-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors New York: McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill; 2001. pp. 2863-2913.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
79956278397
-
Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Hopkins PN, Toth PP, Ballantyne CM, Rader DJ. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5 (3 Suppl.):S9-S17.
-
(2011)
J Clin Lipidol
, vol.5
, Issue.3 SUPPL.
-
-
Hopkins, P.N.1
Toth, P.P.2
Ballantyne, C.M.3
Rader, D.J.4
-
3
-
-
0037541585
-
A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
-
Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
-
(2003)
Atherosclerosis
, vol.168
, pp. 1-14
-
-
Marks, D.1
Thorogood, M.2
Neil, H.A.W.3
Humphries, S.E.4
-
4
-
-
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
-
5
-
-
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
-
-
Versmissen, J.1
Oosterveer, D.M.2
Yazdanpanah, M.3
-
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
-
-
37249029830
-
Genetic heterogeneity of autosomal dominant hypercholesterolemia
-
Varret M, Abifadel M, Rabè s J-P, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008; 73:1-13.
-
(2008)
Clin Genet
, vol.73
, pp. 1-13
-
-
Varret, M.1
Abifadel, M.2
Rabès, J.-P.3
Boileau, C.4
-
8
-
-
53149146015
-
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
-
Humphries SE, Norbury G, Leigh S, et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19:362-368.
-
(2008)
Curr Opin Lipidol
, vol.19
, pp. 362-368
-
-
Humphries, S.E.1
Norbury, G.2
Leigh, S.3
-
9
-
-
84855501197
-
Familial hypercholesterolaemia: A model of care for Australasia
-
Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011; 12:221-263.
-
(2011)
Atheroscler Suppl
, vol.12
, pp. 221-263
-
-
Watts, G.F.1
Sullivan, D.R.2
Poplawski, N.3
-
10
-
-
79959347897
-
Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies
-
Nherera L, Marks D, Minhas R, et al. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011; 97:1175-1181.
-
(2011)
Heart
, vol.97
, pp. 1175-1181
-
-
Nherera, L.1
Marks, D.2
Minhas, R.3
-
11
-
-
77049105368
-
Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: A large cross-sectional study in the Netherlands
-
Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis 2010; 209:189-194.
-
(2010)
Atherosclerosis
, vol.209
, pp. 189-194
-
-
Pijlman, A.H.1
Huijgen, R.2
Verhagen, S.N.3
-
12
-
-
77950174523
-
Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal
-
Huijgen R, Kindt I, Verhoeven SB, et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS One 2010; 5:e9220.
-
(2010)
PLoS One
, vol.5
-
-
Huijgen, R.1
Kindt, I.2
Verhoeven, S.B.3
-
13
-
-
77954956771
-
Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia
-
Datta BN, McDowell IFW, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol 2010; 21:366-371.
-
(2010)
Curr Opin Lipidol
, vol.21
, pp. 366-371
-
-
Datta, B.N.1
McDowell, I.F.W.2
Rees, A.3
-
14
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Williams RR, Hunt SC, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993; 72:171-176.
-
(1993)
Am J Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, C.3
-
18
-
-
77957874149
-
Defining the challenges of familial hypercholesterolemia: Introduction
-
Hopkins PN. Defining the challenges of familial hypercholesterolemia: introduction. J Clin Lipidol 2010; 4:342-345.
-
(2010)
J Clin Lipidol
, vol.4
, pp. 342-345
-
-
Hopkins, P.N.1
-
19
-
-
77957880779
-
Defining the challenges of FH screening for familial hypercholesterolemia
-
Defesche JC. Defining the challenges of FH screening for familial hypercholesterolemia. J Clin Lipidol 2010; 4:338-341.
-
(2010)
J Clin Lipidol
, vol.4
, pp. 338-341
-
-
Defesche, J.C.1
-
20
-
-
79961046340
-
The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries
-
Aarden E, Van Hoyweghen I, Horstman K. The paradox of public health genomics: definition and diagnosis of familial hypercholesterolaemia in three European countries. Scand J Public Health 2011; 39:634-639.
