-
(2001)
J Epidemiol Community Health
, vol.55
, pp. 500-502
-
-
Ten Asbroek, A.H.A.1
De Marang-Van Mheen, P.J.2
Defesche, J.C.3
Kastelein, J.J.P.4
Gunning-Schepers, L.J.5
-
14
-
-
0036607353
-
A cost-effectiveness analysis of different approaches to screening for familial hypercholesterolaemia
-
Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HAW. A cost-effectiveness analysis of different approaches to screening for familial hypercholesterolaemia. BMJ 2002;324:1303-6.
-
(2002)
BMJ
, vol.324
, pp. 1303-1306
-
-
Marks, D.1
Wonderling, D.2
Thorogood, M.3
Lambert, H.4
Humphries, S.E.5
Haw, N.6
-
15
-
-
0035915685
-
Review of first 5 years of screening for familial hypecholesterolaemia in the Netherlands
-
Umans-Eckenhausen MAW, Defesche JC, Sijbrands EJG, Scheerder RLJM, Kastelein JJP. Review of first 5 years of screening for familial hypecholesterolaemia in The Netherlands. Lancet 2001;357:165-8.
-
(2001)
Lancet
, vol.357
, pp. 165-168
-
-
Umans-Eckenhausen, M.A.W.1
Defesche, J.C.2
Sijbrands, E.J.G.3
Scheerder, R.L.J.M.4
Kastelein, J.J.P.5
-
17
-
-
0027372798
-
Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents
-
Kwiterovich PO Jr. Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents. Am J Cardiol 1993;72:30D-70D.
-
(1993)
Am J Cardiol
, vol.72
-
-
Kwiterovich Jr., P.O.1
-
18
-
-
0028800204
-
The detection and management of dyslipidaemia in children and adolescents
-
Ose L, Tonstad S. The detection and management of dyslipidaemia in children and adolescents. Acta Paediatr 1995;84:1213-5.
-
(1995)
Acta Paediatr
, vol.84
, pp. 1213-1215
-
-
Ose, L.1
Tonstad, S.2
-
19
-
-
27544511256
-
Trogodišnji dječak - Homozigot za autosomno dominantnu familijarnu hiperkolestrolemiju
-
Dumić M , Špehar Uroić A, Francetić I, Puretić Z, Matišić D, Kes P, Reiner Ž. Trogodišnji dječak - homozigot za autosomno dominantnu familijarnu hiperkolestrolemiju. Lij Vjesn 2005;(Supl 3):79.
-
(2005)
Lij Vjesn
, Issue.SUPPL. 3
, pp. 79
-
-
Dumić, M.1
Špehar Uroić, A.2
Francetić, I.3
Puretić, Z.4
Matišić, D.5
Kes, P.6
Reiner, Ž.7
-
20
-
-
0031734356
-
Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: Effects of therapy
-
Hennermann JB, Herwig J, Marz W, Asskali F, Bohles HJ. Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy. Eur J Pediatr 1998;157:912-8.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 912-918
-
-
Hennermann, J.B.1
Herwig, J.2
Marz, W.3
Asskali, F.4
Bohles, H.J.5
-
21
-
-
0032890205
-
Mortality in treated heterozigous familial hypercholesterolaemia: Implications for clinical management
-
Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozigous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
-
(1999)
Atherosclerosis
, vol.142
, pp. 105-112
-
-
-
22
-
-
0033550478
-
Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: A randomized controlled trial
-
Stein EA, Illingworth DR, Kwiterovich PO, Jr, Liacouras CA, Siimes MA, Jacobson MS. Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial. JAMA 1999;281:137-44.
-
(1999)
JAMA
, vol.281
, pp. 137-144
-
-
Stein, E.A.1
Illingworth, D.R.2
Kwiterovich Jr., P.O.3
Liacouras, C.A.4
Siimes, M.A.5
Jacobson, M.S.6
-
23
-
-
0035941786
-
Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial
-
Smilde TJ, van Wissen S, Wollerheim H, Trip MD, Kastelein JJP, Stalenhoef AFH. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001;357:577-81.
