-
1
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group
-
-1991 Risk of fatal coronary heart disease in familial hypercholesterolemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303:893-896
-
(1991)
BMJ
, vol.303
, pp. 893-896
-
-
-
2
-
-
38849198546
-
Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum
-
Rahalkar AR, Hegele RA 2008 Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab 93:282-294
-
(2008)
Mol Genet Metab
, vol.93
, pp. 282-294
-
-
Rahalkar, A.R.1
Hegele, R.A.2
-
3
-
-
0027322479
-
Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia
-
Venkatesan S, Cullen P, Pacy P, Halliday D, Scott J 1993 Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler Thromb 13:1110-1118
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 1110-1118
-
-
Venkatesan, S.1
Cullen, P.2
Pacy, P.3
Halliday, D.4
Scott, J.5
-
4
-
-
0036065554
-
Long-term prevention of premature coronary atherosclerosis in homozygous familial hypercho-lesterolemia
-
Jaeger BR, Tsobanelis T, Bengel F, Schwaiger M, Seidel D 2002 Long-term prevention of premature coronary atherosclerosis in homozygous familial hypercho-lesterolemia. J Pediatr 141:125-128
-
(2002)
J Pediatr
, vol.141
, pp. 125-128
-
-
Jaeger, B.R.1
Tsobanelis, T.2
Bengel, F.3
Schwaiger, M.4
Seidel, D.5
-
5
-
-
33845875445
-
Cardiovascular risk reduction in high-risk pediatric patients: A scientific statement from the American Heart Association Expert Panel on Population and Prevention Science
-
American Heart Association Expert Panel on Population and Prevention Science; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Nutrition Physical Activity and Metabolism; American Heart Association Council on High Blood Pressure Research; American Heart Association Council on Cardiovascular Nursing; American Heart Association Council on the Kidney in Heart Disease; Interdisciplinary Working Group on Quality of Care and Outcomes Research the Councils on Cardiovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: endorsed by the American Academy of Pediatrics
-
Kavey RE, Allada V, Daniels SR, Hayman LL, McCrindle BW, Newburger JW, Parekh RS, Steinberger J; American Heart Association Expert Panel on Population and Prevention Science; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Nutrition, Physical Activity and Metabolism; American Heart Association Council on High Blood Pressure Research; American Heart Association Council on Cardiovascular Nursing; American Heart Association Council on the Kidney in Heart Disease; Interdisciplinary Working Group on Quality of Care and Outcomes Research 2006 Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American Heart Association Expert Panel on Population and Prevention Science; the Councils on Cardiovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: endorsed by the American Academy of Pediatrics. Circulation, 114: 2710-2738
-
(2006)
Circulation
, vol.114
, pp. 2710-2738
-
-
Kavey, R.E.1
Allada, V.2
Daniels, S.R.3
Hayman, L.L.4
McCrindle, B.W.5
Newburger, J.W.6
Parekh, R.S.7
Steinberger, J.8
-
6
-
-
0036913945
-
Atherosclerosis: Cell biology and lipoproteins: Cholesterol absorption inhibitors: Gateway therapy for hypercholesterolemia
-
Brown AJ 2002 Atherosclerosis: cell biology and lipoproteins: cholesterol absorption inhibitors: gateway therapy for hypercholesterolemia. Curr Opin Lipidol 13:701-703
-
(2002)
Curr Opin Lipidol
, vol.13
, pp. 701-703
-
-
Brown, A.J.1
-
7
-
-
0025156823
-
Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population
-
Miettinen TA, Tilvis RS, Kesäniemi YA 1990 Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am J Epidemiol 131:20-31
-
(1990)
Am J Epidemiol
, vol.131
, pp. 20-31
-
-
Miettinen, T.A.1
Tilvis, R.S.2
Kesäniemi, Y.A.3
-
8
-
-
32444441330
-
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
-
Cohen JC, Pertsemlidis A, Fahmi S, Esmail S, Vega GL, Grundy SM, Hobbs HH 2006 Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 103:1810-1815
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 1810-1815
-
-
Cohen, J.C.1
Pertsemlidis, A.2