-
(2011)
Scand J Public Health
, vol.39
, pp. 634-639
-
-
Aarden, E.1
Van Hoyweghen, I.2
Horstman, K.3
-
21
-
-
79957977001
-
Array-based resequencing for mutations causing familial hypercholesterolemia
-
Chiou K-R, Charng M-J, Chang H-M. Array-based resequencing for mutations causing familial hypercholesterolemia. Atherosclerosis 2011; 216:383-389.
-
(2011)
Atherosclerosis
, vol.216
, pp. 383-389
-
-
Chiou, K.-R.1
Charng, M.-J.2
Chang, H.-M.3
-
22
-
-
79955536646
-
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
-
Dusková L, Kopecková L, Jansová E, et al. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Atherosclerosis 2011; 216:139-145.
-
(2011)
Atherosclerosis
, vol.216
, pp. 139-145
-
-
Dusková, L.1
Kopecková, L.2
Jansová, E.3
-
23
-
-
84857035544
-
Molecular characterization of familial hypercholesterolemia in Spain
-
Palacios L, Grandoso L, Cuevas N, et al. Molecular characterization of familial hypercholesterolemia in Spain. Atherosclerosis 2012; 221:137-142.
-
(2012)
Atherosclerosis
, vol.221
, pp. 137-142
-
-
Palacios, L.1
Grandoso, L.2
Cuevas, N.3
-
24
-
-
79953066017
-
Molecular basis of autosomal dominant hypercholesterolemia: Assessment in a large cohort of hypercholesterolemic children
-
van der Graaf A, Avis HJ, Kusters DM, et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 2011; 123:1167-1173.
-
(2011)
Circulation
, vol.123
, pp. 1167-1173
-
-
Van Der Graaf, A.1
Avis, H.J.2
Kusters, D.M.3
-
25
-
-
79960250474
-
ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)
-
Catapano AL, Reiner Z, De Backer G, et al. ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Atherosclerosis 2011; 217 (Suppl. 1):S1-S44.
-
(2011)
Atherosclerosis
, vol.217
, Issue.SUPPL. 1
-
-
Catapano, A.L.1
Reiner, Z.2
De Backer, G.3
-
26
-
-
79956267846
-
Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Goldberg AC, Hopkins PN, Toth PP, et al. 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; 5:133-140.
-
(2011)
J Clin Lipidol
, vol.5
, pp. 133-140
-
-
Goldberg, A.C.1
Hopkins, P.N.2
Toth, P.P.3
-
27
-
-
79956288028
-
Treatment of adults with familial hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Robinson JG, Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S18-S29.
-
(2011)
J Clin Lipidol
, vol.5
-
-
Robinson, J.G.1
Goldberg, A.C.2
-
28
-
-
79956263939
-
Pediatric aspects of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Daniels SR, Gidding SS, de Ferranti SD. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S30-S37.
-
(2011)
J Clin Lipidol
, vol.5
-
-
Daniels, S.R.1
Gidding, S.S.2
De Ferranti, S.D.3
-
29
-
-
79956277910
-
Management of familial hypercholesterolemias in adult patients: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Ito MK, McGowan MP, Moriarty PM. Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S38-S45.
-
(2011)
J Clin Lipidol
, vol.5
-
-
Ito, M.K.1
McGowan, M.P.2
Moriarty, P.M.3
-
30
-
-
79956265502
-
Future issues, public policy, and public awareness of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
Goldberg AC, Robinson JG, Cromwell WC, et al. Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5 (3 Suppl.):S46-S51.
-
(2011)
J Clin Lipidol
, vol.5
, Issue.3 SUPPL.
-
-
Goldberg, A.C.1
Robinson, J.G.2
Cromwell, W.C.3
-
31
-
-
48249093075
-
Lipid screening and cardiovascular health in childhood
-
and the Committee on Nutrition
-
Daniels SR, Greer FR; and the Committee on Nutrition. Lipid screening and cardiovascular health in childhood. Pediatrics 2008; 122:198-208.
