-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Baudet AL, Sly WS, Valle D, editors. New York, NY: McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Baudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York, NY: McGraw-Hill; 2001. pp. 2863-2913.
-
(2001)
The Metabolic Basis of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
3
-
-
84906716305
-
Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
-
Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35:2146-2157.
-
(2014)
Eur Heart J
, vol.35
, pp. 2146-2157
-
-
Cuchel, M.1
Bruckert, E.2
Ginsberg, H.N.3
-
4
-
-
84924366648
-
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: Prevalence, genotype-phenotype relationship, and clinical outcome
-
Sjouke B, Kusters DM, Kindt I, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36:560-565.
-
(2015)
Eur Heart J
, vol.36
, pp. 560-565
-
-
Sjouke, B.1
Kusters, D.M.2
Kindt, I.3
-
5
-
-
10744233618
-
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
-
Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004; 173:55-68.
-
(2004)
Atherosclerosis
, vol.173
, pp. 55-68
-
-
Civeira, F.1
-
6
-
-
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
-
Nordestgaard BG, Chapman MJ, Humphries SE, et al. 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; 34:3478a-90a.
-
(2013)
Eur Heart J
, vol.34
, pp. 3478a-3490a
-
-
Nordestgaard, B.G.1
Chapman, M.J.2
Humphries, S.E.3
-
7
-
-
84923082408
-
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
-
Do R, Stitziel NO, Won HH, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2015; 518:102-106.
-
(2015)
Nature
, vol.518
, pp. 102-106
-
-
Do, R.1
Stitziel, N.O.2
Won, H.H.3
-
8
-
-
51249096285
-
Familial hypercholesterolaemia: Summary of NICE guidance
-
Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008; 337:a1095.
-
(2008)
BMJ
, vol.337
, pp. a1095
-
-
Wierzbicki, A.S.1
Humphries, S.E.2
Minhas, R.3
-
9
-
-
84978602750
-
Nasjonal kompetansetjeneste for familiær hyperkolesterolemi
-
[Accessed 20 December 2015]
-
Johansen D, Bogsrud MP, Holven KB. Nasjonal kompetansetjeneste for familiær hyperkolesterolemi. NKTforFH virksomhetsplan 2015; www. oslouniversitetssykehus. no/omoss-/avdelinger-/nasjonal-kompetansetjenestefor-barn-og-voksne-med-famili%c3%a6r-hyperkolesterolemi-og-andre-arveli ge-dyslipidemier-/Documents/NKTforFH%20virksomhetsplan. pdf [Accessed 20 December 2015]
-
(2015)
NKTforFH Virksomhetsplan
-
-
Johansen, D.1
Bogsrud, M.P.2
Holven, K.B.3
-
10
-
-
78449281377
-
Efficacy and safety of more intensive lowering of LDL cholesterol: A meta-analysis of data from 170, 000 participants in 26 randomised trials
-
Baigent C, Blackwell L, Emberson J, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: A meta-analysis of data from 170, 000 participants in 26 randomised trials. Lancet 2010; 376:1670-1681.
-
(2010)
Lancet
, vol.376
, pp. 1670-1681
-
-
Baigent, C.1
Blackwell, L.2
Emberson, J.3
-
11
-
-
0022571020
-
Causes of death in patients with familial hypercholesterolemia
-
Mabuchi H, Miyamoto S, Ueda K, et al. Causes of death in patients with familial hypercholesterolemia. Atherosclerosis 1986; 61:1-6.
-
(1986)
Atherosclerosis
, vol.61
, pp. 1-6
-
-
Mabuchi, H.1
Miyamoto, S.2
Ueda, K.3
-
12
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Group SSCobotSBR
-
Group SSCobotSBR. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991; 303:893-896.
-
(1991)
BMJ
, vol.303
, pp. 893-896
-
-
-
13
-
-
0032890205
-
Mortality in treated heterozygous familial hypercholesterolaemia: Implications for clinical management
-
Group SSCobotSBR
-
Group SSCobotSBR. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999; 142:105-112.
