Associated Papers
Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Kim KA et al.
Diagnostics (basel, Switzerland), 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M et al.
Journal of the American Heart Association, 2023
[Lipoprotein apheresis : State of the art and case report of the longest HELP treatment worldwide].
Tünnemann-Tarr A et al.
Herz, 2022
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.
Zhao PJ et al.
Cjc Open, 2019
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.
Sanna C et al.
Atherosclerosis, 2016
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Salazar LA et al.
Human Mutation, 2002
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Bochmann H et al.
Human Mutation, 2001
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
Weiss N et al.
Journal of Inherited Metabolic Disease, 2000
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG et al.
Journal of Clinical Lipidology, 0
Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle.
Martin AC et al.
Journal of Clinical Lipidology, 0