Fahmi, S.3
Esmail, S.4
Vega, G.L.5
Grundy, S.M.6
Hobbs, H.H.7
-
9
-
-
38049156050
-
Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: Results of a family and DNA-based screening
-
Campagna F, Martino F, Bifolco M, Montali A, Martino E, Morrone F, Antonini R, Cantafora A, Verna R, Arca M 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. Atherosclerosis 196:356-364
-
(2008)
Atherosclerosis
, vol.196
, pp. 356-364
-
-
Campagna, F.1
Martino, F.2
Bifolco, M.3
Montali, A.4
Martino, E.5
Morrone, F.6
Antonini, R.7
Cantafora, A.8
Verna, R.9
Arca, M.10
-
10
-
-
54349112435
-
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting
-
Civeira F, Jarauta E, Cenarro A, García-Otín AL, Tejedor D, Zambón D, Mallen M, Ros E, Pocoví M 2008 Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol 52:1546-1553
-
(2008)
J Am Coll Cardiol
, vol.52
, pp. 1546-1553
-
-
Civeira, F.1
Jarauta, E.2
Cenarro, A.3
García-Otín, A.L.4
Tejedor, D.5
Zambón, D.6
Mallen, M.7
Ros, E.8
Pocoví, M.9
-
11
-
-
33748151339
-
Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography-mass spectrometry (GC-MS) with selective ion monitoring (SIM)
-
Ahmida HS, Bertucci P, Franzò L, Massoud R, Cortese C, Lala A, Federici G 2006 Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography-mass spectrometry (GC-MS) with selective ion monitoring (SIM). J Chromatogr B Analyt Technol Biomed Life Sci 842:43-47
-
(2006)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.842
, pp. 43-47
-
-
Ahmida, H.S.1
Bertucci, P.2
Franzò, L.3
Massoud, R.4
Cortese, C.5
Lala, A.6
Federici, G.7
-
12
-
-
0034268668
-
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
-
Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S 2000 Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Arterioscler Thromb Vasc Biol 20:E41-E52
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
-
-
Bertolini, S.1
Cantafora, A.2
Averna, M.3
Cortese, C.4
Motti, C.5
Martini, S.6
Pes, G.7
Postiglione, A.8
Stefanutti, C.9
Blotta, I.10
Pisciotta, L.11
Rolleri, M.12
Langheim, S.13
Ghisellini, M.14
Rabbone, I.15
Calandra, S.16
-
13
-
-
34247129908
-
Drug therapy of high-risk lipid abnormalities in children and adolescents: A scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young, with the Council on Cardiovascular Nursing
-
American Heart Association Atherosclerosis Hypertension and Obesity in Youth Committee; American Heart Association Council of Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular Nursing
-
McCrindle BW, Urbina EM, Dennison BA, Jacobson MS, Steinberger J, Rocchini AP, Hayman LL, Daniels SR; American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee; American Heart Association Council of Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular Nursing 2007 Drug therapy of high-risk lipid abnormalities in children and adolescents: a scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young, with the Council on Cardiovascular Nursing. Circulation 115:1948-1967
-
(2007)
Circulation
, vol.115
, pp. 1948-1967
-
-
McCrindle, B.W.1
Urbina, E.M.2
Dennison, B.A.3
Jacobson, M.S.4
Steinberger, J.5
Rocchini, A.P.6
Hayman, L.L.7
Daniels, S.R.8
-
14
-
-
44949145140
-
Development of sensitive and specific age-and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolemia in cascade testing
-
Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, Neil HA, Humphries SE 2008 Development of sensitive and specific age-and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolemia in cascade testing. Clin Chem Lab Med 46:791-803
-
(2008)
Clin Chem Lab Med
, vol.46
, pp. 791-803
-
-
Starr, B.1
Hadfield, S.G.2
Hutten, B.A.3
Lansberg, P.J.4
Leren, T.P.5
Damgaard, D.6
Neil, H.A.7
Humphries, S.E.8
-
15
-
-
33947651099
-
Diagnosis of families with familial hypercholesterolemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
-
Widhalm K, Dirisamer A, Lindemayr A, Kostner G 2007 Diagnosis of families with familial hypercholesterolemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. J Inherit Metab Dis 30:239-247
