-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver C.R., Beaudet A.L., Sly W.S., Valle D., eds., 8th edn. New York, NY: McGraw-Hill,: pp.
-
Goldstein JL, Hobbs HH, Brown MS, Goldstein JL, Hobbs HH, Brown MS,. Familial hypercholesterolemia. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York, NY: McGraw-Hill, 2001: pp. 2863-2913.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
Goldstein, J.L.4
Hobbs, H.H.5
Brown, M.S.6
-
2
-
-
33845875445
-
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
-
Kavey RE, Allada V, Daniels SR, et al. 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 2006: 114: 2710-2738.
-
(2006)
Circulation
, vol.114
, pp. 2710-2738
-
-
Kavey, R.E.1
Allada, V.2
Daniels, S.R.3
-
3
-
-
0041743167
-
Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
-
DOI 10.1172/JCI200318925
-
Rader DJ, Cohen J, Hobbs HH,. Monogenic hypercholesterolemia: New insights in pathogenesis and treatment. J Clin Invest 2003: 111: 1795-1803. (Pubitemid 38057721)
-
(2003)
Journal of Clinical Investigation
, vol.111
, Issue.12
, pp. 1795-1803
-
-
Rader, D.J.1
Cohen, J.2
Hobbs, H.H.3
-
4
-
-
0033104779
-
Family history of early cardiovascular disease in children with moderate to severe hypercholesterolemia: Relationship to lipoprotein (a) and low-density lipoprotein cholesterol levels
-
DOI 10.1016/S0022-2143(99)90079-3
-
Barth JA, Deckelbaum RJ, Starc TJ, Shea S, Mosca L, Berglund L,. Family history of early cardiovascular disease in children with moderate to severe hypercholesterolemia: Relationship to lipoprotein (a) and low-density lipoprotein cholesterol levels. J Lab Clin Med 1999: 133: 237-244. (Pubitemid 29112085)
-
(1999)
Journal of Laboratory and Clinical Medicine
, vol.133
, Issue.3
, pp. 237-244
-
-
Barth, J.A.1
Deckelbaum, R.J.2
Starc, T.J.3
Shea, S.4
Mosca, L.5
Berglund, L.6
-
5
-
-
0028137601
-
Familial hypercholesterolemia: What the zebra can teach us about the horse
-
DOI 10.1001/jama.271.7.543
-
Hoeg JM,. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA 1994: 271: 543-546. (Pubitemid 24050320)
-
(1994)
Journal of the American Medical Association
, vol.271
, Issue.7
, pp. 543-546
-
-
Hoeg, J.M.1
-
6
-
-
0037371166
-
LDL apheresis
-
DOI 10.1016/S0021-9150(02)00251-4, PII S0021915002002514
-
Thompson GR,. LDL apheresis. Atherosclerosis 2003: 167: 1-13. (Pubitemid 36258395)
-
(2003)
Atherosclerosis
, vol.167
, Issue.1
, pp. 1-13
-
-
Thompson, G.R.1
-
7
-
-
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 Apher 2005: 20: 252-255.
-
(2005)
J Clin Apher
, vol.20
, pp. 252-255
-
-
Sachais, B.S.1
Katz, J.2
Ross, J.3
Rader, D.J.4
-
8
-
-
4043093508
-
Current management of severe homozygous hypercholesterolaemias
-
DOI 10.1097/01.mol.0000137222.23784.2a
-
Naoumova RP, Thompson GR, Soutar AK,. Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 2004: 15: 413-422. (Pubitemid 39061621)
-
(2004)
Current Opinion in Lipidology
, vol.15
, Issue.4
, pp. 413-422
-
-
Naoumova, R.P.1
Thompson, G.R.2
Soutar, A.K.3
-
9
-
-
42249103629
-
Vascular calcifications in homozygote familial hypercholesterolemia
-
DOI 10.1161/ATVBAHA.107.160408
-
Awan Z, Alrasadi K, Francis GA, et al. Vascular calcifications in homozygote familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2008: 28: 777-785. (Pubitemid 351651345)
-
(2008)
Arteriosclerosis, Thrombosis, and Vascular Biology
, vol.28
, Issue.4
, pp. 777-785
-
-
Awan, Z.1
Alrasadi, K.2
Francis, G.A.3
Hegele, R.A.4
McPherson, R.5
Frohlich, J.6
Valenti, D.7
De Varennes, B.8
Marcil, M.9
Gagne, C.10
Genest, J.11
Couture, P.12
-
10
-
-
70249103543
-
Liver transplantation for homozygous familial hypercholesterolemia: Two case reports
-
Kakaei F, Nikeghbalian S, Kazemi K, et al. Liver transplantation for homozygous familial hypercholesterolemia: Two case reports. Transplant Proc 2009: 41: 2939-2941.
