Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.

doi:10.1161/ATVBAHA.120.313722

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.

Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 2020

Alves Ana Catarina, Alonso Rodrigo, Diaz-Diaz José Luís, Medeiros Ana Margarida, Jannes Cinthia E, Merchan Alonso, Vasques-Cardenas Norma A, Cuevas Ada, Chacra Ana Paula, Krieger Jose E, Arroyo Raquel, Arrieta Francisco, Schreier Laura, Corral Pablo, Bañares Virginia G, Araujo Maria B, Bustos Paula, Asenjo Sylvia, Stoll Mario, Dell'Oca Nicolás, Reyes Maria, Ressia Andrés, Campo Rafael, Magaña-Torres Maria T, Metha Roopa, Aguilar-Salinas Carlos A, Ceballos-Macias José J, Morales Álvaro J Ruiz, Mata Pedro, Bourbon Mafalda, Santos Raul D

Abstract excerpt

OBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apolipoprotein B-100

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiovascular Diseases

Share to Cholesterol, LDL

Share to Hyperlipoproteinemia Type II

Share to Mexico

Share to Proprotein Convertase 9

Share to Receptors, LDL

Share to South America

Source

Open in PubMed

Identifiers

PMID: 32757650
DOI: 10.1161/ATVBAHA.120.313722

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.PMID 32757650Read ↗

Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents.Semantic proximity Read ↗

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.Semantic proximity Read ↗

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.Semantic proximity Read ↗

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case SeriesSemantic proximity Read ↗

Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.Semantic proximity Read ↗

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.Semantic proximity Read ↗

[Familial hypercholesterolemia - do we think enough about this severe disease?].Semantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular-genetic aspects of familial hypercholesterolemia.Semantic proximity Read ↗

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.Semantic proximity Read ↗

Autosomal recessive hypercholesterolemia in Spain.Semantic proximity Read ↗

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.