-
(2001)
Lancet
, vol.357
, pp. 577-581
-
-
Smilde, T.J.1
Van Wissen, S.2
Wollerheim, H.3
Trip, M.D.4
Kastelein, J.J.P.5
Stalenhoef, A.F.H.6
-
24
-
-
1842431592
-
Statini u primarnoj i sekundarnoj prevenciji koronarne bolesti
-
Reiner Ž. Statini u primarnoj i sekundarnoj prevenciji koronarne bolesti, Medicus 2003;12:85-90.
-
(2003)
Medicus
, vol.12
, pp. 85-90
-
-
Reiner, Ž.1
-
25
-
-
0037188567
-
Efficacy and safety of Ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolaemia
-
Gagne C, Gaudet D, Bruckert E. Efficacy and safety of Ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolaemia. Circulation 2002;105:2469-75.
-
(2002)
Circulation
, vol.105
, pp. 2469-2475
-
-
Gagne, C.1
Gaudet, D.2
Bruckert, E.3
-
26
-
-
0029103672
-
Familial hypercholesterolaemia regression study: A randomised trial of low-density-lipoprotein apheresis
-
Thompson GR, Mahler VM, Matthews S, Kitano Y, Neuwirth C, Shortt MB. Familial hypercholesterolaemia regression study: a randomised trial of low-density-lipoprotein apheresis. Lancet 1995;345:811-6.
-
(1995)
Lancet
, vol.345
, pp. 811-816
-
-
Thompson, G.R.1
Mahler, V.M.2
Matthews, S.3
Kitano, Y.4
Neuwirth, C.5
Shortt, M.B.6
-
27
-
-
0031877776
-
Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolaemia
-
Park JW, Merz M, Braun P. Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolaemia. Atherosclerosis 1998;139:401-9.
-
(1998)
Atherosclerosis
, vol.139
, pp. 401-409
-
-
Park, J.W.1
Merz, M.2
Braun, P.3
-
28
-
-
0033358541
-
Extracorporeal treatment for refractory hyperlipidemia
-
Kes P, Reiner Z. Extracorporeal treatment for refractory hyperlipidemia. Acta Med Croatica 1999;53:83-92.
-
(1999)
Acta Med Croatica
, vol.53
, pp. 83-92
-
-
Kes, P.1
Reiner, Z.2
-
29
-
-
0347999669
-
Die allogene Lebertransplantation - Eine Form der "Gentherapie" bei metabolishen Erkrankungen. Muenchener Ergebnisse und Uebersicht
-
Stangl MJ, Beuers U, Schauer R, Lang T, Gerbes A, Briegel J. Die allogene Lebertransplantation - eine Form der "Gentherapie" bei metabolishen Erkrankungen. Muenchener Ergebnisse und Uebersicht. Chirurg 2000;71:808-19.
-
(2000)
Chirurg
, vol.71
, pp. 808-819
-
-
Stangl, M.J.1
Beuers, U.2
Schauer, R.3
Lang, T.4
Gerbes, A.5
Briegel, J.6
-
30
-
-
0028292602
-
Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia
-
Grossman M, Raper SE, Kozarsky K, Stein EA, Engelhardt JF, Muller DW. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. Nat Genet 1994;6:335-41.
-
(1994)
Nat Genet
, vol.6
, pp. 335-341
-
-
Grossman, M.1
Raper, S.E.2
Kozarsky, K.3
Stein, E.A.4
Engelhardt, J.F.5
Muller, D.W.6
-
31
-
-
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, III. A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia. Nat Med 1995;1:1148-54.
-
(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
-
32
-
-
0026779207
-
Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolaemia and premature coronary artery disease
-
Tybjaerg-Hansen A, Humphries S. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolaemia and premature coronary artery disease. Atherosclerosis 1992;96:91-107.