-
(1999)
Atherosclerosis
, vol.142
, pp. 105-112
-
-
-
14
-
-
0034662322
-
Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study
-
Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000; 321:148.
-
(2000)
BMJ
, vol.321
, pp. 148
-
-
Neil, H.A.1
Hammond, T.2
Huxley, R.3
-
15
-
-
0034060201
-
Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia
-
Sijbrands EJ, Westendorp RG, Paola Lombardi M, et al. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. Atherosclerosis 2000; 149:421-425.
-
(2000)
Atherosclerosis
, vol.149
, pp. 421-425
-
-
Sijbrands, E.J.1
Westendorp, R.G.2
Paola Lombardi, M.3
-
16
-
-
0035962344
-
Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study
-
Sijbrands EJ, Westendorp RG, Defesche JC, et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ 2001; 322:1019-1023.
-
(2001)
BMJ
, vol.322
, pp. 1019-1023
-
-
Sijbrands, E.J.1
Westendorp, R.G.2
Defesche, J.C.3
-
17
-
-
0037229190
-
Risk of fatal stroke in patients with treated familial hypercholesterolemia: A prospective registry study
-
Huxley RR, Hawkins MH, Humphries SE, et al. Risk of fatal stroke in patients with treated familial hypercholesterolemia: A prospective registry study. Stroke 2003; 34:22-25.
-
(2003)
Stroke
, vol.34
, pp. 22-25
-
-
Huxley, R.R.1
Hawkins, M.H.2
Humphries, S.E.3
-
18
-
-
10744221851
-
Comparison of the risk of fatal coronary heart disease in treated xanthomatous and nonxanthomatous heterozygous familial hypercholesterolaemia: A prospective registry study
-
Neil HA, Huxley RR, Hawkins MM, et al. Comparison of the risk of fatal coronary heart disease in treated xanthomatous and nonxanthomatous heterozygous familial hypercholesterolaemia: A prospective registry study. Atherosclerosis 2003; 170:73-78.
-
(2003)
Atherosclerosis
, vol.170
, pp. 73-78
-
-
Neil, H.A.1
Huxley, R.R.2
Hawkins, M.M.3
-
19
-
-
0037322439
-
Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia
-
de Sauvage Nolting PR, Defesche JC, et al. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med 2003; 253:161-168.
-
(2003)
J Intern Med
, vol.253
, pp. 161-168
-
-
De Sauvage Nolting, P.R.1
Defesche, J.C.2
-
20
-
-
9644287995
-
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
-
Jansen AC, van Aalst-Cohen ES, Tanck MW, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004; 256:482-490.
-
(2004)
J Intern Med
, vol.256
, pp. 482-490
-
-
Jansen, A.C.1
Van Aalst-Cohen, E.S.2
Tanck, M.W.3
-
21
-
-
0842309234
-
Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia
-
Mohrschladt MF, Westendorp RG, Gevers Leuven JA, et al. Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia. Atherosclerosis 2004; 172:329-335.
-
(2004)
Atherosclerosis
, vol.172
, pp. 329-335
-
-
Mohrschladt, M.F.1
Westendorp, R.G.2
Gevers Leuven, J.A.3
-
22
-
-
14944364066
-
Noncoronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: A prospective registry study
-
Neil HA, Hawkins MM, Durrington PN, et al. Noncoronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: A prospective registry study. Atherosclerosis 2005; 179:293-297.
-
(2005)
Atherosclerosis
, vol.179
, pp. 293-297
-
-
Neil, H.A.1
Hawkins, M.M.2
Durrington, P.N.3
-
23
-
-
55749088063
-
Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: A prospective registry study
-
Neil A, Cooper J, Betteridge J, et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: A prospective registry study. Eur Heart J 2008; 29:2625-2633.
-
(2008)
Eur Heart J
, vol.29
, pp. 2625-2633
-
-
Neil, A.1
Cooper, J.2
Betteridge, J.3
-
24
-
-
79959332777
-
Efficacy of statins in familial hypercholesterolaemia: A long term cohort study
-
Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: A long term cohort study. BMJ 2008; 337:a2423.