-
(2009)
Transplant Proc
, vol.41
, pp. 2939-2941
-
-
Kakaei, F.1
Nikeghbalian, S.2
Kazemi, K.3
-
11
-
-
41049095628
-
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation
-
DOI 10.1111/j.1399-0012.2007.00764.x
-
Schmidt HH, Tietge UJ, Buettner J, et al. Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation. Clin Transplant 2008: 22: 180-184. (Pubitemid 351420011)
-
(2008)
Clinical Transplantation
, vol.22
, Issue.2
, pp. 180-184
-
-
Schmidt, H.H.-J.1
Tietge, U.J.F.2
Buettner, J.3
Barg-Hock, H.4
Offner, G.5
Schweitzer, S.6
Dedoussis, G.V.7
Rodeck, B.8
Kallfelz, H.C.9
Schlitt, H.-J.10
Oldhafer, K.11
Klempnauer, J.12
-
12
-
-
29244464311
-
Surgery for calcific aortic root stenosis in homozygous familial hypercholesterolemia
-
DOI 10.1016/j.ejcts.2005.11.001, PII S1010794005008420
-
Saito S, Usui A, Akita T, Ueda Y,. Surgery for calcific aortic root stenosis in homozygous familial hypercholesterolemia. Eur J Cardiothorac Surg 2006: 29: 114-116. (Pubitemid 41831363)
-
(2006)
European Journal of Cardio-thoracic Surgery
, vol.29
, Issue.1
, pp. 114-116
-
-
Saito, S.1
Usui, A.2
Akita, T.3
Ueda, Y.4
-
13
-
-
77950993464
-
Liver transplantation in children: Update 2010
-
Kamath BM, Olthoff KM,. Liver transplantation in children: Update 2010. Pediatr Clin North Am 2010: 57: 401-414.
-
(2010)
Pediatr Clin North Am
, vol.57
, pp. 401-414
-
-
Kamath, B.M.1
Olthoff, K.M.2
-
14
-
-
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, et al. 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 2000: 20: E41-E52.
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
-
-
Bertolini, S.1
Cantafora, A.2
Averna, M.3
-
15
-
-
77949488667
-
Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, placebo-controlled trial
-
Raal FJ, Santos RD, Blom DJ, et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, placebo-controlled trial. Lancet 2010: 20: 375.
-
(2010)
Lancet
, vol.20
, pp. 375
-
-
Raal, F.J.1
Santos, R.D.2
Blom, D.J.3
-
16
-
-
33846151732
-
Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia
-
DOI 10.1056/NEJMoa061189
-
Cuchel M, Bloedon LT, Szapary PO, et al. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med 2007: 356: 148-156. (Pubitemid 46089675)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.2
, pp. 148-156
-
-
Cuchel, M.1
Bloedon, L.T.2
Szapary, P.O.3
Kolansky, D.M.4
Wolfe, M.L.5
Sarkis, A.6
Millar, J.S.7
Ikewaki, K.8
Siegelman, E.S.9
Gregg, R.E.10
Rader, D.J.11
-
17
-
-
0021262841
-
Heart-liver transplantation in a patient with familial hypercholesterolaemia
-
Starzl TE, Bilheimer DW, Bahnson HT, et al. Heart-liver transplantation in a patient with familial hypercholesterolaemia. Lancet 1984: 1: 1382-1383. (Pubitemid 14122021)
-
(1984)
Lancet
, vol.1
, Issue.8391
, pp. 1382-1383
-
-
Starzl, T.E.1
Bahnson, H.T.2
Bilheimer, D.W.3
-
18
-
-
77953282998
-
Liver transplantation for inherited metabolic disorders of the liver
-
Moini M, Mistry P, Schilsky ML,. Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Transplant 2010: 15: 269-276.