-
(1992)
Atherosclerosis
, vol.96
, pp. 91-107
-
-
Tybjaerg-Hansen, A.1
Humphries, S.2
-
33
-
-
16944364700
-
Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries
-
Hansen PS, Defesche JC, Kastelein JJP. Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries. Arterioscler Thromb Vasc Biol 1997;17:741-7.
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, pp. 741-747
-
-
Hansen, P.S.1
Defesche, J.C.2
Kastelein, J.J.P.3
-
34
-
-
0029094386
-
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Miserez AR, Keller W. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995;15:1719-29.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1719-1729
-
-
Miserez, A.R.1
Keller, W.2
-
35
-
-
1642272311
-
Promjena načina života - Ključni čimbenik u lijecenju hiperlipidemija
-
Reiner Ž. Promjena načina života - ključni čimbenik u lijecenju hiperlipidemija. Medicus 2000;9:49-58.
-
(2000)
Medicus
, vol.9
, pp. 49-58
-
-
Reiner, Ž.1
-
36
-
-
0037483699
-
Lipoprotein disorders and cardiovascular risk
-
Genest J. Lipoprotein disorders and cardiovascular risk. J Inherit Metab Dis 2003;26:267-87.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 267-287
-
-
Genest, J.1
-
37
-
-
27544435071
-
The effects of omega-3 fatty acids on serum lipoproteins and apoproteins in patients with hyperlipoproteinaemia
-
Reiner Ž, Salzer B. The effects of omega-3 fatty acids on serum lipoproteins and apoproteins in patients with hyperlipoproteinaemia. Period Biol 1993;95:484.
-
(1993)
Period Biol
, vol.95
, pp. 484
-
-
Reiner, Ž.1
Salzer, B.2
-
38
-
-
0033016308
-
Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atheroslerosis, response to therapy, and future clinical events: Lipoproteins and coronary atherosclerosis study
-
Sing K, Ballantyne CM, Ferlic L. Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atheroslerosis, response to therapy, and future clinical events: lipoproteins and coronary atherosclerosis study. Atherosclerosis 1999;144:435-42.
-
(1999)
Atherosclerosis
, vol.144
, pp. 435-442
-
-
Sing, K.1
Ballantyne, C.M.2
Ferlic, L.3
-
39
-
-
13444312279
-
Gene therapy for genetic lipoprotein lipase deficiency: From promise to practice
-
Nierman MC, Rip J, Twish J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA. Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice. Neth J Med 2005;63:14-9.
-
(2005)
Neth J Med
, vol.63
, pp. 14-19
-
-
Nierman, M.C.1
Rip, J.2
Twish, J.3
Meulenberg, J.J.4
Kastelein, J.J.5
Stroes, E.S.6
Kuivenhoven, J.A.7
-
40
-
-
0029808302
-
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
-
Benlian P, De Gennes JL, Foubert L. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 1996;375:848-54.
-
(1996)
N Engl J Med
, vol.375
, pp. 848-854
-
-
Benlian, P.1
De Gennes, J.L.2
Foubert, L.3
-
41
-
-
0027227341
-
n-fatty acids from fish oil: Effects on plasma lipoproteins and hypertriglyceridemic patients
-
Connor WE, DeFrancesco C, Connor SL. n-fatty acids from fish oil: Effects on plasma lipoproteins and hypertriglyceridemic patients. Ann NY Acad Sci 1993;683:16-34.
-
(1993)
Ann NY Acad Sci
, vol.683
, pp. 16-34
-
-
Connor, W.E.1
Defrancesco, C.2
Connor, S.L.3
-
42
-
-
27544494495
-
Omega-3 masne kiseline u prevenciji kardiovaskularnih bolesti
-
Tedeschi-Reiner E, Reiner Ž. Omega-3 masne kiseline u prevenciji kardiovaskularnih bolesti. Medix 2002;8:29-30.
-
(2002)
Medix
, vol.8
, pp. 29-30
-
-
Tedeschi-Reiner, E.1
Reiner, Ž.2
-
43
-
-
0025974363
-
The familial hyperchylomicronemia syndrome
-
Fojo SS, Brewer HB Jr. The familial hyperchylomicronemia syndrome. JAMA 1991;265:904-8.
