2 documents found, page 1 of 1
Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype ...
Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria BeatrizBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inapp...
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homoz...
Alves, Ana Catarina; Alonso, Rodrigo; Diaz-Diaz, José Luís; Medeiros, Ana Margarida; Jannes, Cinthia E.; Merchan, Alonso; Vasques-Cardenas, Norma A.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 (...