Author:
Luirink Ilse K.,Hutten Barbara A.,Wiegman Albert
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Reference73 articles.
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2. Innerarity TL, Weisgraber KH, Arnold KAYS, Mahley RW, Kraussf RM, Vega GL, et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A. 1987;84:6919–23.
3. Abifadel M, Rabès J-P, Devillers M, Munnich A, Erlich D, Junien C, et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat. 2009;30:520–9.
4. 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 2013:1–14. An important paper on the current underdiagnosis and undertreatment of FH in the general population.
5. Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche J, Sijbrands EJG, Roeters van Lennep JE, Stalenhoef AFH, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJP, Hovingh GK. Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship and clinical outcome. Eur Heart J 2014. This study provides insight in the genotype–phenotype relationship of HoFH.
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