-
(1991)
JAMA
, vol.265
, pp. 904-908
-
-
Fojo, S.S.1
Brewer Jr., H.B.2
-
44
-
-
0038443025
-
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
-
Wilson CJ, Oliva CP, Maggi F, Catapano AL, Calandra S. Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. Ann Neurol 2003;53:807-10.
-
(2003)
Ann Neurol
, vol.53
, pp. 807-810
-
-
Wilson, C.J.1
Oliva, C.P.2
Maggi, F.3
Catapano, A.L.4
Calandra, S.5
-
46
-
-
0031918837
-
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23
-
Pajukanta P, Nuotio I, Terwilliger JD, Porkka KV, Ylitalo K, Pihlajamaki J. Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet 1998;18:369-73.
-
(1998)
Nat Genet
, vol.18
, pp. 369-373
-
-
Pajukanta, P.1
Nuotio, I.2
Terwilliger, J.D.3
Porkka, K.V.4
Ylitalo, K.5
Pihlajamaki, J.6
-
47
-
-
0033362163
-
A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11
-
Aouizerat BE, Allayee H, Cantor RM, Davis RC. A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. Am J Human Genet 1999;65:397-412.
-
(1999)
Am J Human Genet
, vol.65
, pp. 397-412
-
-
Aouizerat, B.E.1
Allayee, H.2
Cantor, R.M.3
Davis, R.C.4
-
48
-
-
24144455710
-
Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides
-
e-objava prije tiskanja
-
Choon H, Xin Y, Hopkins PN, Cawthon RM, Hasstedt SJ, Hunt SC. Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. Hum Genet 2005;16 (e-objava prije tiskanja)
-
(2005)
Hum Genet
, vol.16
-
-
Choon, H.1
Xin, Y.2
Hopkins, P.N.3
Cawthon, R.M.4
Hasstedt, S.J.5
Hunt, S.C.6
-
49
-
-
11844286928
-
Apolipoprotein e and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects
-
Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. Sem Vasc Med 2004;4:249-57.
-
(2004)
Sem Vasc Med
, vol.4
, pp. 249-257
-
-
Smelt, A.H.1
De Beer, F.2
-
51
-
-
11444251445
-
Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer's disease
-
Poirier J. Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer's disease. Neurobiol Aging 2005;26:355-61.
-
(2005)
Neurobiol Aging
, vol.26
, pp. 355-361
-
-
Poirier, J.1
-
53
-
-
23044463691
-
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
-
Di Leo E, Lancellotti S, Penacchioni JY, Cefalu AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 2005;180:311-8.
-
(2005)
Atherosclerosis
, vol.180
, pp. 311-318
-
-
Di Leo, E.1
Lancellotti, S.2
Penacchioni, J.Y.3
Cefalu, A.B.4
Averna, M.5
Pisciotta, L.6
Bertolini, S.7
Calandra, S.8
Gabelli, C.9
Tarugi, P.10
-
54
-
-
13244266993
-
Lipid transfer proteins and atherosclerosis
-
Stein O, Stein Y. Lipid transfer proteins and atherosclerosis. Atherosclerosis 2005;178:217-30.
-
(2005)
Atherosclerosis
, vol.178
, pp. 217-230
-
-
Stein, O.1
Stein, Y.2
-
56
-
-
8644289370
-
Lecitin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 Year follow-up
-
Ayyobi AF, McGladdery SH, Chan SJ, Mancini GB, Hill JS, Frohlich J. Lecitin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up. Atherosclerosis 2004;177:361-6.
-
(2004)
Atherosclerosis
, vol.177
, pp. 361-366
-
-
Ayyobi, A.F.1
McGladdery, S.H.2
Chan, S.J.3
Mancini, G.B.4
Hill, J.S.5
Frohlich, J.6
-
57
-
-
0026506761
-
Two allelic mutations in the lecitin-cholesterol acyltransferase gene associated with the fish eye syndrome
-
Klein HG, Lohse P, Pritchard PH. Two allelic mutations in the lecitin-cholesterol acyltransferase gene associated with the fish eye syndrome. J Clin Invest 1992;89:499-506.