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 239-247
-
-
Widhalm, K.1
Dirisamer, A.2
Lindemayr, A.3
Kostner, G.4
-
16
-
-
0035915685
-
Review of first 5 years of screening for familial hypercholesterolemia in the Netherlands
-
Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ 2001 Review of first 5 years of screening for familial hypercholesterolemia in the Netherlands. Lancet 357:165-168
-
(2001)
Lancet
, vol.357
, pp. 165-168
-
-
Umans-Eckenhausen, M.A.1
Defesche, J.C.2
Sijbrands, E.J.3
Scheerder, R.L.4
Kastelein, J.J.5
-
17
-
-
33344456788
-
Serum noncholesterol sterols in children with heterozygous familial hypercholesterolemia undergoing pravastatin therapy
-
Hedman M, Miettinen TA, Gylling H, Ketomäki A, Antikainen M 2006 Serum noncholesterol sterols in children with heterozygous familial hypercholesterolemia undergoing pravastatin therapy. J Pediatr 148:241-246
-
(2006)
J Pediatr
, vol.148
, pp. 241-246
-
-
Hedman, M.1
Miettinen, T.A.2
Gylling, H.3
Ketomäki, A.4
Antikainen, M.5
-
18
-
-
0037044454
-
Inhibition of intestinal cholesterol absorption by ezetimibe in humans
-
Sudhop T, Lütjohann D, Kodal A, Igel M, Tribble DL, Shah S, Perevozskaya I, von Bergmann K 2002 Inhibition of intestinal cholesterol absorption by ezetimibe in humans. Circulation 106:1943-1948
-
(2002)
Circulation
, vol.106
, pp. 1943-1948
-
-
Sudhop, T.1
Lütjohann, D.2
Kodal, A.3
Igel, M.4
Tribble, D.L.5
Shah, S.6
Perevozskaya, I.7
Von Bergmann, K.8
-
19
-
-
0037383884
-
Squalene and noncholesterol sterols in serum and lipoproteins of children with and without familial hypercholesterolemia
-
Ketomäki A, Gylling H, Siimes MA, Vuorio A, Miettinen TA 2003 Squalene and noncholesterol sterols in serum and lipoproteins of children with and without familial hypercholesterolemia. Pediatr Res 53:648-653
-
(2003)
Pediatr Res
, vol.53
, pp. 648-653
-
-
Ketomäki, A.1
Gylling, H.2
Siimes, M.A.3
Vuorio, A.4
Miettinen, T.A.5
-
20
-
-
1942504337
-
Effects of plant stanol and sterol esters on serum phytosterols in a family with familial hypercholesterolemia including a homozygous subject
-
Ketomaki A, Gylling H, Miettinen TA 2004 Effects of plant stanol and sterol esters on serum phytosterols in a family with familial hypercholesterolemia including a homozygous subject. J Lab Clin Med 143:255-262
-
(2004)
J Lab Clin Med
, vol.143
, pp. 255-262
-
-
Ketomaki, A.1
Gylling, H.2
Miettinen, T.A.3
-
21
-
-
57149129560
-
Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men
-
Zhao HL, Houweling AH, Vanstone CA, Jew S, Trautwein EA, Duchateau GS, Jones PJ 2008 Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men. Lipids 43:1155-1164
-
(2008)
Lipids
, vol.43
, pp. 1155-1164
-
-
Zhao, H.L.1
Houweling, A.H.2
Vanstone, C.A.3
Jew, S.4
Trautwein, E.A.5
Duchateau, G.S.6
Jones, P.J.7
-
22
-
-
34548767271
-
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes
-
García-Otín AL, Cofán M, Junyent M, Recalde D, Cenarro A, Pocoví M, Ros E, Civeira F 2007 Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. J Clin Endocrinol Metab 92:3667-3673
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3667-3673
-
-
García-Otín, A.L.1
Cofán, M.2
Junyent, M.3
Recalde, D.4
Cenarro, A.5
Pocoví, M.6
Ros, E.7
Civeira, F.8
-
23
-
-
0036180146
-
Recognition of familial dyslipidemias in 5-year-old children using the lipid pheno-types of parents. the STRIP project
-
Lapinleimu J, Nuotio IO, Lapinleimu H, Simell OG, Rask-Nissila L, Viikari JS 2002 Recognition of familial dyslipidemias in 5-year-old children using the lipid pheno-types of parents. The STRIP project. Atherosclerosis 160:417-423
-
(2002)
Atherosclerosis
, vol.160
, pp. 417-423
-
-
Lapinleimu, J.1
Nuotio, I.O.2
Lapinleimu, H.3
Simell, O.G.4
Rask-Nissila, L.5
Viikari, J.S.6
-
24
-
-
0025374073
-
Prevalence and expression of familial combined hyperlipidemia in childhood
-
Cortner JA, Coates PM, Gallagher PR 1990 Prevalence and expression of familial combined hyperlipidemia in childhood. J Pediatr 116:514-519
-
(1990)
J Pediatr
, vol.116
, pp. 514-519
-
-
Cortner, J.A.1
Coates, P.M.2
Gallagher, P.R.3
|