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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 (...





Evaluation of clinical and laboratory parameters used in the identification of ...

Silva, Pamela R. S.; Jannes, Cinthia E.; Oliveira, Theo G. M.; Miname, Marcio H.; Rocha, Viviane Z.; Chacra, Ana Paula; Gurgel, Maria Helane C.

Background and aims: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil. Methods: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Inclusion criteria ...

Date: 2017   |   Origin: Oasisbr





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