Ontology highlight
ABSTRACT:
SUBMITTER: Penon-Portmann M
PROVIDER: S-EPMC7052697 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Penon-Portmann Monica M Lotz-Esquivel Stephanie S Chavez Carrera Alejandra A Jiménez-Hernández Mildred M Alvarado-Romero Danny D Segura-Cordero Sharon S Rimolo-Donadio Fiorella F Hevia-Urrutia Francisco F Mora-Guevara Alfredo A Saborío-Rocafort Manuel M Jiménez-Arguedas Gabriela G Badilla-Porras Ramsés R
JIMD reports 20200206 1
<h4>Introduction</h4>The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100 000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing for WD began in 2010 as a strategy for earlier detection due to the country's high prevalence. Here we describe what we have learned about the genotype and phenotype of the Costa Rican pediatric population with WD.<h4>Methods</h4>We completed a retros ...[more]