Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Monica Penon-PortmannStephanie Lotz-EsquivelAlejandra Chavez CarreraMildred Jiménez-HernándezDanny Alvarado-RomeroSharon Segura-CorderoFiorella Rimolo-DonadioFrancisco Hevia-UrrutiaAlfredo Mora-GuevaraManuel Saborío-RocafortGabriela Jiménez-ArguedasRamsés Badilla-Porras

Published in: JIMD reports (2020)

Molecular testing has facilitated the detection of presymptomatic patients with WD in Costa Rica. We hope that ongoing efforts in the delivery of clinical services lead to optimized molecular screening for WD and other genetic conditions in Costa Rica.

Keyphrases

healthcare
primary care
single molecule
mental health
genome wide
loop mediated isothermal amplification
quality improvement
dna methylation
gene expression
health insurance
quantum dots