-
(2008)
BMJ
, vol.337
, pp. a2423
-
-
Versmissen, J.1
Oosterveer, D.M.2
Yazdanpanah, M.3
-
25
-
-
59149086404
-
Long-term probucol treatment prevents secondary cardiovascular events: A cohort study of patients with heterozygous familial hypercholesterolemia in Japan
-
Yamashita S, Hbujo H, Arai H, et al. Long-term probucol treatment prevents secondary cardiovascular events: A cohort study of patients with heterozygous familial hypercholesterolemia in Japan. J Atheroscler Thromb 2008; 15:292-303.
-
(2008)
J Atheroscler Thromb
, vol.15
, pp. 292-303
-
-
Yamashita, S.1
Hbujo, H.2
Arai, H.3
-
26
-
-
52049109169
-
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
-
Alonso R, Mata N, Castillo S, et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008; 200:315-321.
-
(2008)
Atherosclerosis
, vol.200
, pp. 315-321
-
-
Alonso, R.1
Mata, N.2
Castillo, S.3
-
27
-
-
82955189685
-
Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality
-
Versmissen J, Botden IP, Huijgen R, et al. Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality. Atherosclerosis 2011; 219:690-693.
-
(2011)
Atherosclerosis
, vol.219
, pp. 690-693
-
-
Versmissen, J.1
Botden, I.P.2
Huijgen, R.3
-
28
-
-
80053984968
-
Pregnancy outcomes in familial hypercholesterolemia: A registry-based study
-
Toleikyte I, Retterstol K, Leren TP, et al. Pregnancy outcomes in familial hypercholesterolemia: A registry-based study. Circulation 2011; 124:1606-1614.
-
(2011)
Circulation
, vol.124
, pp. 1606-1614
-
-
Toleikyte, I.1
Retterstol, K.2
Leren, T.P.3
-
29
-
-
79958166529
-
Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART)
-
Mata N, Alonso R, Badimon L, Padro T, et al. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis 2011; 10:94.
-
(2011)
Lipids Health Dis
, vol.10
, pp. 94
-
-
Mata, N.1
Alonso, R.2
Badimon, L.3
Padro, T.4
-
30
-
-
81355160365
-
Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipidlowering therapy
-
Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipidlowering 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
-
31
-
-
84893873856
-
Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14, 000 mutation carriers
-
Besseling J, Kindt I, Hof M, et al. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14, 000 mutation carriers. Atherosclerosis 2014; 233:219-223.
-
(2014)
Atherosclerosis
, vol.233
, pp. 219-223
-
-
Besseling, J.1
Kindt, I.2
Hof, M.3
-
32
-
-
84931028781
-
Mortality among patients with familial hypercholesterolemia: A registry-based study in Norway
-
Mundal L, Sarancic M, Ose L, et al. Mortality among patients with familial hypercholesterolemia: A registry-based study in Norway. J Am Heart Assoc 2014; 3:e001236.
-
(2014)
J Am Heart Assoc
, vol.3
, pp. e001236
-
-
Mundal, L.1
Sarancic, M.2
Ose, L.3
-
33
-
-
84966642427
-
Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death
-
Krogh HW, Mundal L, Holven KB, et al. Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death. Eur Heart J 2015. doi: 10. 1093/eurheartj/ehv602.
-
(2015)
Eur Heart J
-
-
Krogh, H.W.1
Mundal, L.2
Holven, K.B.3
-
34
-
-
84878995402
-
Role of international registries in enhancing the care of familial hypercholesterolaemia
-
Hammond E, Watts GF, Rubinstein Y, et al. Role of international registries in enhancing the care of familial hypercholesterolaemia. Int J Evid Based Healthc 2013; 11:134-139.
-
(2013)
Int J Evid Based Healthc
, vol.11
, pp. 134-139
-
-
Hammond, E.1
Watts, G.F.2
Rubinstein, Y.3
|