-
(2008)
Pediatrics
, vol.122
, pp. 198-208
-
-
Daniels, S.R.1
Greer, F.R.2
-
32
-
-
84055213533
-
Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report
-
Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute
-
Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 2011; 128(Suppl. 5):S213-S256.
-
(2011)
Pediatrics
, vol.128
, Issue.SUPPL. 5
-
-
-
33
-
-
84855987839
-
Universal screening and drug treatment of dyslipidemia in children and adolescents
-
Psaty BM, Rivara FP. Universal screening and drug treatment of dyslipidemia in children and adolescents. JAMA 2012; 307:257-258.
-
(2012)
JAMA
, vol.307
, pp. 257-258
-
-
Psaty, B.M.1
Rivara, F.P.2
-
34
-
-
84856015484
-
Is universal pediatric lipid screening justified?
-
Gillman MW, Daniels SR. Is universal pediatric lipid screening justified? JAMA 2012; 307:259-260.
-
(2012)
JAMA
, vol.307
, pp. 259-260
-
-
Gillman, M.W.1
Daniels, S.R.2
-
35
-
-
80053292217
-
Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a
-
patent organization
-
Descamps OS, Tenoutasse S, Stephenne X, et al. Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patent organization. Atherosclerosis 2011; 218:272-280.
-
(2011)
Atherosclerosis
, vol.218
, pp. 272-280
-
-
Descamps, O.S.1
Tenoutasse, S.2
Stephenne, X.3
-
36
-
-
84857234423
-
Paediatric screening for hypercholesterolaemia in Europe
-
Kusters DM, De Beaufort C, Widhalm K, et al. Paediatric screening for hypercholesterolaemia in Europe. Arch Dis Child 2012; 97:272-276.
-
(2012)
Arch Dis Child
, vol.97
, pp. 272-276
-
-
Kusters, D.M.1
De Beaufort, C.2
Widhalm, K.3
-
37
-
-
80054744511
-
Child-parent screening for familial hypercholesterolemia
-
Wald DS, Kasturiratne A, Godoy A, et al. Child-parent screening for familial hypercholesterolemia. J Pediatr 2011; 159:865-867.
-
(2011)
J Pediatr
, vol.159
, pp. 865-867
-
-
Wald, D.S.1
Kasturiratne, A.2
Godoy, A.3
-
38
-
-
84355166400
-
The evaluation of cascade testing for familial hypercholesterolemia
-
Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet Part A 2012; 158A:78-84.
-
(2012)
Am J Med Genet Part A
, vol.158 A
, pp. 78-84
-
-
Morris, J.K.1
Wald, D.S.2
Wald, N.J.3
-
39
-
-
34548186503
-
Statin treatment in children with familial hypercholesterolemia: The younger, the better
-
Rodenburg J, Vissers MN, Wiegman A, et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation 2007; 116:664-668.
-
(2007)
Circulation
, vol.116
, pp. 664-668
-
-
Rodenburg, J.1
Vissers, M.N.2
Wiegman, A.3
-
40
-
-
79951968300
-
Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
-
doi:10.1371/journal.pone.0016721
-
Leren TP, Berge KE. Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated. PLoS ONE 2011; 6:e16721; doi:10.1371/journal.pone.0016721.
-
(2011)
PLoS ONE
, vol.6
-
-
Leren, T.P.1
Berge, K.E.2
-
41
-
-
0037126526
-
Third report of the national cholesterol education program (NCEP) Expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report
-
National Cholesterol Education Program (NCEP)
-
National Cholesterol Education Program (NCEP). Third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation 2002; 106:3143-3421.
-
(2002)
Circulation
, vol.106
, pp. 3143-3421
-
-
-
42
-
-
79953045746
-
Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias
-
Kwiterovich PO. Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias. Circulation 2011; 123:1153-1155.
-
(2011)
Circulation
, vol.123
, pp. 1153-1155
-
-
Kwiterovich, P.O.1
|