-
(1992)
J Clin Invest
, vol.89
, pp. 499-506
-
-
Klein, H.G.1
Lohse, P.2
Pritchard, P.H.3
-
58
-
-
2042472837
-
T13M mutation of lecitin-cholesterol.acyltransferase gene causes fish-eye disease
-
Miida T, Zhang B, Obayashi K, Seino U, Zhu U, Ito T, Nakamura Y, Okada M, Saku K. T13M mutation of lecitin-cholesterol.acyltransferase gene causes fish-eye disease. Clin Chim Acta 2004;343:201-8.
-
(2004)
Clin Chim Acta
, vol.343
, pp. 201-208
-
-
Miida, T.1
Zhang, B.2
Obayashi, K.3
Seino, U.4
Zhu, U.5
Ito, T.6
Nakamura, Y.7
Okada, M.8
Saku, K.9
-
59
-
-
24144480542
-
The molecular basis of lecitin: Cholestrol:acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
-
e-objava prije tiskanja
-
Calabresi L, Pisciotta L, Constantin A, Frigerio I, Eberini I. The molecular basis of lecitin: cholestrol:acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arteriocler Thromb Vasc Biol 2005;30 (e-objava prije tiskanja)
-
(2005)
Arteriocler Thromb Vasc Biol
, vol.30
-
-
Calabresi, L.1
Pisciotta, L.2
Constantin, A.3
Frigerio, I.4
Eberini, I.5
-
60
-
-
1842638698
-
Cerebrotendinous xanthomatosis: Clinical course, genotypes and metabolic backgrounds
-
Mogadashian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 2004;27:42-50.
-
(2004)
Clin Invest Med
, vol.27
, pp. 42-50
-
-
Mogadashian, M.H.1
-
61
-
-
8444244442
-
Normalisation of serum cholesterol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDLK apheresis
-
Dotti MT, Lutjohann D, von Bergman K, Federico A. Normalisation of serum cholesterol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDLK apheresis. Neurol Sci 2004;25:185-91.
-
(2004)
Neurol Sci
, vol.25
, pp. 185-191
-
-
Dotti, M.T.1
Lutjohann, D.2
Von Bergman, K.3
Federico, A.4
-
62
-
-
3242691713
-
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
-
Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C. Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract 2004;200:231-40.
-
(2004)
Pathol Res Pract
, vol.200
, pp. 231-240
-
-
Boldrini, R.1
Devito, R.2
Biselli, R.3
Filocamo, M.4
Bosman, C.5
-
63
-
-
12844278861
-
3 Beta-hydroxysterol Delta 7-reductase and the Smith-Lemli-Opitz syndrome
-
Correa-Cerro LS, Portir FD. 3 beta-hydroxysterol Delta 7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab 2005;84:112-26.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 112-126
-
-
Correa-Cerro, L.S.1
Portir, F.D.2
-
64
-
-
85047684249
-
Human cholesterol-7 alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
-
Pullinger CR, Eng C, Salen G, Shefer S, Batta AK. Human cholesterol-7 alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 2002;110:109-17.
-
(2002)
J Clin Invest
, vol.110
, pp. 109-117
-
-
Pullinger, C.R.1
Eng, C.2
Salen, G.3
Shefer, S.4
Batta, A.K.5
-
65
-
-
2342570322
-
Primary hypercholesterolemia: Genetic causes and treatment of five monogenic disorders
-
Pullinger CR, Kane JP, Malloy MJ. Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders. Expert Rev Cardiovasc Ther 2003;1:107-19.
-
(2003)
Expert Rev Cardiovasc Ther
, vol.1
, pp. 107-119
-
-
Pullinger, C.R.1
Kane, J.P.2
Malloy, M.J.3
-
67
-
-
0041662842
-
The role of ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia
-
Hovingh GK, Van Wijland MJ, Brownlie A, Bisoendial RJ, Heyden MR, Kastelein JJ, Groen AK. The role of ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. J Lipid Res 2003;44:1251-5.
