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

Ana Catarina Alves, Rodrigo Alonso, José Luis Díaz-Díaz, Ana Margarida Medeiros, Cinthia E. Jannes, Alonso Merchán, Norma Alexandra Vasques-Cardenas, Ada Cuevas, Ana Paula Marte Chacra, José Eduardo Krieger, Raquel Arroyo, Francisco Arrieta, Laura Schreier, Pablo Corral, Virginia Bañares, Maria Lúcia Góes Araujo, Paula Bustos, Sylvia Asenjo, Mario Stoll, Nicolás Dell’Oca, María Jesús Salado Reyes, A. Ressia, Rafael Campo, María Teresa Magaña‐Torres, Roopa Metha, Carlos A. Aguilar‐Salinas, José Juan Ceballos-Macías, Álvaro J. Ruiz Morales, Pedro Mata, Mafalda Bourbon, Raúl D. Santos

2020PubMed35 citationsDOIOpen Access PDF

Abstract

OBJECTIVE: =0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.

Topics & Concepts

Familial hypercholesterolemiaCompound heterozygosityMedicineLDL receptorInternal medicineHeterozygote advantageCholesterolPediatricsGastroenterologyLipoproteinPhenotypeGeneticsAlleleBiologyGeneLipoproteins and Cardiovascular HealthCancer, Lipids, and Metabolism
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica. | Litcius