Frederick Raal to Mutation
This is a "connection" page, showing publications Frederick Raal has written about Mutation.
Connection Strength
1,512
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Evolocumab in patients with homozygous familial hypercholesterolemia in India. J Clin Lipidol. 2021 Nov-Dec; 15(6):814-821.
Score: 0,172
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Evinacumab for Homozygous Familial Hypercholesterolemia. N Engl J Med. 2020 08 20; 383(8):711-720.
Score: 0,159
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Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa. Clin Genet. 1998 Jul; 54(1):74-8.
Score: 0,137
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Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa. Curr Opin Lipidol. 2018 04; 29(2):72-79.
Score: 0,134
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Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. Arterioscler Thromb Vasc Biol. 2018 03; 38(3):592-598.
Score: 0,132
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Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. J Am Coll Cardiol. 2017 Aug 29; 70(9):1162-1170.
Score: 0,129
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CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. Clin Genet. 1997 Jun; 51(6):394-8.
Score: 0,127
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Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study. Atherosclerosis. 2016 May; 248:238-44.
Score: 0,117
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Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis. 2012 Aug; 223(2):262-8.
Score: 0,088
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Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria. Circ Genom Precis Med. 2022 10; 15(5):e003324.
Score: 0,046
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Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis. 2000 Jun; 150(2):421-8.
Score: 0,039
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Efficacy of vitamin E compared with either simvastatin or atorvastatin in preventing the progression of atherosclerosis in homozygous familial hypercholesterolemia. Am J Cardiol. 1999 Dec 01; 84(11):1344-6, A7.
Score: 0,038
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Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa. Cardiovasc J Afr. 2019 Sep/Oct; 30(5):297-304.
Score: 0,037
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Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report. Arterioscler Thromb Vasc Biol. 2016 08; 36(8):1647-50.
Score: 0,029
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Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov; 243(1):257-9.
Score: 0,028
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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 Aug 21; 35(32):2146-57.
Score: 0,026
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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 Dec; 34(45):3478-90a.
Score: 0,024
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Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype. Clin Chim Acta. 2007 Mar; 378(1-2):33-7.
Score: 0,015
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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001 Aug; 28(4):365-70.
Score: 0,011
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Lipoprotein(a) in homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2000 Feb; 20(2):522-8.
Score: 0,010
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Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. Hum Mutat. 1998; Suppl 1:S232-3.
Score: 0,008
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Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. Arterioscler Thromb. 1993 Jul; 13(7):1076-81.
Score: 0,006