-
(2010)
Curr Opin Organ Transplant
, vol.15
, pp. 269-276
-
-
Moini, M.1
Mistry, P.2
Schilsky, M.L.3
-
19
-
-
34250619179
-
Long-term outcome after living donor liver transplantation for two cases of homozygous familial hypercholesterolemia from heterozygous donor
-
Kawagishi N, Satoh K, Akamatsu Y, et al. Long-term outcome after living donor liver transplantation for two cases of homozygous familial hypercholesterolemia from heterozygous donor. J Atheroscler Thromb 2007: 14: 94-98.
-
(2007)
J Atheroscler Thromb
, vol.14
, pp. 94-98
-
-
Kawagishi, N.1
Satoh, K.2
Akamatsu, Y.3
-
20
-
-
0037641223
-
Living-donor liver transplantation for homozygous familial hypercholesterolemia from a donor with heterozygous hypercholesterolemia
-
DOI 10.1111/j.1432-2277.2003.tb00299.x
-
Shirahata Y, Ohkohchi N, Kawagishi N, et al. Living-donor liver transplantation for homozygous familial hypercholesterolemia from a donor with heterozygous hypercholesterolemia. Transpl Int 2003: 16: 276-279. (Pubitemid 36682186)
-
(2003)
Transplant International
, vol.16
, Issue.4
, pp. 276-279
-
-
Shirahata, Y.1
Ohkohchi, N.2
Kawagishi, N.3
Syouji, M.4
Tsukamoto, S.5
Sekiguchi, S.6
Koyamada, N.7
Oikawa, S.8
Satomi, S.9
-
21
-
-
17644364765
-
Successful living-related liver transplantation for familial hypercholesterolemia in the Middle East
-
DOI 10.1007/s00147-004-0791-7
-
Khalifeh M, Faraj W, Heaton N, Rela M, Sharara AI,. Successful living-related liver transplantation for familial hypercholesterolemia in the Middle East. Transpl Int 2005: 17: 735-739. (Pubitemid 40558234)
-
(2005)
Transplant International
, vol.17
, Issue.11
, pp. 735-739
-
-
Khalifeh, M.1
Faraj, W.2
Heaton, N.3
Rela, M.4
Sharara, A.I.5
-
22
-
-
0034279879
-
Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia
-
Castilla Cabezas JA, López-Cillero P, Jiménez J, et al. Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia. Rev Esp Enferm Dig 2000: 92: 601-608.
-
(2000)
Rev Esp Enferm Dig
, vol.92
, pp. 601-608
-
-
Castilla Cabezas, J.A.1
López-Cillero, P.2
Jiménez, J.3
-
23
-
-
8444234306
-
Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: Response to liver transplantation
-
DOI 10.1111/j.1440-0960.2004.00103.x
-
Moyle M, Tate B,. Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: Response to liver transplantation. Australas J Dermatol 2004: 45: 226-228. (Pubitemid 39487040)
-
(2004)
Australasian Journal of Dermatology
, vol.45
, Issue.4
, pp. 226-228
-
-
Moyle, M.1
Tate, B.2
-
24
-
-
74749107585
-
Efficacy criteria and cholesterol targets for LDL apheresis
-
Thompson GR, Barbir M, Davies D, et al. Efficacy criteria and cholesterol targets for LDL apheresis. Atherosclerosis 2010: 208: 317-321.
-
(2010)
Atherosclerosis
, vol.208
, pp. 317-321
-
-
Thompson, G.R.1
Barbir, M.2
Davies, D.3
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