Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

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 detection d...

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Udgivet i:JIMD Rep
Main Authors: Penon‐Portmann, Monica, Lotz‐Esquivel, Stephanie, Chavez Carrera, Alejandra, Jiménez‐Hernández, Mildred, Alvarado‐Romero, Danny, Segura‐Cordero, Sharon, Rimolo‐Donadio, Fiorella, Hevia‐Urrutia, Francisco, Mora‐Guevara, Alfredo, Saborío‐Rocafort, Manuel, Jiménez‐Arguedas, Gabriela, Badilla‐Porras, Ramsés
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
Fag:
Research Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052697/
https://ncbi.nlm.nih.gov/pubmed/32154060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12098
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