Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

Abstract Introduction 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 det...

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Bibliographic Details
Main Authors: Monica Penon‐Portmann, Stephanie Lotz‐Esquivel, Alejandra Chavez Carrera, Mildred Jiménez‐Hernández, Danny Alvarado‐Romero, Sharon Segura‐Cordero, Fiorella Rimolo‐Donadio, Francisco Hevia‐Urrutia, Alfredo Mora‐Guevara, Manuel Saborío‐Rocafort, Gabriela Jiménez‐Arguedas, Ramsés Badilla‐Porras
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:JIMD Reports
Subjects:
acute liver failure
ATP7B
genotype and phenotype
pediatric
Wilson disease
Online Access:https://doi.org/10.1002/jmd2.12098

Internet

https://doi.org/10.1002/jmd2.12098

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