-
(2003)
J Lipid Res
, vol.44
, pp. 1251-1255
-
-
Hovingh, G.K.1
Van Wijland, M.J.2
Brownlie, A.3
Bisoendial, R.J.4
Heyden, M.R.5
Kastelein, J.J.6
Groen, A.K.7
-
68
-
-
10744228239
-
Familial HDL deficiency due to ABCA1 gene mutation with or without other genetic lipoprotein disorders
-
Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A. Familial HDL deficiency due to ABCA1 gene mutation with or without other genetic lipoprotein disorders. Atherosclerosis 2004;172:309-20.
-
(2004)
Atherosclerosis
, vol.172
, pp. 309-320
-
-
Pisciotta, L.1
Hamilton-Craig, I.2
Tarugi, P.3
Bellocchio, A.4
-
69
-
-
17144407981
-
Inherited disorders of HDL metabolism and atherosclerosis
-
Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ. Inherited disorders of HDL metabolism and atherosclerosis. Curr Opin Lipidol 2005;16:139-45.
-
(2005)
Curr Opin Lipidol
, vol.16
, pp. 139-145
-
-
Hovingh, G.K.1
De Groot, E.2
Van Der Steeg, W.3
Boekholdt, S.M.4
Hutten, B.A.5
Kuivenhoven, J.A.6
Kastelein, J.J.7
-
70
-
-
0027330899
-
Familial hypoalphalipoproteinemia in premature coronary artery disease
-
Genest J, Bard J.M., Fruchart JC. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arteroscler Thromb 1993;13:1728-37.
-
(1993)
Arteroscler Thromb
, vol.13
, pp. 1728-1737
-
-
Genest, J.1
Bard, J.M.2
Fruchart, J.C.3
-
71
-
-
0027137161
-
Very low high-density lipoproteins without coronary atherosclerosis
-
Rader DJ, Ikewaki K, Duverger N. Very low high-density lipoproteins without coronary atherosclerosis. Lancet 1993;342:1455-8.
-
(1993)
Lancet
, vol.342
, pp. 1455-1458
-
-
Rader, D.J.1
Ikewaki, K.2
Duverger, N.3
-
72
-
-
1542409274
-
Apolipoprotein composition of HDL in cholesteryl ester transfer protein deficiency
-
Asztalos BF, Horvath KV, Kajinami K, Nartsupha C, Cox CE, Batista M, Schaefer EJ, Inazu A, Mabudri H. Apolipoprotein composition of HDL in cholesteryl ester transfer protein deficiency. J Lipid Res 2004;45:448-55.
-
(2004)
J Lipid Res
, vol.45
, pp. 448-455
-
-
Asztalos, B.F.1
Horvath, K.V.2
Kajinami, K.3
Nartsupha, C.4
Cox, C.E.5
Batista, M.6
Schaefer, E.J.7
Inazu, A.8
Mabudri, H.9
-
73
-
-
4644265970
-
Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese
-
Nagano M, Yanoshita S, Hirano K, Takano M, Maruyama T. Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese. J Atheroscler Thromb 2004;11:110-21.
-
(2004)
J Atheroscler Thromb
, vol.11
, pp. 110-121
-
-
Nagano, M.1
Yanoshita, S.2
Hirano, K.3
Takano, M.4
Maruyama, T.5
-
74
-
-
10044251362
-
Phenotypic heterogeneity of sitosterolemia
-
Wang J, Joy T, Myamin D, Frohlich J, Hegele RA. Phenotypic heterogeneity of sitosterolemia. J Lipid Res 2004;49:2361-7.
-
(2004)
J Lipid Res
, vol.49
, pp. 2361-2367
-
-
Wang, J.1
Joy, T.2
Myamin, D.3
Frohlich, J.4
Hegele, R.A.5
|