Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

2021/01/13 by Marta Futema, Uma Ramaswami, Lukas Tichy +25 · 12 citations
Medicine · #Lipoproteins and Cardiovascular Health #Diabetes, Cardiovascular Risks, and Lipoproteins #Cholesterol and Lipid Metabolism

paper · doi:10.1016/j.atherosclerosis.2021.01.008

Citations

• Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

Cited by

• Genetic Determinants of the Familial Hypercholesterolaemia Phenotype
• Editorial: Genetics of Familial Hypercholesterolemia: New Insight. [europepmc]
• Genetic testing for familial hypercholesterolemia-past, present, and future. [europepmc]
• A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia. [europepmc]
• The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group. [europepmc]
• Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot. [europepmc]
• Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis. [europepmc]
• Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database. [europepmc]
• Overcoming the real and imagined barriers to cholesterol screening in pediatrics. [europepmc]
• Genetic Determinants of the Familial Hypercholesterolaemia Phenotype. [europepmc]
• Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults. [europepmc]
• Building CRISPR-Based Gene-Editing Platforms for Personalized Medicine: The Next Step in Interventional Genetics [europepmc]