Associated Papers
A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Lin CF et al.
Journal of Clinical Lipidology, 2026
Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Kim KA et al.
Diagnostics (basel, Switzerland), 2025
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.
Kolovou G et al.
Orphanet Journal of Rare Diseases, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.
Zhou Y et al.
Clinical Genetics, 2024
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.
Wang M et al.
Molecular Biology Reports, 2024
Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.
Hu YN et al.
Plos One, 2024
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
Zhang Q et al.
Bmc Pediatrics, 2023
Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.
Bruckert E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.
Bélanger AM et al.
European Heart Journal, 2022
Exome sequencing identifies rare mutations of LDLR and QTRT1 conferring risk for early-onset coronary artery disease in Chinese.
Yao K et al.
National Science Review, 2022
Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization: A case report.
Yang L et al.
World Journal of Clinical Cases, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
A Case Series Assessing the Effects of Lomitapide on Carotid Intima-Media Thickness in Adult Patients with Homozygous Familial Hypercholesterolaemia in a Real-World Setting.
Blom DJ et al.
Advances in Therapy, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Integrated analysis of microRNA and mRNA expression profiles in homozygous familial hypercholesterolemia patients and validation of atherosclerosis associated critical regulatory network.
Wu Y et al.
Genomics, 2021
Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.
Kalra S et al.
Journal of Atherosclerosis and Thrombosis, 2021
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H et al.
Journal of Atherosclerosis and Thrombosis, 2020
Hsa-miRNA-23a-3p promotes atherogenesis in a novel mouse model of atherosclerosis.
Guo J et al.
Journal of Lipid Research, 2020
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases.
Cheng S et al.
Genetic Testing and Molecular Biomarkers, 2019
Current status of familial hypercholesterolemia in Chinese populations.
Tomlinson B et al.
Current Opinion in Lipidology, 2019
Familial hypercholesterolemia in China half a century: A review of published literature.
Peng J et al.
Atherosclerosis. Supplements, 2019
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Chen P et al.
Frontiers in Physiology, 2019
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Cao YX et al.
Journal of Translational Medicine, 2018
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.
Sun D et al.
Lipids in Health and Disease, 2018
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang X et al.
Journal of Geriatric Cardiology : Jgc, 2018
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R et al.
Atherosclerosis, 2017
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.
Kolovou GD et al.
Journal of Atherosclerosis and Thrombosis, 2016
Long-term atorvastatin-ezetimibe-probucol triple therapy for homozygous familial hypercholesterolaemia from early childhood.
Lin M et al.
Cardiology in the Young, 2016
Mutation detection in Chinese patients with familial hypercholesterolemia.
Du R et al.
Springerplus, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.
Kong MX et al.
Clinical and Experimental Dermatology, 2015
[A genetic and clinical study in a family with familial hypercholesterolemia].
Lai H et al.
Zhonghua Nei Ke Za Zhi, 2011
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
Dai YF et al.
Yi Chuan = Hereditas, 2011
Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.
Cheng X et al.
Molecular Biology Reports, 2009
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
Guardamagna O et al.
The Journal of Pediatrics, 2009